Variant report

Variant	nsv542205
Chromosome Location	chr14:104326137-104372608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1324)
CpG islands
(count:796)
Chromatin interactive
region (count:92)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1324 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:104347732-104348043	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:104345731-104347463	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:104355920-104356357	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:104329666-104329972	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:104328647-104329093	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:104352600-104353023	HepG2	liver:	n/a	n/a
7	ARID3A	chr14:104354847-104355189	HepG2	liver:	n/a	n/a
8	ATF3	chr14:104367487-104367693	K562	blood:	n/a	n/a
9	BACH1	chr14:104367431-104367729	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr14:104352611-104352892	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr14:104349871-104350089	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr14:104338320-104338350	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr14:104339039-104339210	H1-hESC	embryonic stem cell:	n/a	n/a
14	BHLHE40	chr14:104346404-104346918	HepG2	liver:	n/a	n/a
15	BHLHE40	chr14:104354637-104354838	K562	blood:	n/a	n/a
16	BHLHE40	chr14:104367402-104367738	K562	blood:	n/a	n/a
17	BHLHE40	chr14:104354543-104355073	HepG2	liver:	n/a	n/a
18	BHLHE40	chr14:104372366-104372411	HepG2	liver:	n/a	chr14:104372370-104372386
19	BHLHE40	chr14:104367521-104367711	GM12878	blood:	n/a	n/a
20	BHLHE40	chr14:104346415-104346682	HepG2	liver:	n/a	n/a
21	BHLHE40	chr14:104333979-104334195	HepG2	liver:	n/a	n/a
22	BHLHE40	chr14:104355553-104356309	HepG2	liver:	n/a	n/a
23	BHLHE40	chr14:104346450-104346698	A549	lung:	n/a	n/a
24	BHLHE40	chr14:104352741-104352869	K562	blood:	n/a	n/a
25	BHLHE40	chr14:104338283-104338696	GM12878	blood:	n/a	n/a
26	BHLHE40	chr14:104345769-104348105	HepG2	liver:	n/a	n/a
27	BHLHE40	chr14:104329625-104329942	HepG2	liver:	n/a	n/a
28	BHLHE40	chr14:104338325-104338496	K562	blood:	n/a	n/a
29	BHLHE40	chr14:104355754-104356355	K562	blood:	n/a	n/a
30	BHLHE40	chr14:104367493-104367638	A549	lung:	n/a	n/a
31	BRCA1	chr14:104367375-104367519	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr14:104338766-104338921	GM12878	blood:	n/a	n/a
33	BRCA1	chr14:104352026-104352059	HepG2	liver:	n/a	n/a
34	BRCA1	chr14:104346610-104346954	HepG2	liver:	n/a	n/a
35	BRCA1	chr14:104347700-104347836	HepG2	liver:	n/a	n/a
36	BRCA1	chr14:104333827-104333838	HepG2	liver:	n/a	n/a
37	BRCA1	chr14:104354783-104354896	HepG2	liver:	n/a	n/a
38	CBX3	chr14:104367389-104367778	K562	blood:	n/a	n/a
39	CCNT2	chr14:104338254-104338463	K562	blood:	n/a	n/a
40	CCNT2	chr14:104355936-104356172	K562	blood:	n/a	n/a
41	CCNT2	chr14:104355512-104355705	K562	blood:	n/a	n/a
42	CCNT2	chr14:104367475-104367670	K562	blood:	n/a	n/a
43	CEBPB	chr14:104371170-104371407	A549	lung:	n/a	chr14:104371302-104371313
44	CEBPB	chr14:104347441-104347848	HepG2	liver:	n/a	n/a
45	CEBPB	chr14:104371155-104371430	HepG2	liver:	n/a	chr14:104371302-104371313
46	CEBPB	chr14:104326587-104326807	IMR90	lung:	n/a	chr14:104326689-104326702 chr14:104326689-104326700
47	CEBPB	chr14:104356133-104356322	HepG2	liver:	n/a	n/a
48	CEBPB	chr14:104352572-104352955	HepG2	liver:	n/a	chr14:104352754-104352767 chr14:104352754-104352765 chr14:104352756-104352767
49	CEBPB	chr14:104352566-104353004	K562	blood:	n/a	chr14:104352754-104352767 chr14:104352754-104352765 chr14:104352756-104352767
50	CEBPB	chr14:104326642-104326878	Hela-S3	cervix:	n/a	chr14:104326689-104326702 chr14:104326689-104326700

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104346591-104346641	GM12891	blood:	n/a
2	chr14:104356043-104356093	AG09309	skin:	n/a
3	chr14:104372267-104372317	SAEC	small airway:	n/a
4	chr14:104346591-104346641	GM12891	blood:	n/a
5	chr14:104356043-104356093	AG09309	skin:	n/a
6	chr14:104372267-104372317	SAEC	small airway:	n/a
7	chr14:104372267-104372317	RPTEC	kidney:	n/a
8	chr14:104372267-104372317	HNPCEpiC	eye:	n/a
9	chr14:104338788-104338838	HRPEpiC	eye:	n/a
10	chr14:104345945-104345995	GM19239	blood:	n/a
11	chr14:104338788-104338838	PrEC	prostate:	n/a
12	chr14:104356172-104356222	SK-N-SH	brain:	n/a
13	chr14:104372267-104372317	HEK293	kidney:	embryo
14	chr14:104346591-104346641	HepG2	liver:	n/a
15	chr14:104356043-104356093	HCPEpiC	choroid plexus:	n/a
16	chr14:104355829-104355879	AG09319	gingival:	n/a
17	chr14:104352244-104352294	HRCEpiC	kidney:	n/a
18	chr14:104345945-104345995	HNPCEpiC	eye:	n/a
19	chr14:104372267-104372317	AG09319	gingival:	n/a
20	chr14:104372267-104372317	HUVEC	blood vessel:	n/a
21	chr14:104372267-104372317	HAEpiC	amniotic membrane:	n/a
22	chr14:104356172-104356222	A549	lung:	n/a
23	chr14:104372286-104372336	SK-N-SH_RA	brain:	n/a
24	chr14:104346241-104346291	HUVEC	blood vessel:	n/a
25	chr14:104355829-104355879	AG04449	skin:	fetal
26	chr14:104338788-104338838	AG04449	skin:	fetal
27	chr14:104372286-104372336	PrEC	prostate:	n/a
28	chr14:104372322-104372372	HAEpiC	amniotic membrane:	n/a
29	chr14:104345945-104345995	GM12891	blood:	n/a
30	chr14:104346241-104346291	GM06990	blood:	n/a
31	chr14:104338182-104338232	GM06990	blood:	n/a
32	chr14:104346591-104346641	HNPCEpiC	eye:	n/a
33	chr14:104346241-104346291	NT2-D1	testis:	n/a
34	chr14:104372286-104372336	T-47D	breast:	n/a
35	chr14:104338182-104338232	PrEC	prostate:	n/a
36	chr14:104338788-104338838	U87	brain:	n/a
37	chr14:104372286-104372336	HRCEpiC	kidney:	n/a
38	chr14:104338182-104338232	HAEpiC	amniotic membrane:	n/a
39	chr14:104372286-104372336	BE2_C	brain:	n/a
40	chr14:104356172-104356222	SK-N-MC	brain:	n/a
41	chr14:104352244-104352294	AG09319	gingival:	n/a
42	chr14:104346241-104346291	PFSK-1	brain:	n/a
43	chr14:104372322-104372372	K562	blood:	n/a
44	chr14:104345945-104345995	GM06990	blood:	n/a
45	chr14:104372322-104372372	PrEC	prostate:	n/a
46	chr14:104346241-104346291	LNCaP	prostate:	n/a
47	chr14:104355829-104355879	SK-N-MC	brain:	n/a
48	chr14:104372267-104372317	HCF	heart:	n/a
49	chr14:104346591-104346641	SAEC	small airway:	n/a
50	chr14:104338788-104338838	AG09309	skin:	n/a

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:104313013..104317291-chr14:104352199..104356564,5	MCF-7	breast:
2	chr14:104332802..104335861-chr14:104354361..104356131,3	MCF-7	breast:
3	chr14:104367158..104368083-chr14:104376457..104377219,2	MCF-7	breast:
4	chr14:104320014..104324951-chr14:104331915..104336985,8	MCF-7	breast:
5	chr14:104335008..104337928-chr14:104351341..104353510,3	MCF-7	breast:
6	chr14:104364346..104365968-chr14:104369278..104370785,2	MCF-7	breast:
7	chr14:104321201..104322886-chr14:104337478..104339238,2	MCF-7	breast:
8	chr14:104320594..104323018-chr14:104349310..104351645,2	MCF-7	breast:
9	chr14:104311399..104315345-chr14:104362414..104366566,6	MCF-7	breast:
10	chr14:104336130..104339253-chr14:104343612..104346035,4	MCF-7	breast:
11	chr14:104311389..104314895-chr14:104371036..104373822,3	MCF-7	breast:
12	chr14:104312778..104315212-chr14:104344720..104347233,3	MCF-7	breast:
13	chr14:104346303..104349191-chr14:104358619..104360504,2	MCF-7	breast:
14	chr14:104366230..104369087-chr14:104370576..104372362,2	MCF-7	breast:
15	chr14:104332802..104335861-chr14:104354361..104356131,3	MCF-7	breast:
16	chr14:104321174..104323261-chr14:104360889..104363923,3	MCF-7	breast:
17	chr14:104332785..104335222-chr14:104358563..104360147,2	MCF-7	breast:
18	chr14:104312089..104314904-chr14:104334479..104336712,3	MCF-7	breast:
19	chr14:104313694..104314632-chr14:104354396..104355277,2	MCF-7	breast:
20	chr14:104308464..104311195-chr14:104356027..104358587,2	MCF-7	breast:
21	chr14:104321329..104324090-chr14:104325687..104328665,2	K562	blood:
22	chr14:104348661..104350567-chr14:104371429..104374100,2	MCF-7	breast:
23	chr14:104330031..104331593-chr14:104332707..104335169,2	MCF-7	breast:
24	chr14:104362395..104363093-chr16:28332093..28332593,2	HCT-116	colon:
25	chr14:104311422..104315545-chr14:104356597..104360992,6	MCF-7	breast:
26	chr14:104367293..104369155-chr14:104426158..104428921,2	K562	blood:
27	chr14:104330031..104331593-chr14:104332707..104335169,2	MCF-7	breast:
28	chr14:104338890..104340679-chr14:104341099..104343309,2	MCF-7	breast:
29	chr14:104342467..104345187-chr14:104355394..104358113,2	MCF-7	breast:
30	chr14:104326668..104329470-chr14:104331066..104333626,2	MCF-7	breast:
31	chr14:104333964..104338190-chr14:104344769..104347298,4	MCF-7	breast:
32	chr14:104335008..104337928-chr14:104351341..104353510,3	MCF-7	breast:
33	chr14:104312594..104314828-chr14:104352032..104354856,2	MCF-7	breast:
34	chr14:104351018..104353647-chr14:104363104..104364953,3	MCF-7	breast:
35	chr14:104367142..104368042-chr14:104376703..104377288,2	MCF-7	breast:
36	chr14:104333923..104335751-chr14:104336446..104338911,2	MCF-7	breast:
37	chr14:104363448..104365054-chr14:104402588..104404294,2	MCF-7	breast:
38	chr14:104313504..104315492-chr14:104337844..104339348,2	MCF-7	breast:
39	chr14:104366173..104368914-chr14:104369657..104372808,3	MCF-7	breast:
40	chr14:104370928..104372709-chr14:104378368..104380617,2	MCF-7	breast:
41	chr14:104351018..104353647-chr14:104363104..104364953,3	MCF-7	breast:
42	chr14:104366173..104368914-chr14:104369657..104372808,3	MCF-7	breast:
43	chr14:104326668..104329470-chr14:104331066..104333626,2	MCF-7	breast:
44	chr14:104343466..104345327-chr14:104362441..104364606,2	K562	blood:
45	chr14:104314115..104315805-chr14:104327365..104329517,2	MCF-7	breast:
46	chr14:104321542..104325039-chr14:104354434..104358481,6	MCF-7	breast:
47	chr14:104327639..104330027-chr14:104333927..104335918,2	MCF-7	breast:
48	chr14:104342467..104345187-chr14:104355394..104358113,2	MCF-7	breast:
49	chr14:104364346..104365968-chr14:104369278..104370785,2	MCF-7	breast:
50	chr14:104348563..104351528-chr14:104352651..104356401,4	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R13B-1	chr14:104345681-104346641	NONHSAT040223
2	lnc-CTD-2134A5.2.1-2	chr14:104341392-104341434	ENSG00000258914
3	lnc-TDRD9-1	chr14:104372498-104373196	NONHSAT040229
4	lnc-PPP1R13B-1	chr14:104345681-104346641	NONHSAT040224
5	lnc-CTD-2134A5.2.1-2	chr14:104345741-104346670	XLOC_010945
6	lnc-PPP1R13B-1	chr14:104335739-104335925	NONHSAT040223
7	lnc-TDRD9-2	chr14:104369722-104370458	NONHSAT040228
8	lnc-TDRD9-3	chr14:104358583-104361100	l_1075_NR_024396
9	lnc-PPP1R13B-1	chr14:104345681-104345793	ENSG00000258534
10	lnc-CTD-2134A5.2.1-2	chr14:104343732-104343815	ENSG00000258914
11	lnc-PPP1R13B-1	chr14:104336208-104336349	ENSG00000258534
12	lnc-PPP1R13B-1	chr14:104336208-104336349	NONHSAT040223
13	lnc-PPP1R13B-1	chr14:104346301-104346448	ENSG00000258534
14	lnc-CTD-2134A5.2.1-2	chr14:104341297-104341341	XLOC_010945
15	lnc-CTD-2134A5.2.1-2	chr14:104341392-104341434	NONHSAT040225
16	lnc-PPP1R13B-1	chr14:104337662-104337749	NONHSAT040224
17	lnc-CTD-2134A5.2.1-2	chr14:104343732-104343932	XLOC_010945
18	lnc-CTD-2134A5.2.1-2	chr14:104341055-104341377	NONHSAT040225

No data

Variant related genes	Relation type
ENSG00000258534	TF binding region
ENSG00000258914	TF binding region
ENSG00000258534	CpG island
ENSG00000258914	CpG island
ENSG00000100711	chromatin interactions
ENSG00000258914	chromatin interactions
ENSG00000088808	chromatin interactions
ENSG00000258534	chromatin interactions
ENSG00000156411	chromatin interactions
ENSG00000258735	chromatin interactions
ENSG00000264439	chromatin interactions
ENSG00000126215	chromatin interactions
PPP3CA	miRNA target sites
PPP2R5C	miRNA target sites
PPP2R5A	miRNA target sites

Extended variants
information (count: 2044 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:2044 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568965986	chr14:104326215-104326216	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs533893640	chr14:104326216-104326217	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs189925269	chr14:104326242-104326243	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs372872437	chr14:104326255-104326256	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs112844946	chr14:104326259-104326260	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556654297	chr14:104326277-104326278	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs146331905	chr14:104326320-104326321	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542060435	chr14:104326350-104326351	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561920812	chr14:104326459-104326460	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs572371118	chr14:104326472-104326473	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs541360056	chr14:104326497-104326498	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs563915784	chr14:104326500-104326501	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs554032876	chr14:104326519-104326520	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs111697521	chr14:104326521-104326522	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576475363	chr14:104326547-104326548	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549588169	chr14:104326557-104326558	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs563417042	chr14:104326618-104326619	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs192784318	chr14:104326622-104326623	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs548384675	chr14:104326628-104326629	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs568368765	chr14:104326637-104326638	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs534218765	chr14:104326653-104326654	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184874075	chr14:104326717-104326718	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11627337	chr14:104326720-104326721	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139269817	chr14:104326760-104326761	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs556356363	chr14:104326803-104326804	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7149978	chr14:104326833-104326834	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535596433	chr14:104326853-104326854	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs555595891	chr14:104326905-104326906	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs188389983	chr14:104326915-104326916	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs193032092	chr14:104326916-104326917	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs145110307	chr14:104326918-104326919	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs577537645	chr14:104326947-104326948	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs78489306	chr14:104326973-104326974	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs367819926	chr14:104326986-104326987	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs67246795	chr14:104326987-104326988	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563005136	chr14:104327036-104327037	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544369237	chr14:104327081-104327082	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs184763486	chr14:104327095-104327096	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs542361003	chr14:104327096-104327097	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs189226329	chr14:104327139-104327140	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs527924089	chr14:104327164-104327165	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs4405486	chr14:104327212-104327213	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs547753529	chr14:104327229-104327230	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368331537	chr14:104327240-104327241	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs571147339	chr14:104327260-104327261	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs562572951	chr14:104327286-104327287	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs547938399	chr14:104327295-104327296	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs550150281	chr14:104327341-104327342	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs570108549	chr14:104327384-104327385	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs576641385	chr14:104327397-104327398	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	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
small cell lung cancer	20016488	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
Breast cancer	21364760	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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	20824076	CNVD
Colorectal cancer	20824076	CNVD
Non-small cell lung cancer	20824076	CNVD
Ovarian cancer	20824076	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1444 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104315200-104327600	Weak transcription	Ovary	ovary
2	chr14:104321800-104326200	Weak transcription	Right Atrium	heart
3	chr14:104322600-104327800	Weak transcription	Fetal Heart	heart
4	chr14:104322800-104327800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr14:104322800-104327800	Weak transcription	Gastric	stomach
6	chr14:104323600-104327800	Weak transcription	Pancreas	Pancrea
7	chr14:104323600-104336000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:104323600-104337600	Weak transcription	Fetal Intestine Small	intestine
9	chr14:104325200-104326200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:104325200-104326200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:104325200-104333600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:104325800-104326400	Enhancers	Spleen	Spleen
13	chr14:104325800-104329000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:104326000-104326200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:104326000-104326200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr14:104326000-104326400	Enhancers	Lung	lung
17	chr14:104326000-104326600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:104326000-104326600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr14:104326000-104326600	Enhancers	Fetal Muscle Leg	muscle
20	chr14:104326000-104326600	Enhancers	Left Ventricle	heart
21	chr14:104326000-104326600	Enhancers	Right Ventricle	heart
22	chr14:104326000-104326600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr14:104326000-104326800	Flanking Active TSS	HepG2	liver
24	chr14:104326000-104327000	Enhancers	Adipose Nuclei	Adipose
25	chr14:104326000-104327000	Enhancers	HUVEC	blood vessel
26	chr14:104326000-104327200	Enhancers	Liver	Liver
27	chr14:104326200-104326400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr14:104326200-104326400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:104326200-104326400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:104326200-104326400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:104326200-104326400	Bivalent Enhancer	Placenta	Placenta
32	chr14:104326200-104326400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr14:104326200-104326600	Enhancers	Right Atrium	heart
34	chr14:104326400-104326600	Enhancers	Brain Hippocampus Middle	brain
35	chr14:104326400-104326600	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr14:104326400-104327000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:104326400-104327800	Weak transcription	Lung	lung
38	chr14:104326400-104327800	Weak transcription	Spleen	Spleen
39	chr14:104326400-104328200	Enhancers	Placenta	Placenta
40	chr14:104326600-104327800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:104326600-104327800	Weak transcription	Fetal Muscle Leg	muscle
42	chr14:104326600-104328000	Weak transcription	Left Ventricle	heart
43	chr14:104326600-104332200	Weak transcription	Right Ventricle	heart
44	chr14:104326600-104336400	Weak transcription	Right Atrium	heart
45	chr14:104326800-104327800	Enhancers	HepG2	liver
46	chr14:104327200-104327600	Weak transcription	Liver	Liver
47	chr14:104327600-104328400	Enhancers	Liver	Liver
48	chr14:104327600-104328400	Enhancers	Ovary	ovary
49	chr14:104327800-104328000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:104327800-104328000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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