Variant report

Variant	nsv556979
Chromosome Location	chr12:1700134-1704325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:925)
CpG islands
(count:611)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:925 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr12:1703979-1704186	K562	blood:	n/a	n/a
2	ATF3	chr12:1703921-1704219	HepG2	liver:	n/a	n/a
3	ATF3	chr12:1703905-1704290	A549	lung:	n/a	n/a
4	ATF3	chr12:1703691-1704192	A549	lung:	n/a	n/a
5	BACH1	chr12:1704012-1704359	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr12:1699781-1700191	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr12:1701804-1702431	GM12878	blood:	n/a	n/a
8	BCL3	chr12:1702811-1703565	GM12878	blood:	n/a	chr12:1703277-1703290 chr12:1703246-1703255 chr12:1703251-1703264
9	BCL3	chr12:1701812-1702390	GM12878	blood:	n/a	n/a
10	BCL3	chr12:1702399-1703218	A549	lung:	n/a	n/a
11	BCLAF1	chr12:1703326-1703559	GM12878	blood:	n/a	n/a
12	BCLAF1	chr12:1702596-1703225	GM12878	blood:	n/a	n/a
13	BCLAF1	chr12:1703961-1704290	GM12878	blood:	n/a	n/a
14	BHLHE40	chr12:1702937-1703126	K562	blood:	n/a	n/a
15	BHLHE40	chr12:1703615-1704317	K562	blood:	n/a	chr12:1703756-1703772 chr12:1703860-1703876 chr12:1703887-1703903
16	BHLHE40	chr12:1703541-1704274	HepG2	liver:	n/a	chr12:1703756-1703772 chr12:1703860-1703876 chr12:1703887-1703903
17	BHLHE40	chr12:1703673-1704161	A549	lung:	n/a	chr12:1703756-1703772 chr12:1703860-1703876 chr12:1703887-1703903
18	BHLHE40	chr12:1701792-1702349	K562	blood:	n/a	n/a
19	BHLHE40	chr12:1701573-1702554	GM12878	blood:	n/a	n/a
20	BHLHE40	chr12:1703132-1704326	GM12878	blood:	n/a	chr12:1703756-1703772 chr12:1703860-1703876 chr12:1703282-1703298 chr12:1703887-1703903
21	BRCA1	chr12:1704097-1704217	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr12:1704098-1704155	HepG2	liver:	n/a	n/a
23	BRCA1	chr12:1702026-1702381	GM12878	blood:	n/a	n/a
24	BRCA1	chr12:1703950-1704220	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr12:1704032-1704330	K562	blood:	n/a	n/a
26	CCNT2	chr12:1701679-1704259	K562	blood:	n/a	chr12:1701691-1701700 chr12:1704222-1704231
27	CEBPB	chr12:1703958-1704201	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr12:1702761-1702791	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr12:1702722-1702807	HepG2	liver:	n/a	n/a
30	CEBPD	chr12:1703267-1703620	HepG2	liver:	n/a	n/a
31	CHD1	chr12:1703705-1704169	H1-hESC	embryonic stem cell:	n/a	chr12:1703926-1703936
32	CHD1	chr12:1701546-1702323	GM12878	blood:	n/a	n/a
33	CHD1	chr12:1701397-1706266	IMR90	lung:	n/a	chr12:1703237-1703247 chr12:1704434-1704444 chr12:1703259-1703269 chr12:1703926-1703936
34	CHD1	chr12:1702989-1703140	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr12:1700640-1700838	GM12878	blood:	n/a	n/a
36	CHD1	chr12:1702663-1704334	GM12878	blood:	n/a	chr12:1703237-1703247 chr12:1703259-1703269 chr12:1703926-1703936
37	CHD2	chr12:1703861-1704103	HepG2	liver:	n/a	chr12:1703926-1703936
38	CHD2	chr12:1702989-1703142	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr12:1702293-1702483	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr12:1701565-1703513	GM12878	blood:	n/a	chr12:1703237-1703247 chr12:1703259-1703269
41	CHD2	chr12:1703767-1704188	K562	blood:	n/a	chr12:1703926-1703936
42	CHD2	chr12:1702923-1702926	HepG2	liver:	n/a	n/a
43	CHD2	chr12:1702835-1704367	Hela-S3	cervix:	n/a	chr12:1703237-1703247 chr12:1703259-1703269 chr12:1703926-1703936
44	CHD2	chr12:1702913-1703012	K562	blood:	n/a	n/a
45	CREB1	chr12:1702782-1703562	A549	lung:	n/a	n/a
46	CREB1	chr12:1703583-1704242	A549	lung:	n/a	n/a
47	CTBP2	chr12:1699512-1700185	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTBP2	chr12:1701629-1703245	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTBP2	chr12:1703753-1704215	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr12:1700220-1700370	HCM	heart:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1703169-1703219	HAEpiC	amniotic membrane:	n/a
2	chr12:1703169-1703219	HAEpiC	amniotic membrane:	n/a
3	chr12:1702874-1702924	SKMC	muscle:	n/a
4	chr12:1704156-1704206	Jurkat	blood:	n/a
5	chr12:1703181-1703231	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:1702001-1702051	SK-N-MC	brain:	n/a
7	chr12:1703169-1703219	MCF10A-Er-Src	breast:	n/a
8	chr12:1702001-1702051	AG04449	skin:	fetal
9	chr12:1704065-1704115	AG04450	lung:	fetal
10	chr12:1702116-1702166	ECC-1	luminal epithelium:	n/a
11	chr12:1704080-1704130	GM19239	blood:	n/a
12	chr12:1703181-1703231	SAEC	small airway:	n/a
13	chr12:1703704-1703754	U87	brain:	n/a
14	chr12:1704156-1704206	LNCaP	prostate:	n/a
15	chr12:1702001-1702051	U87	brain:	n/a
16	chr12:1704156-1704206	HCT-116	colon:	n/a
17	chr12:1703704-1703754	AG04450	lung:	fetal
18	chr12:1703704-1703754	HCF	heart:	n/a
19	chr12:1704065-1704115	SAEC	small airway:	n/a
20	chr12:1704156-1704206	HepG2	liver:	n/a
21	chr12:1703704-1703754	HNPCEpiC	eye:	n/a
22	chr12:1703704-1703754	HCM	heart:	n/a
23	chr12:1704080-1704130	HCT-116	colon:	n/a
24	chr12:1702874-1702924	MCF10A-Er-Src	breast:	n/a
25	chr12:1702001-1702051	HL-60	blood:	n/a
26	chr12:1702874-1702924	H1-hESC	embryonic stem cell:	embryo
27	chr12:1704263-1704313	SK-N-SH_RA	brain:	n/a
28	chr12:1702116-1702166	BE2_C	brain:	n/a
29	chr12:1703704-1703754	HRE	kidney:	n/a
30	chr12:1702116-1702166	HCM	heart:	n/a
31	chr12:1703181-1703231	Jurkat	blood:	n/a
32	chr12:1702116-1702166	GM19239	blood:	n/a
33	chr12:1702874-1702924	Jurkat	blood:	n/a
34	chr12:1702001-1702051	MCF-7	breast:	n/a
35	chr12:1702874-1702924	ovcar-3	ovarian:	n/a
36	chr12:1703704-1703754	RPTEC	kidney:	n/a
37	chr12:1704080-1704130	PFSK-1	brain:	n/a
38	chr12:1702001-1702051	MCF10A-Er-Src	breast:	n/a
39	chr12:1704080-1704130	AG09319	gingival:	n/a
40	chr12:1703181-1703231	GM12891	blood:	n/a
41	chr12:1703704-1703754	MCF-7	breast:	n/a
42	chr12:1703169-1703219	GM12878	blood:	n/a
43	chr12:1704080-1704130	HepG2	liver:	n/a
44	chr12:1702874-1702924	NH-A	brain:	n/a
45	chr12:1704080-1704130	HNPCEpiC	eye:	n/a
46	chr12:1703181-1703231	HCM	heart:	n/a
47	chr12:1704156-1704206	PFSK-1	brain:	n/a
48	chr12:1703704-1703754	PANC-1	pancreas:	n/a
49	chr12:1703181-1703231	AG10803	skin:	n/a
50	chr12:1703704-1703754	AG10803	skin:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1224466..1226137-chr12:1702484..1704918,2	MCF-7	breast:
2	chr12:1699624..1701795-chr12:1708636..1710140,2	MCF-7	breast:
3	chr12:1700533..1702051-chr12:1702617..1704531,2	MCF-7	breast:
4	chr12:1684651..1686904-chr12:1699807..1702010,2	K562	blood:
5	chr12:547432..549780-chr12:1702241..1704941,2	MCF-7	breast:
6	chr12:1703509..1704108-chr6:26216519..26217376,2	Hela-S3	cervix:
7	chr12:1697332..1701381-chr12:1702277..1705597,9	MCF-7	breast:
8	chr12:1691367..1694313-chr12:1697281..1700440,3	MCF-7	breast:
9	chr12:1703426..1704364-chr18:71959175..71959778,2	NB4	blood:
10	chr12:1057714..1059446-chr12:1702277..1704204,2	MCF-7	breast:
11	chr12:1703685..1705372-chr12:1898619..1900530,2	K562	blood:
12	chr11:64645557..64646112-chr12:1703529..1704108,2	Hela-S3	cervix:
13	chr12:1703157..1705505-chr12:1739226..1741204,2	MCF-7	breast:
14	chr12:1693823..1696197-chr12:1697644..1701450,4	MCF-7	breast:
15	chr12:1700363..1702369-chr12:1703399..1707703,4	K562	blood:
16	chr12:1703565..1707939-chr12:1709383..1712701,6	MCF-7	breast:
17	chr12:1401709..1403749-chr12:1700206..1701760,2	K562	blood:

No data

Variant related genes	Relation type
FBXL14	TF binding region
FBXL14	CpG island
ENSG00000002016	chromatin interactions
ENSG00000166347	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000082805	chromatin interactions
ENSG00000120647	chromatin interactions
ENSG00000111186	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000110047	chromatin interactions
ENSG00000171823	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7314710	chr12:1700134-1700135	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553783386	chr12:1700149-1700150	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200265540	chr12:1700165-1700166	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377697689	chr12:1700166-1700167	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542880455	chr12:1700228-1700229	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560959057	chr12:1700231-1700232	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374673217	chr12:1700261-1700262	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs140885399	chr12:1700269-1700270	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370319103	chr12:1700276-1700277	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564864216	chr12:1700344-1700345	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568833485	chr12:1700391-1700392	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571599363	chr12:1700410-1700411	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144841199	chr12:1700415-1700416	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191498241	chr12:1700417-1700418	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560422944	chr12:1700499-1700500	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373668594	chr12:1700513-1700514	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs78974009	chr12:1700515-1700516	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs398018216	chr12:1700528-1700529	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs397690918	chr12:1700529-1700530	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374065695	chr12:1700530-1700531	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367922878	chr12:1700531-1700532	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs527871970	chr12:1700538-1700539	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549213894	chr12:1700540-1700541	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542327756	chr12:1700544-1700545	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs183413584	chr12:1700612-1700613	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368855370	chr12:1700725-1700726	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566698207	chr12:1700762-1700763	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs186323411	chr12:1700795-1700796	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376147787	chr12:1700800-1700801	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374707419	chr12:1700810-1700811	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs117223950	chr12:1700829-1700830	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189908313	chr12:1700859-1700860	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554022841	chr12:1700886-1700887	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572414886	chr12:1700893-1700894	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs11061870	chr12:1700897-1700898	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536427007	chr12:1700900-1700901	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554837553	chr12:1700901-1700902	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs3741975	chr12:1700934-1700935	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543477338	chr12:1700975-1700976	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs141721204	chr12:1701026-1701027	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576732129	chr12:1701027-1701028	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs540712157	chr12:1701029-1701030	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs117787464	chr12:1701098-1701099	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528008215	chr12:1701160-1701161	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182222954	chr12:1701183-1701184	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs58591232	chr12:1701186-1701187	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs75867519	chr12:1701230-1701231	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576737463	chr12:1701356-1701357	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374309809	chr12:1701357-1701358	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550205479	chr12:1701358-1701359	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1690400-1701000	Weak transcription	Gastric	stomach
2	chr12:1693000-1700200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:1696600-1700800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:1697000-1700800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:1698400-1700800	Weak transcription	Spleen	Spleen
6	chr12:1698600-1700200	Enhancers	Small Intestine	intestine
7	chr12:1698600-1700600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:1698600-1700800	Enhancers	NHEK	skin
9	chr12:1698600-1701600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:1698800-1700600	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr12:1698800-1701000	Flanking Active TSS	Fetal Brain Female	brain
12	chr12:1698800-1701400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr12:1698800-1701800	Enhancers	Fetal Heart	heart
14	chr12:1699000-1700200	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr12:1699000-1700200	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr12:1699000-1700400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr12:1699200-1700200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:1699200-1700200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:1699200-1700400	Flanking Active TSS	HSMMtube	muscle
20	chr12:1699200-1701200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:1699200-1701200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:1699200-1701200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:1699200-1701600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:1699200-1701600	Enhancers	Pancreas	Pancrea
25	chr12:1699200-1702000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:1699200-1703200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:1699400-1700200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr12:1699400-1700400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:1699400-1700400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr12:1699400-1700400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr12:1699400-1700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:1699400-1700400	Flanking Active TSS	HSMM	muscle
33	chr12:1699400-1700600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:1699400-1700600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr12:1699400-1700600	Active TSS	Stomach Smooth Muscle	stomach
36	chr12:1699400-1700800	Enhancers	HepG2	liver
37	chr12:1699400-1701200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr12:1699400-1701200	Flanking Active TSS	GM12878-XiMat	blood
39	chr12:1699400-1701200	Flanking Active TSS	NH-A	brain
40	chr12:1699400-1701600	Enhancers	Primary hematopoietic stem cells	blood
41	chr12:1699400-1703000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr12:1699400-1703000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr12:1699400-1703000	Flanking Active TSS	Osteobl	bone
44	chr12:1699600-1700200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr12:1699600-1700200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:1699600-1700200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:1699600-1700200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:1699600-1700200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr12:1699600-1700200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:1699600-1700200	Flanking Active TSS	Liver	Liver

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