Variant report

Variant	nsv983941
Chromosome Location	chr14:105485574-105534240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3044)
CpG islands
(count:2751)
Chromatin interactive
region (count:160)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3044 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:105505984-105506220	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:105512086-105512391	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:105487292-105487482	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:105512055-105512331	K562	blood:	n/a	n/a
5	ATF1	chr14:105531689-105532059	K562	blood:	n/a	n/a
6	ATF2	chr14:105492370-105492862	GM12878	blood:	n/a	n/a
7	ATF2	chr14:105512072-105512529	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr14:105492122-105492885	GM12878	blood:	n/a	n/a
9	ATF2	chr14:105532672-105533249	GM12878	blood:	n/a	n/a
10	ATF2	chr14:105527777-105528339	GM12878	blood:	n/a	n/a
11	ATF2	chr14:105529889-105530248	GM12878	blood:	n/a	n/a
12	ATF2	chr14:105533584-105533931	GM12878	blood:	n/a	n/a
13	ATF2	chr14:105512062-105512430	GM12878	blood:	n/a	n/a
14	ATF2	chr14:105512023-105512788	GM12878	blood:	n/a	n/a
15	ATF2	chr14:105527799-105528595	GM12878	blood:	n/a	n/a
16	ATF2	chr14:105514092-105514416	GM12878	blood:	n/a	n/a
17	ATF2	chr14:105491032-105491505	GM12878	blood:	n/a	n/a
18	ATF2	chr14:105487644-105488036	GM12878	blood:	n/a	n/a
19	ATF2	chr14:105512921-105514807	GM12878	blood:	n/a	n/a
20	ATF2	chr14:105532781-105533205	GM12878	blood:	n/a	n/a
21	ATF2	chr14:105531529-105532220	GM12878	blood:	n/a	n/a
22	ATF2	chr14:105531494-105532230	GM12878	blood:	n/a	n/a
23	ATF2	chr14:105533544-105534046	GM12878	blood:	n/a	n/a
24	ATF2	chr14:105531034-105531469	GM12878	blood:	n/a	n/a
25	ATF3	chr14:105531135-105531272	K562	blood:	n/a	chr14:105531137-105531146 chr14:105531208-105531217
26	ATF3	chr14:105511986-105512491	A549	lung:	n/a	chr14:105512234-105512242
27	ATF3	chr14:105512057-105512333	HepG2	liver:	n/a	chr14:105512234-105512242
28	ATF3	chr14:105487624-105487885	H1-hESC	embryonic stem cell:	n/a	chr14:105487704-105487713 chr14:105487687-105487696
29	ATF3	chr14:105487655-105487875	H1-hESC	embryonic stem cell:	n/a	chr14:105487704-105487713 chr14:105487687-105487696
30	ATF3	chr14:105487634-105487983	HepG2	liver:	n/a	chr14:105487704-105487713 chr14:105487687-105487696
31	ATF3	chr14:105487600-105487891	K562	blood:	n/a	chr14:105487610-105487619 chr14:105487704-105487713 chr14:105487687-105487696
32	ATF3	chr14:105487578-105487932	HepG2	liver:	n/a	chr14:105487610-105487619 chr14:105487704-105487713 chr14:105487687-105487696
33	ATF3	chr14:105487653-105487840	GM12878	blood:	n/a	chr14:105487704-105487713 chr14:105487687-105487696
34	ATF3	chr14:105487590-105487993	GM12878	blood:	n/a	chr14:105487610-105487619 chr14:105487704-105487713 chr14:105487687-105487696
35	ATF3	chr14:105511938-105512481	A549	lung:	n/a	chr14:105512234-105512242
36	BACH1	chr14:105522282-105522707	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr14:105511954-105512390	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr14:105491273-105491386	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr14:105486695-105488358	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr14:105512083-105512370	K562	blood:	n/a	n/a
41	BATF	chr14:105531625-105532007	GM12878	blood:	n/a	n/a
42	BATF	chr14:105492361-105492708	GM12878	blood:	n/a	chr14:105492620-105492631 chr14:105492636-105492647
43	BATF	chr14:105491154-105491609	GM12878	blood:	n/a	chr14:105491387-105491398
44	BATF	chr14:105533597-105533966	GM12878	blood:	n/a	n/a
45	BATF	chr14:105533606-105533956	GM12878	blood:	n/a	n/a
46	BATF	chr14:105514029-105514517	GM12878	blood:	n/a	n/a
47	BATF	chr14:105492366-105492922	GM12878	blood:	n/a	chr14:105492620-105492631 chr14:105492636-105492647
48	BATF	chr14:105527999-105528412	GM12878	blood:	n/a	n/a
49	BATF	chr14:105491195-105491563	GM12878	blood:	n/a	chr14:105491387-105491398
50	BCL11A	chr14:105531576-105532060	GM12878	blood:	n/a	n/a

(count:2751 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105517573-105517623	HCPEpiC	choroid plexus:	n/a
2	chr14:105501086-105501136	PFSK-1	brain:	n/a
3	chr14:105512306-105512356	IMR90	lung:	fetal
4	chr14:105521961-105522011	AG04450	lung:	fetal
5	chr14:105486648-105486698	NH-A	brain:	n/a
6	chr14:105522348-105522398	NHDF-neo	bronchial:	n/a
7	chr14:105517573-105517623	HCPEpiC	choroid plexus:	n/a
8	chr14:105501086-105501136	PFSK-1	brain:	n/a
9	chr14:105512306-105512356	IMR90	lung:	fetal
10	chr14:105521961-105522011	AG04450	lung:	fetal
11	chr14:105486648-105486698	NH-A	brain:	n/a
12	chr14:105522348-105522398	NHDF-neo	bronchial:	n/a
13	chr14:105521894-105521944	HEEpiC	esophagus:	n/a
14	chr14:105503903-105503953	LNCaP	prostate:	n/a
15	chr14:105488115-105488165	NB4	blood:	n/a
16	chr14:105503903-105503953	AG04450	lung:	fetal
17	chr14:105503903-105503953	HCT-116	colon:	n/a
18	chr14:105517573-105517623	GM12891	blood:	n/a
19	chr14:105522348-105522398	U87	brain:	n/a
20	chr14:105500294-105500344	HCPEpiC	choroid plexus:	n/a
21	chr14:105487648-105487698	BE2_C	brain:	n/a
22	chr14:105491309-105491359	HL-60	blood:	n/a
23	chr14:105527251-105527301	GM12878	blood:	n/a
24	chr14:105513535-105513585	Hela-S3	cervix:	n/a
25	chr14:105509229-105509279	H1-hESC	embryonic stem cell:	embryo
26	chr14:105487248-105487298	PFSK-1	brain:	n/a
27	chr14:105487215-105487265	BE2_C	brain:	n/a
28	chr14:105517573-105517623	PFSK-1	brain:	n/a
29	chr14:105509376-105509426	HUVEC	blood vessel:	n/a
30	chr14:105532208-105532258	ECC-1	luminal epithelium:	n/a
31	chr14:105499706-105499756	HRE	kidney:	n/a
32	chr14:105531893-105531943	K562	blood:	n/a
33	chr14:105522902-105522952	H1-hESC	embryonic stem cell:	embryo
34	chr14:105517573-105517623	Hepatocyte	liver:	n/a
35	chr14:105522902-105522952	HMEC	breast:	n/a
36	chr14:105527251-105527301	PFSK-1	brain:	n/a
37	chr14:105499998-105500048	K562	blood:	n/a
38	chr14:105532012-105532062	Hela-S3	cervix:	n/a
39	chr14:105509229-105509279	GM12878	blood:	n/a
40	chr14:105532252-105532302	AG10803	skin:	n/a
41	chr14:105487248-105487298	K562	blood:	n/a
42	chr14:105509376-105509426	NB4	blood:	n/a
43	chr14:105499998-105500048	AG09309	skin:	n/a
44	chr14:105487914-105487964	HEEpiC	esophagus:	n/a
45	chr14:105487914-105487964	ProgFib	skin:	n/a
46	chr14:105487825-105487875	AG09309	skin:	n/a
47	chr14:105511982-105512032	HUVEC	blood vessel:	n/a
48	chr14:105495862-105495912	U87	brain:	n/a
49	chr14:105486781-105486831	HAEpiC	amniotic membrane:	n/a
50	chr14:105487215-105487265	ProgFib	skin:	n/a

(count:160 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr14:105488161..105488707-chr14:105511957..105512657,2	MCF-7	breast:
2	chr14:105458011..105458613-chr14:105511934..105512703,4	MCF-7	breast:
3	chr14:105499189..105502656-chr14:105506829..105510545,6	MCF-7	breast:
4	chr14:105359659..105361508-chr14:105484328..105487117,2	MCF-7	breast:
5	chr14:105499182..105500777-chr14:105502867..105506043,3	MCF-7	breast:
6	chr14:105487526..105488276-chr19:2476312..2477221,2	HCT-116	colon:
7	chr14:105440892..105442421-chr14:105508272..105511059,2	MCF-7	breast:
8	chr14:105456826..105459218-chr14:105499258..105501781,2	MCF-7	breast:
9	chr14:105191553..105192162-chr14:105511732..105512291,2	K562	blood:
10	chr14:105525277..105527273-chr14:105531148..105532800,2	K562	blood:
11	chr14:105441784..105443131-chr14:105511520..105512722,13	MCF-7	breast:
12	chr14:105511711..105512332-chr14:105633666..105634346,2	MCF-7	breast:
13	chr14:105511484..105514787-chr14:105515650..105518482,3	MCF-7	breast:
14	chr14:105399296..105399819-chr14:105511246..105512107,2	MCF-7	breast:
15	chr11:61099687..61101832-chr14:105486537..105488632,2	MCF-7	breast:
16	chr14:105446908..105449625-chr14:105498780..105501070,3	MCF-7	breast:
17	chr14:105512170..105512763-chr14:105653793..105654556,2	MCF-7	breast:
18	chr14:105486934..105489265-chr14:106372865..106374868,2	MCF-7	breast:
19	chr14:105445145..105447583-chr14:105504457..105506627,3	MCF-7	breast:
20	chr14:105516320..105518452-chr14:105527074..105529358,2	MCF-7	breast:
21	chr14:105406835..105407618-chr14:105511905..105512554,2	MCF-7	breast:
22	chr14:105399321..105400390-chr14:105511737..105512711,3	K562	blood:
23	chr14:105441809..105445909-chr14:105498091..105502867,8	MCF-7	breast:
24	chr14:105489544..105491309-chr14:105508216..105509890,2	K562	blood:
25	chr11:62609033..62609780-chr14:105486942..105487714,2	Hela-S3	cervix:
26	chr14:105331438..105333394-chr14:105486290..105488258,2	MCF-7	breast:
27	chr14:105440794..105444073-chr14:105510721..105514386,4	K562	blood:
28	chr14:105486865..105487846-chr3:33481300..33482173,3	Hela-S3	cervix:
29	chr14:105486628..105487531-chr14:105511852..105512355,2	MCF-7	breast:
30	chr14:105485865..105488702-chr14:105521834..105523359,2	K562	blood:
31	chr14:105442006..105443959-chr14:105511075..105512715,25	MCF-7	breast:
32	chr14:105441966..105444390-chr14:105493852..105497490,3	MCF-7	breast:
33	chr14:105499346..105501568-chr14:105503114..105506089,2	MCF-7	breast:
34	chr14:105502174..105504922-chr14:105632204..105633983,2	MCF-7	breast:
35	chr14:105497281..105500034-chr4:2219453..2221537,2	MCF-7	breast:
36	chr14:105486883..105487875-chr22:20003789..20004397,2	NB4	blood:
37	chr14:105329781..105332832-chr14:105486734..105489071,3	MCF-7	breast:
38	chr14:105329803..105331498-chr14:105500045..105502562,2	MCF-7	breast:
39	chr14:105451525..105454488-chr14:105528251..105530075,2	MCF-7	breast:
40	chr14:105433505..105435724-chr14:105485407..105487302,3	MCF-7	breast:
41	chr14:105488320..105490306-chr14:105542807..105544380,2	MCF-7	breast:
42	chr14:105480559..105481224-chr14:105511646..105512371,2	MCF-7	breast:
43	chr14:105443860..105446448-chr14:105515601..105519489,3	MCF-7	breast:
44	chr14:105487916..105489481-chr16:89626019..89628336,2	MCF-7	breast:
45	chr14:105446192..105446960-chr14:105511841..105512647,2	K562	blood:
46	chr14:105447918..105451142-chr14:105504307..105507319,3	MCF-7	breast:
47	chr14:105437131..105440834-chr14:105498624..105501222,7	MCF-7	breast:
48	chr1:145555267..145558092-chr14:105496837..105499202,2	MCF-7	breast:
49	chr14:105440515..105441511-chr14:105511823..105512480,2	MCF-7	breast:
50	chr14:105487558..105490083-chr14:105516106..105518275,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDCA4-1	chr14:105491240-105491553	XLOC_011150
2	lnc-GPR132-1	chr14:105533801-105534066	XLOC_011152
3	lnc-GPR132-1	chr14:105532071-105532089	XLOC_011152
4	lnc-CDCA4-1	chr14:105493560-105493581	XLOC_011150
5	lnc-GPR132-2	chr14:105506822-105506849	XLOC_011151
6	lnc-GPR132-2	chr14:105509257-105509821	XLOC_011151
7	lnc-C14orf79-3	chr14:105495648-105498282	NONHSAT040315

No data

Variant related genes	Relation type
CDCA4	TF binding region
GPR132	TF binding region
CDCA4	CpG island
GPR132	CpG island
ENSG00000211925	chromatin interactions
ENSG00000188542	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000140104	chromatin interactions
ENSG00000071082	chromatin interactions
ENSG00000225039	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000167986	chromatin interactions
ENSG00000247077	chromatin interactions
ENSG00000185347	chromatin interactions
ENSG00000213145	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000223947	chromatin interactions
ENSG00000121774	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000119714	chromatin interactions
ENSG00000136856	chromatin interactions
ENSG00000149476	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000113384	chromatin interactions
ENSG00000183828	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000200084	chromatin interactions
ENSG00000170779	chromatin interactions
ENSG00000167526	chromatin interactions
ENSG00000183484	chromatin interactions
ENSG00000257341	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000099889	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000144504	chromatin interactions
ENSG00000272086	chromatin interactions
ENSG00000153560	chromatin interactions
ENSG00000257622	chromatin interactions
NASP	miRNA target sites
NARG2	miRNA target sites

Extended variants
information (count: 1877 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:1877 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574238027	chr14:105485577-105485578	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs543189724	chr14:105485615-105485616	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs374525059	chr14:105485636-105485637	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs118104016	chr14:105485731-105485732	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs535022797	chr14:105485734-105485735	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs558142521	chr14:105485773-105485774	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs573186399	chr14:105485784-105485785	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs11848041	chr14:105485849-105485850	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs565100409	chr14:105485903-105485904	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs34816115	chr14:105485918-105485919	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs530725743	chr14:105485923-105485924	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs74090193	chr14:105485944-105485945	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560797345	chr14:105485972-105485973	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs537380899	chr14:105486008-105486009	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs191021574	chr14:105486048-105486049	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs200047183	chr14:105486050-105486051	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs370785211	chr14:105486051-105486052	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs550341175	chr14:105486056-105486057	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs12878261	chr14:105486060-105486061	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs374164629	chr14:105486080-105486081	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs532077932	chr14:105486112-105486113	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs144758786	chr14:105486118-105486119	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs151086123	chr14:105486119-105486120	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs34470099	chr14:105486120-105486121	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs58084255	chr14:105486121-105486122	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs9652406	chr14:105486138-105486139	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11848239	chr14:105486157-105486158	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs537742351	chr14:105486159-105486160	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs534474473	chr14:105486200-105486201	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs551291800	chr14:105486253-105486254	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs9652309	chr14:105486280-105486281	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs550710744	chr14:105486296-105486297	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs536820806	chr14:105486301-105486302	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs367799734	chr14:105486322-105486323	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs553264539	chr14:105486328-105486329	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs137974789	chr14:105486356-105486357	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs538720291	chr14:105486370-105486371	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs558916822	chr14:105486372-105486373	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs575233108	chr14:105486389-105486390	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs368280247	chr14:105486398-105486399	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs571441374	chr14:105486441-105486442	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs149462833	chr14:105486483-105486484	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs577443256	chr14:105486493-105486494	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs143001820	chr14:105486499-105486500	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs538708506	chr14:105486509-105486510	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs10143367	chr14:105486513-105486514	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs540442112	chr14:105486542-105486543	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs111573891	chr14:105486544-105486545	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs35825037	chr14:105486566-105486567	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs532243636	chr14:105486574-105486575	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Multiple sclerosis	20428171	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2080 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105463400-105485800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr14:105473800-105486600	Weak transcription	Aorta	Aorta
3	chr14:105474800-105485600	Weak transcription	Small Intestine	intestine
4	chr14:105475800-105485600	Enhancers	Fetal Heart	heart
5	chr14:105478200-105485600	Weak transcription	Liver	Liver
6	chr14:105478200-105485800	Weak transcription	Brain Angular Gyrus	brain
7	chr14:105478200-105486200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:105478400-105486200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:105478400-105486200	Weak transcription	Lung	lung
10	chr14:105478400-105486400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:105479400-105485600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:105479600-105485600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:105479600-105486200	Weak transcription	Left Ventricle	heart
14	chr14:105480200-105485600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:105480400-105485600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr14:105481400-105486400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:105482000-105486200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:105482200-105485800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr14:105482800-105485600	Weak transcription	Stomach Mucosa	stomach
20	chr14:105483000-105486200	Enhancers	Placenta	Placenta
21	chr14:105483800-105485600	Weak transcription	Psoas Muscle	Psoas
22	chr14:105484000-105485600	Enhancers	Fetal Lung	lung
23	chr14:105484000-105487200	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr14:105484200-105485600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:105484200-105485800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:105484200-105486200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:105484200-105486800	Transcr. at gene 5' and 3'	NHEK	skin
28	chr14:105484400-105485600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:105484400-105485600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:105484400-105485800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:105484400-105486200	Enhancers	Primary B cells from peripheral blood	blood
32	chr14:105484400-105486200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr14:105484400-105486400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:105484400-105486400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr14:105484400-105486800	Transcr. at gene 5' and 3'	A549	lung
36	chr14:105484600-105485600	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:105484600-105485600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:105484600-105485600	Enhancers	Fetal Muscle Leg	muscle
39	chr14:105484600-105485600	Genic enhancers	Fetal Stomach	stomach
40	chr14:105484600-105486400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:105484800-105485600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr14:105484800-105485600	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr14:105484800-105485600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
44	chr14:105484800-105485800	Enhancers	Primary T cells from cord blood	blood
45	chr14:105484800-105486000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:105484800-105486000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:105484800-105486000	Enhancers	Fetal Brain Male	brain
48	chr14:105484800-105486000	Flanking Active TSS	HepG2	liver
49	chr14:105484800-105486200	Enhancers	Right Ventricle	heart
50	chr14:105484800-105486200	Enhancers	Monocytes-CD14+_RO01746	blood

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