Variant report

Variant	nsv593778
Chromosome Location	chr4:16227851-16233787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:16230039-16230251	K562	blood:	n/a	n/a
2	ARID3A	chr4:16233262-16233723	K562	blood:	n/a	n/a
3	ATF1	chr4:16228090-16228399	K562	blood:	n/a	chr4:16228224-16228238
4	ATF3	chr4:16228128-16228317	HepG2	liver:	n/a	chr4:16228228-16228238
5	ATF3	chr4:16228068-16228394	K562	blood:	n/a	chr4:16228228-16228238
6	BACH1	chr4:16233261-16233515	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr4:16228815-16228945	K562	blood:	n/a	chr4:16228815-16228831
8	BHLHE40	chr4:16227939-16228356	K562	blood:	n/a	n/a
9	BHLHE40	chr4:16228156-16228409	GM12878	blood:	n/a	n/a
10	BRCA1	chr4:16228685-16228864	Hela-S3	cervix:	n/a	n/a
11	CCNT2	chr4:16227278-16229113	K562	blood:	n/a	chr4:16227795-16227804 chr4:16228813-16228822 chr4:16228154-16228163
12	CEBPB	chr4:16231287-16231559	H1-hESC	embryonic stem cell:	n/a	chr4:16231420-16231431 chr4:16231420-16231433 chr4:16231422-16231431 chr4:16231422-16231431 chr4:16231422-16231431 chr4:16231356-16231367 chr4:16231354-16231367
13	CEBPB	chr4:16228680-16228981	Hela-S3	cervix:	n/a	chr4:16228866-16228878
14	CEBPB	chr4:16231302-16231579	Hela-S3	cervix:	n/a	chr4:16231420-16231431 chr4:16231420-16231433 chr4:16231422-16231431 chr4:16231422-16231431 chr4:16231422-16231431 chr4:16231356-16231367 chr4:16231354-16231367
15	CEBPB	chr4:16227469-16228056	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr4:16231225-16231606	K562	blood:	n/a	chr4:16231420-16231431 chr4:16231420-16231433 chr4:16231422-16231431 chr4:16231422-16231431 chr4:16231422-16231431 chr4:16231356-16231367 chr4:16231354-16231367
17	CEBPB	chr4:16231235-16231605	IMR90	lung:	n/a	chr4:16231420-16231431 chr4:16231420-16231433 chr4:16231422-16231431 chr4:16231422-16231431 chr4:16231422-16231431 chr4:16231356-16231367 chr4:16231354-16231367
18	CEBPB	chr4:16231245-16231592	HepG2	liver:	n/a	chr4:16231420-16231431 chr4:16231420-16231433 chr4:16231422-16231431 chr4:16231422-16231431 chr4:16231422-16231431 chr4:16231356-16231367 chr4:16231354-16231367
19	CEBPB	chr4:16231254-16231592	A549	lung:	n/a	chr4:16231420-16231431 chr4:16231420-16231433 chr4:16231422-16231431 chr4:16231422-16231431 chr4:16231422-16231431 chr4:16231356-16231367 chr4:16231354-16231367
20	CEBPD	chr4:16228183-16228571	HepG2	liver:	n/a	n/a
21	CHD1	chr4:16229420-16229538	GM12878	blood:	n/a	n/a
22	CHD1	chr4:16228347-16228624	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr4:16227900-16229043	GM12878	blood:	n/a	chr4:16228147-16228157 chr4:16228152-16228162
24	CHD1	chr4:16228876-16228963	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr4:16228838-16229221	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr4:16227751-16227906	GM12878	blood:	n/a	n/a
27	CHD2	chr4:16228679-16228806	GM12878	blood:	n/a	n/a
28	CHD2	chr4:16228217-16228364	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr4:16228211-16228411	GM12878	blood:	n/a	n/a
30	CHD2	chr4:16228735-16228752	K562	blood:	n/a	n/a
31	CREB1	chr4:16227904-16228545	GM12878	blood:	n/a	n/a
32	CREB1	chr4:16227983-16228525	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr4:16227828-16228594	HepG2	liver:	n/a	n/a
34	CREB1	chr4:16227972-16228511	K562	blood:	n/a	n/a
35	CREB1	chr4:16227956-16228467	HepG2	liver:	n/a	n/a
36	CREB1	chr4:16228026-16228388	ECC-1	luminal epithelium:	n/a	n/a
37	CREB1	chr4:16228140-16228339	ECC-1	luminal epithelium:	n/a	n/a
38	CREB1	chr4:16227973-16228511	GM12878	blood:	n/a	n/a
39	CREB1	chr4:16228015-16228541	A549	lung:	n/a	n/a
40	CREB1	chr4:16227920-16228543	K562	blood:	n/a	n/a
41	CREB1	chr4:16227976-16228470	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr4:16228147-16228410	A549	lung:	n/a	n/a
43	CTCF	chr4:16228942-16229016	GM19239	blood:	n/a	n/a
44	CTCF	chr4:16227720-16227870	GM12874	blood:	n/a	n/a
45	CUX1	chr4:16229703-16229842	K562	blood:	n/a	n/a
46	E2F4	chr4:16231216-16231419	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr4:16228736-16228936	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F6	chr4:16228010-16228516	K562	blood:	n/a	chr4:16228102-16228111
49	E2F6	chr4:16228145-16228311	K562	blood:	n/a	n/a
50	E2F6	chr4:16227576-16228466	K562	blood:	n/a	chr4:16228102-16228111 chr4:16227816-16227825

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:16228062-16228112	BJ	skin:	n/a
2	chr4:16228633-16228683	HCT-116	colon:	n/a
3	chr4:16228062-16228112	BJ	skin:	n/a
4	chr4:16228633-16228683	HCT-116	colon:	n/a
5	chr4:16228885-16228935	ECC-1	luminal epithelium:	n/a
6	chr4:16227813-16227863	NHDF-neo	bronchial:	n/a
7	chr4:16228885-16228935	GM12891	blood:	n/a
8	chr4:16229123-16229173	SK-N-SH_RA	brain:	n/a
9	chr4:16227813-16227863	HCPEpiC	choroid plexus:	n/a
10	chr4:16232771-16232821	CMK	blood:	n/a
11	chr4:16228647-16228697	IMR90	lung:	fetal
12	chr4:16229123-16229173	GM12878	blood:	n/a
13	chr4:16232771-16232821	Hepatocyte	liver:	n/a
14	chr4:16228633-16228683	AG04450	lung:	fetal
15	chr4:16232771-16232821	HMEC	breast:	n/a
16	chr4:16228885-16228935	SKMC	muscle:	n/a
17	chr4:16227813-16227863	Hela-S3	cervix:	n/a
18	chr4:16228885-16228935	IMR90	lung:	fetal
19	chr4:16228885-16228935	T-47D	breast:	n/a
20	chr4:16232771-16232821	HRE	kidney:	n/a
21	chr4:16228062-16228112	BE2_C	brain:	n/a
22	chr4:16229123-16229173	Hela-S3	cervix:	n/a
23	chr4:16228647-16228697	PrEC	prostate:	n/a
24	chr4:16229123-16229173	HUVEC	blood vessel:	n/a
25	chr4:16229123-16229173	HPAEpiC	pulmonary alveolar:	n/a
26	chr4:16227813-16227863	ECC-1	luminal epithelium:	n/a
27	chr4:16229123-16229173	AG04450	lung:	fetal
28	chr4:16228885-16228935	HIPEpiC	eye:	n/a
29	chr4:16228633-16228683	AG09319	gingival:	n/a
30	chr4:16228647-16228697	HEK293	kidney:	embryo
31	chr4:16228062-16228112	HCM	heart:	n/a
32	chr4:16228633-16228683	HEK293	kidney:	embryo
33	chr4:16229123-16229173	ProgFib	skin:	n/a
34	chr4:16228062-16228112	HRPEpiC	eye:	n/a
35	chr4:16228633-16228683	ovcar-3	ovarian:	n/a
36	chr4:16230109-16230159	HEEpiC	esophagus:	n/a
37	chr4:16228633-16228683	SKMC	muscle:	n/a
38	chr4:16228885-16228935	HEK293	kidney:	embryo
39	chr4:16228647-16228697	ECC-1	luminal epithelium:	n/a
40	chr4:16227813-16227863	PFSK-1	brain:	n/a
41	chr4:16228647-16228697	AoSMC	blood vessel:	n/a
42	chr4:16228647-16228697	BJ	skin:	n/a
43	chr4:16228647-16228697	SK-N-MC	brain:	n/a
44	chr4:16230109-16230159	U87	brain:	n/a
45	chr4:16228647-16228697	NH-A	brain:	n/a
46	chr4:16228633-16228683	ECC-1	luminal epithelium:	n/a
47	chr4:16230109-16230159	CMK	blood:	n/a
48	chr4:16228647-16228697	HNPCEpiC	eye:	n/a
49	chr4:16228885-16228935	AG04450	lung:	fetal
50	chr4:16227813-16227863	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:59476916..59479068-chr4:16227271..16228837,2	MCF-7	breast:
2	chr4:16230488..16232179-chr4:16234227..16236390,2	MCF-7	breast:
3	chr4:16227416..16229454-chr4:16230827..16235422,5	MCF-7	breast:
4	chr4:16216932..16218804-chr4:16227245..16229857,2	MCF-7	breast:
5	chr4:16227890..16229761-chr4:17577650..17579806,2	MCF-7	breast:
6	chr4:16215439..16216101-chr4:16232860..16233690,2	K562	blood:
7	chr4:16212529..16219737-chr4:16225844..16229602,8	MCF-7	breast:
8	chr4:16233218..16235689-chr4:16242386..16245204,2	MCF-7	breast:
9	chr4:15002785..15006911-chr4:16226901..16230678,5	K562	blood:
10	chr21:33104183..33104701-chr4:16227636..16228281,2	Hela-S3	cervix:
11	chr4:15681714..15684664-chr4:16226494..16229781,3	K562	blood:
12	chr4:16230982..16233844-chr4:16235259..16238422,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD38-2	chr4:16228286-16228800	NONHSAT095674
2	lnc-CD38-2	chr4:16228308-16228800	ENSG00000263327.1
3	lnc-CD38-2	chr4:16228286-16228800	ENSG00000225917
4	lnc-CD38-2	chr4:16228630-16228800	ENSG00000263327.1
5	lnc-CD38-2	chr4:16228668-16228800	ENSG00000263327.1
6	lnc-CD38-2	chr4:16228286-16230207	ENSG00000263327.2

Variant related genes	Relation type
TAPT1-AS1	TF binding region
TAPT1	TF binding region
TAPT1-AS1	CpG island
TAPT1	CpG island
ENSG00000118564	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000002549	chromatin interactions
ENSG00000247624	chromatin interactions
ENSG00000237765	chromatin interactions
ENSG00000169762	chromatin interactions
ENSG00000137449	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000156304	chromatin interactions
ENSG00000263327	chromatin interactions
ENSG00000267131	chromatin interactions
PDGFRA	miRNA target sites

Extended variants
information (count: 207 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567614266	chr4:16227872-16227873	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs28384238	chr4:16227944-16227945	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs551534255	chr4:16228176-16228177	Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs557457554	chr4:16228189-16228190	Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs577006870	chr4:16228208-16228209	Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs12643453	chr4:16228250-16228251	Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs554214258	chr4:16228269-16228270	Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs553344607	chr4:16228315-16228316	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
9	rs573491053	chr4:16228443-16228444	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
10	rs111495845	chr4:16228499-16228500	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
11	rs13136055	chr4:16228538-16228539	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs372448514	chr4:16228630-16228631	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
13	rs551357535	chr4:16228631-16228632	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
14	rs562063159	chr4:16228637-16228638	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
15	rs147360928	chr4:16228641-16228642	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
16	rs544704087	chr4:16228737-16228738	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
17	rs564588693	chr4:16228744-16228745	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
18	rs532953152	chr4:16228764-16228765	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
19	rs546775101	chr4:16228856-16228857	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs560144831	chr4:16228864-16228865	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs529175843	chr4:16228883-16228884	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs548911730	chr4:16228938-16228939	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
23	rs141002726	chr4:16228957-16228958	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
24	rs537481119	chr4:16228967-16228968	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
25	rs144974565	chr4:16228990-16228991	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
26	rs571014632	chr4:16228993-16228994	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
27	rs539605676	chr4:16228999-16229000	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs527678345	chr4:16229018-16229019	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs74656177	chr4:16229020-16229021	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
30	rs536128253	chr4:16229050-16229051	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
31	rs556131194	chr4:16229060-16229061	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs373330548	chr4:16229072-16229073	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs544636688	chr4:16229078-16229079	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
34	rs186629605	chr4:16229105-16229106	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
35	rs370865145	chr4:16229108-16229109	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
36	rs191435247	chr4:16229140-16229141	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
37	rs540410429	chr4:16229151-16229152	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
38	rs560291820	chr4:16229224-16229225	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
39	rs529104670	chr4:16229233-16229234	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
40	rs75374832	chr4:16229242-16229243	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
41	rs56145213	chr4:16229244-16229245	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
42	rs542496117	chr4:16229285-16229286	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
43	rs547860284	chr4:16229308-16229309	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
44	rs185442209	chr4:16229410-16229411	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
45	rs189116209	chr4:16229424-16229425	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
46	rs555053445	chr4:16229548-16229549	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
47	rs550972154	chr4:16229550-16229551	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
48	rs571196560	chr4:16229566-16229567	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
49	rs527377223	chr4:16229620-16229621	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
50	rs558310761	chr4:16229666-16229667	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16225600-16230800	Active TSS	A549	lung
2	chr4:16225800-16230000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:16226200-16229600	Active TSS	Right Atrium	heart
4	chr4:16226400-16228400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:16226400-16228800	Active TSS	Primary T cells fromperipheralblood	blood
6	chr4:16226400-16228800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:16226400-16228800	Active TSS	Fetal Thymus	thymus
8	chr4:16226400-16228800	Active TSS	Thymus	Thymus
9	chr4:16226400-16229000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr4:16226400-16229200	Active TSS	Fetal Stomach	stomach
11	chr4:16226400-16229400	Active TSS	Aorta	Aorta
12	chr4:16226400-16229400	Active TSS	HepG2	liver
13	chr4:16226400-16229600	Active TSS	Left Ventricle	heart
14	chr4:16226400-16229600	Active TSS	Psoas Muscle	Psoas
15	chr4:16226400-16229800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:16226400-16229800	Active TSS	Right Ventricle	heart
17	chr4:16226400-16229800	Active TSS	Stomach Smooth Muscle	stomach
18	chr4:16226400-16230600	Active TSS	GM12878-XiMat	blood
19	chr4:16226600-16228600	Active TSS	Fetal Muscle Leg	muscle
20	chr4:16226600-16228800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr4:16226600-16228800	Active TSS	NH-A	brain
22	chr4:16226600-16229000	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr4:16226600-16229200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:16226600-16229200	Active TSS	Fetal Intestine Small	intestine
25	chr4:16226600-16229400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:16226600-16229400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr4:16226600-16229400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:16226600-16229400	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr4:16226600-16229600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:16226600-16229600	Active TSS	HMEC	breast
31	chr4:16226600-16229800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr4:16226600-16229800	Active TSS	NHDF-Ad	bronchial
33	chr4:16226600-16230000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr4:16226600-16230800	Active TSS	K562	blood
35	chr4:16226800-16228600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:16226800-16228800	Active TSS	Fetal Muscle Trunk	muscle
37	chr4:16226800-16229000	Active TSS	HSMM	muscle
38	chr4:16226800-16229200	Active TSS	NHLF	lung
39	chr4:16226800-16229400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:16226800-16229400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:16226800-16229600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr4:16226800-16229600	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr4:16226800-16229600	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr4:16226800-16229600	Active TSS	Ovary	ovary
45	chr4:16226800-16229800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr4:16226800-16230000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:16226800-16230600	Active TSS	Brain Anterior Caudate	brain
48	chr4:16227000-16228800	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr4:16227000-16228800	Active TSS	Dnd41	blood
50	chr4:16227000-16229000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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