Variant report

Variant	nsv1037590
Chromosome Location	chr14:21659344-21708852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1945)
CpG islands
(count:427)
Chromatin interactive
region (count:69)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:10)

(count:1945 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:21697647-21697673	K562	blood:	n/a	n/a
2	ATF2	chr14:21674092-21674706	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr14:21672214-21673111	GM12878	blood:	n/a	n/a
4	ATF2	chr14:21671705-21673219	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr14:21669277-21669678	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr14:21673281-21674952	GM12878	blood:	n/a	n/a
7	ATF2	chr14:21671164-21671970	GM12878	blood:	n/a	n/a
8	BCL3	chr14:21665003-21666748	A549	lung:	n/a	n/a
9	BCL3	chr14:21670042-21670347	GM12878	blood:	n/a	n/a
10	BCL3	chr14:21667303-21667605	GM12878	blood:	n/a	n/a
11	BCL3	chr14:21673671-21674743	GM12878	blood:	n/a	n/a
12	BCL3	chr14:21668935-21669706	GM12878	blood:	n/a	n/a
13	BCL3	chr14:21673287-21673627	GM12878	blood:	n/a	n/a
14	BCL3	chr14:21663286-21664632	A549	lung:	n/a	n/a
15	BCL3	chr14:21669980-21671752	A549	lung:	n/a	n/a
16	BCL3	chr14:21666904-21669895	A549	lung:	n/a	n/a
17	BCL3	chr14:21670476-21673261	GM12878	blood:	n/a	chr14:21672778-21672787
18	BCL3	chr14:21664965-21666757	A549	lung:	n/a	n/a
19	BCL3	chr14:21667620-21668187	A549	lung:	n/a	n/a
20	BCLAF1	chr14:21671128-21675456	GM12878	blood:	n/a	chr14:21672778-21672787
21	BCLAF1	chr14:21706763-21707518	GM12878	blood:	n/a	n/a
22	BCLAF1	chr14:21705331-21705994	GM12878	blood:	n/a	n/a
23	BCLAF1	chr14:21674052-21674559	GM12878	blood:	n/a	n/a
24	BHLHE40	chr14:21660193-21660398	K562	blood:	n/a	n/a
25	BRCA1	chr14:21699415-21699501	GM12878	blood:	n/a	n/a
26	BRCA1	chr14:21663745-21663770	HepG2	liver:	n/a	n/a
27	CCNT2	chr14:21660109-21660405	K562	blood:	n/a	n/a
28	CCNT2	chr14:21674840-21675631	K562	blood:	n/a	n/a
29	CCNT2	chr14:21676495-21676698	K562	blood:	n/a	n/a
30	CCNT2	chr14:21674265-21674637	K562	blood:	n/a	n/a
31	CEBPB	chr14:21665611-21665883	K562	blood:	n/a	n/a
32	CEBPB	chr14:21665417-21665925	A549	lung:	n/a	n/a
33	CEBPB	chr14:21661038-21661205	K562	blood:	n/a	chr14:21661097-21661108
34	CEBPB	chr14:21665552-21665908	IMR90	lung:	n/a	n/a
35	CEBPB	chr14:21699339-21699811	MCF-7	breast:	n/a	chr14:21699571-21699582
36	CEBPB	chr14:21699397-21699763	IMR90	lung:	n/a	chr14:21699571-21699582
37	CEBPB	chr14:21660914-21661269	HepG2	liver:	n/a	chr14:21661097-21661108
38	CEBPB	chr14:21660054-21660282	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr14:21699301-21699819	A549	lung:	n/a	chr14:21699571-21699582
40	CEBPB	chr14:21698112-21698459	A549	lung:	n/a	n/a
41	CEBPB	chr14:21699396-21699731	Hela-S3	cervix:	n/a	chr14:21699571-21699582
42	CEBPB	chr14:21699408-21699718	K562	blood:	n/a	chr14:21699571-21699582
43	CEBPB	chr14:21659973-21660136	K562	blood:	n/a	n/a
44	CEBPB	chr14:21686243-21686651	Hela-S3	cervix:	n/a	chr14:21686525-21686538 chr14:21686494-21686506
45	CEBPB	chr14:21686238-21687069	IMR90	lung:	n/a	chr14:21686525-21686538 chr14:21686494-21686506
46	CEBPB	chr14:21660945-21661264	IMR90	lung:	n/a	chr14:21661097-21661108
47	CEBPB	chr14:21665558-21665907	A549	lung:	n/a	n/a
48	CEBPB	chr14:21665566-21665906	HepG2	liver:	n/a	n/a
49	CEBPB	chr14:21702038-21702213	HepG2	liver:	n/a	n/a
50	CEBPB	chr14:21660061-21660213	HepG2	liver:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21673796-21673846	HEEpiC	esophagus:	n/a
2	chr14:21704611-21704661	HL-60	blood:	n/a
3	chr14:21689119-21689169	PANC-1	pancreas:	n/a
4	chr14:21673796-21673846	GM19239	blood:	n/a
5	chr14:21673796-21673846	AG04450	lung:	fetal
6	chr14:21676297-21676347	ProgFib	skin:	n/a
7	chr14:21660372-21660422	LNCaP	prostate:	n/a
8	chr14:21673491-21673541	HCPEpiC	choroid plexus:	n/a
9	chr14:21673491-21673541	SK-N-SH_RA	brain:	n/a
10	chr14:21676297-21676347	BJ	skin:	n/a
11	chr14:21673491-21673541	Hepatocyte	liver:	n/a
12	chr14:21660372-21660422	HCM	heart:	n/a
13	chr14:21673491-21673541	SAEC	small airway:	n/a
14	chr14:21660372-21660422	HEEpiC	esophagus:	n/a
15	chr14:21689119-21689169	HPAEpiC	pulmonary alveolar:	n/a
16	chr14:21676297-21676347	PANC-1	pancreas:	n/a
17	chr14:21673491-21673541	LNCaP	prostate:	n/a
18	chr14:21673796-21673846	HCPEpiC	choroid plexus:	n/a
19	chr14:21689119-21689169	SKMC	muscle:	n/a
20	chr14:21673796-21673846	HEK293	kidney:	embryo
21	chr14:21679191-21679241	PrEC	prostate:	n/a
22	chr14:21673491-21673541	AoSMC	blood vessel:	n/a
23	chr14:21689119-21689169	SK-N-SH	brain:	n/a
24	chr14:21660372-21660422	ECC-1	luminal epithelium:	n/a
25	chr14:21673796-21673846	U87	brain:	n/a
26	chr14:21676297-21676347	SK-N-SH_RA	brain:	n/a
27	chr14:21660372-21660422	AG10803	skin:	n/a
28	chr14:21660372-21660422	GM12891	blood:	n/a
29	chr14:21660372-21660422	HMEC	breast:	n/a
30	chr14:21660372-21660422	Hela-S3	cervix:	n/a
31	chr14:21676297-21676347	AG04450	lung:	fetal
32	chr14:21673796-21673846	HepG2	liver:	n/a
33	chr14:21673491-21673541	H1-hESC	embryonic stem cell:	embryo
34	chr14:21689119-21689169	T-47D	breast:	n/a
35	chr14:21673796-21673846	ProgFib	skin:	n/a
36	chr14:21673491-21673541	CMK	blood:	n/a
37	chr14:21660372-21660422	HL-60	blood:	n/a
38	chr14:21673796-21673846	NHBE	bronchial:	n/a
39	chr14:21673796-21673846	ovcar-3	ovarian:	n/a
40	chr14:21660372-21660422	HPAEpiC	pulmonary alveolar:	n/a
41	chr14:21673796-21673846	ECC-1	luminal epithelium:	n/a
42	chr14:21676297-21676347	LNCaP	prostate:	n/a
43	chr14:21689119-21689169	HepG2	liver:	n/a
44	chr14:21689119-21689169	H1-hESC	embryonic stem cell:	embryo
45	chr14:21676297-21676347	HepG2	liver:	n/a
46	chr14:21704611-21704661	MCF-7	breast:	n/a
47	chr14:21676297-21676347	CMK	blood:	n/a
48	chr14:21673796-21673846	AG09309	skin:	n/a
49	chr14:21679191-21679241	H1-hESC	embryonic stem cell:	embryo
50	chr14:21689119-21689169	HUVEC	blood vessel:	n/a

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:21659836..21662080-chr14:21664452..21667045,3	MCF-7	breast:
2	chr14:21702152..21704976-chr14:21712747..21715545,2	MCF-7	breast:
3	chr14:21692516..21695452-chr14:21813712..21815448,2	MCF-7	breast:
4	chr14:21682890..21684914-chr14:21686115..21687924,2	K562	blood:
5	chr14:21694684..21697867-chr14:21700846..21706348,4	MCF-7	breast:
6	chr14:21687620..21689527-chr14:21733855..21735500,2	MCF-7	breast:
7	chr14:21659338..21661906-chr14:21661938..21664120,2	MCF-7	breast:
8	chr14:21683942..21686435-chr14:21849185..21850784,2	MCF-7	breast:
9	chr14:21702039..21704805-chr14:21710008..21711834,2	MCF-7	breast:
10	chr14:21671465..21674942-chr14:21676988..21681110,7	MCF-7	breast:
11	chr14:21694684..21697867-chr14:21700846..21706348,4	MCF-7	breast:
12	chr14:21680608..21683274-chr14:21683890..21685747,2	MCF-7	breast:
13	chr14:21521893..21523709-chr14:21667067..21669493,2	K562	blood:
14	chr14:21678499..21681454-chr14:21736107..21737906,2	MCF-7	breast:
15	chr14:21678068..21679716-chr14:21682875..21685617,2	K562	blood:
16	chr14:21670001..21672457-chr14:21706378..21709017,2	K562	blood:
17	chr14:21670255..21673011-chr14:21674256..21675777,2	K562	blood:
18	chr14:21701295..21703897-chr14:21842847..21844816,2	K562	blood:
19	chr14:21691458..21693876-chr14:21698799..21700473,3	K562	blood:
20	chr14:21707431..21709141-chr14:21735831..21737898,2	K562	blood:
21	chr14:21670001..21672457-chr14:21706378..21709017,2	K562	blood:
22	chr14:21689000..21691268-chr14:21851211..21853511,2	MCF-7	breast:
23	chr14:21649811..21651897-chr14:21658475..21660736,2	MCF-7	breast:
24	chr14:21703629..21706503-chr14:21849764..21851749,2	MCF-7	breast:
25	chr14:21538648..21540908-chr14:21670664..21672653,2	K562	blood:
26	chr14:21679501..21682581-chr14:21683492..21686432,4	K562	blood:
27	chr14:21667283..21669208-chr14:21670633..21672838,2	MCF-7	breast:
28	chr14:21679834..21681471-chr14:21683651..21685737,2	K562	blood:
29	chr14:21689585..21692266-chr14:21692375..21695207,2	MCF-7	breast:
30	chr14:21692662..21694223-chr14:21694596..21696164,2	MCF-7	breast:
31	chr14:21708482..21710752-chr14:21732706..21735405,2	MCF-7	breast:
32	chr14:21678845..21680444-chr14:21704444..21707261,2	K562	blood:
33	chr14:21707926..21709527-chr14:21851833..21853917,2	MCF-7	breast:
34	chr14:21659338..21661906-chr14:21661938..21664120,2	MCF-7	breast:
35	chr14:21705289..21706946-chr14:21709944..21711637,2	MCF-7	breast:
36	chr14:21704009..21707025-chr14:21707040..21709471,4	MCF-7	breast:
37	chr14:21690598..21692490-chr14:21705492..21708066,2	MCF-7	breast:
38	chr14:21688131..21691193-chr14:21736092..21738684,3	MCF-7	breast:
39	chr14:21705854..21707392-chr14:21708475..21711254,2	K562	blood:
40	chr14:21700378..21702346-chr14:21819126..21821504,2	MCF-7	breast:
41	chr14:21682890..21684914-chr14:21686115..21687924,2	K562	blood:
42	chr14:21700872..21703141-chr14:21723886..21726612,2	K562	blood:
43	chr14:21708563..21711469-chr14:21841010..21843260,2	K562	blood:
44	chr14:21659836..21662080-chr14:21664452..21667045,3	MCF-7	breast:
45	chr14:21682936..21686679-chr14:21688141..21690652,4	K562	blood:
46	chr14:21704014..21706045-chr14:21718733..21720971,2	K562	blood:
47	chr14:21682920..21686919-chr14:21693629..21695651,3	MCF-7	breast:
48	chr14:21684971..21687405-chr14:21736664..21738674,3	MCF-7	breast:
49	chr14:21701373..21707828-chr14:21708039..21714266,10	K562	blood:
50	chr14:21701373..21707828-chr14:21708039..21714266,10	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPGRIP1-2	chr14:21669731-21672514	ENSG00000247386
2	lnc-HNRNPC-1	chr14:21668620-21670092	ENSG00000258441
3	lnc-HNRNPC-1	chr14:21668238-21670092	NONHSAT035664
4	lnc-HNRNPC-1	chr14:21674770-21675059	ENSG00000251466
5	lnc-HNRNPC-1	chr14:21668621-21670092	ENSG00000251466
6	lnc-HNRNPC-1	chr14:21674770-21675059	NONHSAT035664
7	lnc-HNRNPC-1	chr14:21674770-21675059	ENSG00000258441
8	lnc-RPGRIP1-2	chr14:21668434-21668954	ENSG00000247386
9	lnc-HNRNPC-1	chr14:21668238-21673662	ENSG00000258441
10	lnc-HNRNPC-1	chr14:21668240-21672514	NONHSAT035665

No data

(count:10 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HNRNPC	hsa-miR-186-5p	chr14:21679345-21679339
2	HNRNPC	hsa-miR-30c-5p	chr14:21678667-21678690
3	HNRNPC	hsa-let-7e-5p	chr14:21679132-21679153
4	HNRNPC	hsa-miR-186-5p	chr14:21679340-21679361
5	HNRNPC	hsa-miR-142-3p	chr14:21678567-21678589
6	HNRNPC	hsa-miR-30c-5p	chr14:21678673-21678667
7	HNRNPC	hsa-miR-186-5p	chr14:21679046-21679067
8	HNRNPC	hsa-miR-142-3p	chr14:21678022-21678046
9	HNRNPC	hsa-miR-335-5p	chr14:21679069-21679091
10	HNRNPC	hsa-miR-335-5p	chr14:21678975-21678999

Variant related genes	Relation type
LINC00641	TF binding region
HNRNPC	TF binding region
LINC00641	CpG island
HNRNPC	CpG island
ENSG00000092199	chromatin interactions
ENSG00000034510	chromatin interactions
ENSG00000165795	chromatin interactions
ENSG00000260830	chromatin interactions
ENSG00000258441	chromatin interactions
ENSG00000092201	chromatin interactions
RUNX2	miRNA target sites
MTA2	miRNA target sites
STK4	miRNA target sites

Extended variants
information (count: 2180 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2180 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189523872	chr14:21659373-21659374	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs553153610	chr14:21659401-21659402	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs376146886	chr14:21659411-21659412	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs7154382	chr14:21659421-21659422	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148360923	chr14:21659434-21659435	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531404061	chr14:21659464-21659465	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs560742229	chr14:21659481-21659482	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs181792101	chr14:21659483-21659484	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561850573	chr14:21659530-21659531	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs76043576	chr14:21659548-21659549	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547509459	chr14:21659551-21659552	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186270266	chr14:21659654-21659655	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs539985501	chr14:21659710-21659711	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs550301528	chr14:21659771-21659772	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs2094225	chr14:21659797-21659798	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374702492	chr14:21659895-21659896	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs114760021	chr14:21659929-21659930	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs556001095	chr14:21659991-21659992	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs146379460	chr14:21660024-21660025	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs202195921	chr14:21660035-21660036	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs549648309	chr14:21660036-21660037	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188778562	chr14:21660038-21660039	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs576525158	chr14:21660056-21660057	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532242277	chr14:21660082-21660083	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs144184045	chr14:21660132-21660133	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs562251349	chr14:21660140-21660141	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs554421040	chr14:21660165-21660166	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs575796793	chr14:21660257-21660258	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs386775385	chr14:21660355-21660356	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs541680667	chr14:21660375-21660376	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs561993401	chr14:21660376-21660377	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs150623793	chr14:21660419-21660420	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs573581229	chr14:21660450-21660451	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs564277893	chr14:21660482-21660483	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs557499223	chr14:21660502-21660503	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs74037738	chr14:21660563-21660564	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs149810546	chr14:21660572-21660573	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs145560918	chr14:21660577-21660578	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs148444983	chr14:21660642-21660643	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs536039347	chr14:21660657-21660658	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs115207753	chr14:21660758-21660759	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs145238272	chr14:21660848-21660849	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs368153287	chr14:21660849-21660850	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs535050752	chr14:21660854-21660855	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs558429713	chr14:21660932-21660933	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs181513689	chr14:21660939-21660940	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539060667	chr14:21660957-21660958	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs147633948	chr14:21660959-21660960	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs575759604	chr14:21660979-21660980	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs541992376	chr14:21660981-21660982	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Autism	22495311	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ewing''s sarcoma	18628472	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1862 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21651200-21659600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:21654200-21659400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:21654200-21659400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:21654800-21659400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:21656200-21660000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:21656400-21660000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:21656800-21659600	Weak transcription	Lung	lung
8	chr14:21659200-21659400	Enhancers	Dnd41	blood
9	chr14:21659200-21659400	Enhancers	HepG2	liver
10	chr14:21659200-21659600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr14:21659200-21659800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr14:21659200-21659800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:21659200-21660000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr14:21659200-21660000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:21659200-21660000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr14:21659200-21660000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr14:21659200-21660200	Enhancers	Fetal Thymus	thymus
18	chr14:21659400-21659600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:21659400-21659600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr14:21659400-21659600	Enhancers	Hela-S3	cervix
21	chr14:21659400-21659800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:21659400-21659800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr14:21659400-21659800	Enhancers	Primary T cells from cord blood	blood
24	chr14:21659400-21659800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr14:21659400-21659800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:21659400-21659800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:21659400-21659800	Enhancers	Brain Angular Gyrus	brain
28	chr14:21659400-21659800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr14:21659400-21659800	Enhancers	K562	blood
30	chr14:21659400-21660000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr14:21659400-21660000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:21659400-21660000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:21659400-21660000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr14:21659400-21660000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:21659400-21660000	Enhancers	Primary B cells from peripheral blood	blood
36	chr14:21659400-21660000	Enhancers	Primary hematopoietic stem cells	blood
37	chr14:21659400-21660000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:21659400-21660000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:21659400-21660000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr14:21659400-21660000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr14:21659400-21660000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:21659400-21660000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:21659400-21660000	Enhancers	Stomach Smooth Muscle	stomach
44	chr14:21659400-21660000	Flanking Active TSS	HepG2	liver
45	chr14:21659400-21660200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:21659400-21660400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:21659400-21660400	Active TSS	Brain Anterior Caudate	brain
48	chr14:21659400-21661000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr14:21659400-21661000	Flanking Active TSS	Dnd41	blood
50	chr14:21659600-21659800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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