Variant report

Variant	esv3340336
Chromosome Location	chr4:129730252-129734500
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	chr4:129730583-129731709	HepG2	liver:	n/a	chr4:129731284-129731292
2	ARID3A	chr4:129733056-129733419	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:129730637-129731577	K562	blood:	n/a	chr4:129731284-129731292
4	ARID3A	chr4:129732038-129732519	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:129733069-129733140	K562	blood:	n/a	n/a
6	ATF2	chr4:129733630-129734051	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr4:129731890-129732722	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr4:129731156-129731606	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr4:129732826-129733531	GM12878	blood:	n/a	n/a
10	ATF2	chr4:129730484-129731078	GM12878	blood:	n/a	n/a
11	ATF2	chr4:129733247-129733506	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr4:129731119-129731494	GM12878	blood:	n/a	n/a
13	ATF2	chr4:129733538-129734069	GM12878	blood:	n/a	n/a
14	ATF2	chr4:129732015-129732582	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr4:129730540-129730947	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr4:129731142-129731783	GM12878	blood:	n/a	n/a
17	ATF2	chr4:129730629-129730989	GM12878	blood:	n/a	n/a
18	ATF2	chr4:129731612-129731877	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr4:129731939-129732672	GM12878	blood:	n/a	n/a
20	ATF2	chr4:129730571-129730942	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr4:129731986-129732799	GM12878	blood:	n/a	n/a
22	ATF3	chr4:129731971-129732548	A549	lung:	n/a	n/a
23	ATF3	chr4:129733184-129733642	K562	blood:	n/a	n/a
24	ATF3	chr4:129730573-129731062	A549	lung:	n/a	n/a
25	ATF3	chr4:129733139-129733559	A549	lung:	n/a	chr4:129733161-129733170
26	ATF3	chr4:129732434-129732753	K562	blood:	n/a	chr4:129732709-129732718
27	ATF3	chr4:129730645-129730969	A549	lung:	n/a	n/a
28	ATF3	chr4:129733262-129733590	K562	blood:	n/a	n/a
29	BACH1	chr4:129732144-129732643	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr4:129732523-129732530	K562	blood:	n/a	n/a
31	BACH1	chr4:129730606-129731283	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr4:129733297-129733987	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr4:129730742-129731433	K562	blood:	n/a	n/a
34	BATF	chr4:129730671-129730972	GM12878	blood:	n/a	n/a
35	BCL3	chr4:129731993-129732540	A549	lung:	n/a	chr4:129732460-129732469 chr4:129732455-129732468 chr4:129732394-129732407
36	BCL3	chr4:129731914-129732648	A549	lung:	n/a	chr4:129732577-129732586 chr4:129732615-129732624 chr4:129732460-129732469 chr4:129732455-129732468 chr4:129732394-129732407
37	BCL3	chr4:129732289-129732724	GM12878	blood:	n/a	chr4:129732577-129732586 chr4:129732615-129732624 chr4:129732460-129732469 chr4:129732455-129732468 chr4:129732394-129732407
38	BCL3	chr4:129730655-129731114	GM12878	blood:	n/a	chr4:129730676-129730689 chr4:129730683-129730696
39	BCL3	chr4:129732902-129733793	GM12878	blood:	n/a	chr4:129733533-129733546 chr4:129733312-129733321 chr4:129733307-129733320 chr4:129733567-129733576 chr4:129733308-129733321 chr4:129733072-129733085 chr4:129733273-129733282 chr4:129732929-129732942 chr4:129733780-129733793 chr4:129733067-129733080 chr4:129733023-129733036 chr4:129732957-129732970 chr4:129733035-129733048 chr4:129733309-129733318 chr4:129733558-129733571 chr4:129733565-129733578 chr4:129733029-129733042 chr4:129733250-129733259 chr4:129733276-129733285
40	BCL3	chr4:129733129-129733533	A549	lung:	n/a	chr4:129733312-129733321 chr4:129733307-129733320 chr4:129733308-129733321 chr4:129733273-129733282 chr4:129733309-129733318 chr4:129733250-129733259 chr4:129733276-129733285
41	BCL3	chr4:129730470-129730962	A549	lung:	n/a	chr4:129730676-129730689 chr4:129730683-129730696
42	BCL3	chr4:129730461-129730961	A549	lung:	n/a	chr4:129730676-129730689 chr4:129730683-129730696
43	BCLAF1	chr4:129730435-129731089	K562	blood:	n/a	chr4:129730676-129730689 chr4:129730683-129730696
44	BCLAF1	chr4:129732040-129732745	GM12878	blood:	n/a	chr4:129732712-129732725 chr4:129732577-129732586 chr4:129732615-129732624 chr4:129732460-129732469 chr4:129732455-129732468 chr4:129732394-129732407
45	BCLAF1	chr4:129730491-129731283	GM12878	blood:	n/a	chr4:129730676-129730689 chr4:129730683-129730696
46	BCLAF1	chr4:129731561-129734060	GM12878	blood:	n/a	chr4:129733533-129733546 chr4:129732712-129732725 chr4:129733312-129733321 chr4:129733307-129733320 chr4:129732577-129732586 chr4:129733567-129733576 chr4:129733308-129733321 chr4:129733072-129733085 chr4:129733273-129733282 chr4:129732615-129732624 chr4:129732460-129732469 chr4:129732929-129732942 chr4:129733780-129733793 chr4:129733067-129733080 chr4:129733023-129733036 chr4:129732741-129732754 chr4:129732957-129732970 chr4:129733035-129733048 chr4:129733309-129733318 chr4:129732455-129732468 chr4:129732394-129732407 chr4:129733558-129733571 chr4:129733565-129733578 chr4:129733029-129733042 chr4:129733250-129733259 chr4:129733276-129733285
47	BCLAF1	chr4:129731925-129732712	K562	blood:	n/a	chr4:129732577-129732586 chr4:129732615-129732624 chr4:129732460-129732469 chr4:129732455-129732468 chr4:129732394-129732407
48	BCLAF1	chr4:129732798-129733658	GM12878	blood:	n/a	chr4:129733533-129733546 chr4:129733312-129733321 chr4:129733307-129733320 chr4:129733567-129733576 chr4:129733308-129733321 chr4:129733072-129733085 chr4:129733273-129733282 chr4:129732929-129732942 chr4:129733067-129733080 chr4:129733023-129733036 chr4:129732957-129732970 chr4:129733035-129733048 chr4:129733309-129733318 chr4:129733558-129733571 chr4:129733565-129733578 chr4:129733029-129733042 chr4:129733250-129733259 chr4:129733276-129733285
49	BCLAF1	chr4:129732857-129733847	K562	blood:	n/a	chr4:129733533-129733546 chr4:129733312-129733321 chr4:129733307-129733320 chr4:129733567-129733576 chr4:129733308-129733321 chr4:129733072-129733085 chr4:129733273-129733282 chr4:129732929-129732942 chr4:129733780-129733793 chr4:129733067-129733080 chr4:129733023-129733036 chr4:129732957-129732970 chr4:129733035-129733048 chr4:129733309-129733318 chr4:129733558-129733571 chr4:129733565-129733578 chr4:129733029-129733042 chr4:129733250-129733259 chr4:129733276-129733285
50	BCLAF1	chr4:129730527-129731076	GM12878	blood:	n/a	chr4:129730676-129730689 chr4:129730683-129730696

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:129733571-129733621	GM19239	blood:	n/a
2	chr4:129732056-129732106	HRE	kidney:	n/a
3	chr4:129733571-129733621	GM19239	blood:	n/a
4	chr4:129732056-129732106	HRE	kidney:	n/a
5	chr4:129731335-129731385	Caco-2	colon:	n/a
6	chr4:129731335-129731385	IMR90	lung:	fetal
7	chr4:129731315-129731365	HCF	heart:	n/a
8	chr4:129733057-129733107	HL-60	blood:	n/a
9	chr4:129731315-129731365	BJ	skin:	n/a
10	chr4:129733571-129733621	HRPEpiC	eye:	n/a
11	chr4:129731973-129732023	ProgFib	skin:	n/a
12	chr4:129732056-129732106	HEEpiC	esophagus:	n/a
13	chr4:129731315-129731365	RPTEC	kidney:	n/a
14	chr4:129730778-129730828	K562	blood:	n/a
15	chr4:129730719-129730769	ProgFib	skin:	n/a
16	chr4:129730778-129730828	BE2_C	brain:	n/a
17	chr4:129733028-129733078	IMR90	lung:	fetal
18	chr4:129731156-129731206	HCM	heart:	n/a
19	chr4:129731156-129731206	HCF	heart:	n/a
20	chr4:129732056-129732106	AG04449	skin:	fetal
21	chr4:129731156-129731206	HEEpiC	esophagus:	n/a
22	chr4:129732568-129732618	HEK293	kidney:	embryo
23	chr4:129733887-129733937	SKMC	muscle:	n/a
24	chr4:129730729-129730779	Jurkat	blood:	n/a
25	chr4:129730732-129730782	MCF-7	breast:	n/a
26	chr4:129731973-129732023	SKMC	muscle:	n/a
27	chr4:129731335-129731385	NHDF-neo	bronchial:	n/a
28	chr4:129730778-129730828	HCPEpiC	choroid plexus:	n/a
29	chr4:129730719-129730769	HEK293	kidney:	embryo
30	chr4:129730670-129730720	HL-60	blood:	n/a
31	chr4:129731156-129731206	BJ	skin:	n/a
32	chr4:129733571-129733621	SAEC	small airway:	n/a
33	chr4:129732568-129732618	NB4	blood:	n/a
34	chr4:129733057-129733107	NH-A	brain:	n/a
35	chr4:129732056-129732106	GM19239	blood:	n/a
36	chr4:129731973-129732023	Hela-S3	cervix:	n/a
37	chr4:129730872-129730922	ECC-1	luminal epithelium:	n/a
38	chr4:129730719-129730769	SK-N-SH	brain:	n/a
39	chr4:129731835-129731885	HNPCEpiC	eye:	n/a
40	chr4:129731156-129731206	H1-hESC	embryonic stem cell:	embryo
41	chr4:129731335-129731385	HAEpiC	amniotic membrane:	n/a
42	chr4:129732056-129732106	HUVEC	blood vessel:	n/a
43	chr4:129730872-129730922	U87	brain:	n/a
44	chr4:129731335-129731385	GM12878	blood:	n/a
45	chr4:129730872-129730922	CMK	blood:	n/a
46	chr4:129730729-129730779	AG10803	skin:	n/a
47	chr4:129731315-129731365	GM12891	blood:	n/a
48	chr4:129730670-129730720	H1-hESC	embryonic stem cell:	embryo
49	chr4:129733028-129733078	PrEC	prostate:	n/a
50	chr4:129731973-129732023	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:129209335..129213237-chr4:129730288..129733311,3	K562	blood:
2	chr4:129348880..129349601-chr4:129730054..129731203,4	MCF-7	breast:
3	chr4:129730646..129731365-chr6:31939370..31940250,2	Hela-S3	cervix:
4	chr4:129732508..129734701-chr9:131037759..131039392,2	K562	blood:
5	chr4:129521846..129523851-chr4:129730837..129734105,3	K562	blood:
6	chr4:129471355..129474956-chr4:129730853..129734024,4	MCF-7	breast:
7	chr4:129730688..129731418-chr6:24720530..24721134,2	Hela-S3	cervix:
8	chr4:129376233..129378209-chr4:129732417..129734639,2	MCF-7	breast:
9	chr4:129295705..129298483-chr4:129733178..129734813,2	K562	blood:
10	chr4:129730340..129733748-chr4:130013373..130016609,5	K562	blood:
11	chr4:100869660..100871292-chr4:129732222..129733752,2	K562	blood:
12	chr17:41465708..41466487-chr4:129732407..129733255,2	Hela-S3	cervix:
13	chr4:129472659..129478043-chr4:129729703..129733779,4	K562	blood:
14	chr4:129206178..129209105-chr4:129728853..129732712,4	K562	blood:
15	chr4:129376012..129378140-chr4:129729596..129731686,2	K562	blood:
16	chr4:129732800..129733514-chr7:44835890..44836515,2	Hela-S3	cervix:
17	chr4:128980795..128984031-chr4:129730059..129735028,7	K562	blood:
18	chr4:129374742..129377081-chr4:129732245..129734297,2	K562	blood:
19	chr4:128981555..128983886-chr4:129733528..129735785,3	K562	blood:
20	chr4:129731839..129732721-chr6:4021268..4022047,2	Hela-S3	cervix:
21	chr4:129391462..129394361-chr4:129730843..129732581,2	K562	blood:
22	chr4:129658670..129660547-chr4:129733164..129735404,2	K562	blood:
23	chr4:129518963..129527383-chr4:129727996..129735335,14	K562	blood:
24	chr4:129374782..129377512-chr4:129729521..129732215,3	K562	blood:
25	chr4:129489796..129491708-chr4:129731783..129734421,2	K562	blood:
26	chr4:129375160..129378617-chr4:129730147..129733611,3	MCF-7	breast:
27	chr4:129730547..129732304-chr4:129732580..129735331,2	MCF-7	breast:
28	chr4:129733346..129735298-chr4:129750258..129752635,2	MCF-7	breast:
29	chr4:129207558..129209105-chr4:129728853..129730896,2	K562	blood:
30	chr4:129733589..129734125-chr6:33267187..33267913,2	Hela-S3	cervix:
31	chr4:129731326..129732115-chr6:26158771..26159658,2	Hela-S3	cervix:
32	chr1:228352349..228353216-chr4:129731096..129731690,2	Hela-S3	cervix:
33	chr3:73160089..73160613-chr4:129732630..129733505,2	Hela-S3	cervix:
34	chr4:120987081..120989411-chr4:129732197..129734433,2	K562	blood:
35	chr4:129212724..129215636-chr4:129733775..129736025,2	K562	blood:
36	chr11:62608655..62609419-chr4:129731014..129731869,3	Hela-S3	cervix:
37	chr4:129731357..129734214-chr4:129752200..129753715,2	K562	blood:
38	chr4:129472709..129474756-chr4:129728389..129731319,2	MCF-7	breast:
39	chr3:51421956..51422564-chr4:129732676..129733360,2	Hela-S3	cervix:
40	chr4:129730547..129732304-chr4:129732580..129735331,2	MCF-7	breast:
41	chr4:128980795..128982891-chr4:129730267..129732892,3	K562	blood:
42	chr4:129488526..129491708-chr4:129730813..129734421,3	K562	blood:
43	chr16:402353..402985-chr4:129731353..129732296,2	Hela-S3	cervix:
44	chr4:129208294..129210116-chr4:129731375..129734707,3	MCF-7	breast:
45	chr4:129732986..129733867-chr8:87354568..87355416,2	Hela-S3	cervix:
46	chr4:129491375..129494260-chr4:129730648..129733095,2	MCF-7	breast:
47	chr4:129473168..129475213-chr4:129730479..129732295,2	K562	blood:
48	chr4:129206178..129209498-chr4:129731212..129733921,5	K562	blood:
49	chr10:129923861..129924531-chr4:129733097..129733634,2	Hela-S3	cervix:

Variant related genes	Relation type
JADE1	TF binding region
JADE1	CpG island
ENSG00000245322	chromatin interactions
ENSG00000123124	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000204344	chromatin interactions
ENSG00000138709	chromatin interactions
ENSG00000248187	chromatin interactions
ENSG00000203684	chromatin interactions
ENSG00000164040	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000151466	chromatin interactions
ENSG00000112739	chromatin interactions
ENSG00000251432	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000175854	chromatin interactions
ENSG00000230648	chromatin interactions
ENSG00000077684	chromatin interactions
ENSG00000167110	chromatin interactions
ENSG00000145050	chromatin interactions
ENSG00000273077	chromatin interactions
ENSG00000148773	chromatin interactions
ENSG00000250938	chromatin interactions
ENSG00000103126	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000204348	chromatin interactions
ENSG00000248802	chromatin interactions
ENSG00000112308	chromatin interactions
ENSG00000164109	chromatin interactions
ENSG00000151470	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77797058	chr4:129730282-129730283	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs549931927	chr4:129730289-129730290	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs542340125	chr4:129730331-129730332	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs111683786	chr4:129730348-129730349	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs371263831	chr4:129730363-129730364	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs570013476	chr4:129730390-129730391	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs141779738	chr4:129730436-129730437	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs375974982	chr4:129730452-129730453	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs559003412	chr4:129730460-129730461	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs77155870	chr4:129730492-129730493	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs536629082	chr4:129730517-129730518	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs550482789	chr4:129730530-129730531	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs374616199	chr4:129730566-129730567	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs368955241	chr4:129730567-129730568	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs33947398	chr4:129730568-129730569	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs10666009	chr4:129730570-129730571	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs202213684	chr4:129730571-129730572	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs568548904	chr4:129730582-129730583	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs529489361	chr4:129730660-129730661	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs535238833	chr4:129730674-129730675	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs565405613	chr4:129730692-129730693	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs539170738	chr4:129730695-129730696	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs557311681	chr4:129730716-129730717	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs144598490	chr4:129730735-129730736	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs367964983	chr4:129730787-129730788	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs555681733	chr4:129730807-129730808	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs148493982	chr4:129730835-129730836	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs575231664	chr4:129730935-129730936	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs541186331	chr4:129730964-129730965	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs553218342	chr4:129730977-129730978	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs572544340	chr4:129730982-129730983	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs530427986	chr4:129731081-129731082	Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs546345807	chr4:129731090-129731091	Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs375706499	chr4:129731138-129731139	Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs564306413	chr4:129731155-129731156	Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs372142484	chr4:129731173-129731174	Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs182353259	chr4:129731223-129731224	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs376892558	chr4:129731296-129731297	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs544106935	chr4:129731342-129731343	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs562368760	chr4:129731379-129731380	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs555734608	chr4:129731392-129731393	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs547559769	chr4:129731419-129731420	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs565963190	chr4:129731436-129731437	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs532848957	chr4:129731445-129731446	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs199693964	chr4:129731462-129731463	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs187873475	chr4:129731498-129731499	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs569548083	chr4:129731570-129731571	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs531071438	chr4:129731606-129731607	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs556716526	chr4:129731615-129731616	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs397880705	chr4:129731629-129731630	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD

Chromatin state (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129723600-129730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:129724800-129730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:129725000-129730400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:129725200-129730400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:129725400-129730400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:129725400-129730400	Weak transcription	Stomach Mucosa	stomach
7	chr4:129725600-129730400	Weak transcription	Fetal Intestine Small	intestine
8	chr4:129726200-129730400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:129726200-129730400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:129726200-129730800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:129726200-129731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:129726400-129730400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:129726800-129730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:129727200-129730400	Enhancers	Fetal Heart	heart
15	chr4:129727400-129730400	Weak transcription	Placenta	Placenta
16	chr4:129727400-129730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:129729800-129730400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:129730000-129730400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr4:129730000-129730400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:129730000-129730400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr4:129730000-129730400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr4:129730000-129730400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:129730000-129730400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:129730000-129730400	Enhancers	Colon Smooth Muscle	Colon
25	chr4:129730000-129730400	Enhancers	Dnd41	blood
26	chr4:129730000-129730400	Enhancers	Hela-S3	cervix
27	chr4:129730000-129730600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:129730000-129734000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr4:129730200-129730400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:129730200-129730400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:129730200-129730400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:129730200-129730400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:129730200-129730400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:129730200-129730400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:129730200-129730400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr4:129730200-129730400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr4:129730200-129730400	Enhancers	Primary B cells from cord blood	blood
38	chr4:129730200-129730400	Enhancers	Primary B cells from peripheral blood	blood
39	chr4:129730200-129730400	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr4:129730200-129730400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr4:129730200-129730400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:129730200-129730400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr4:129730200-129730400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr4:129730200-129730400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:129730200-129730400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:129730200-129730400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr4:129730200-129730400	Enhancers	Liver	Liver
48	chr4:129730200-129730400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:129730200-129730400	Enhancers	Fetal Lung	lung
50	chr4:129730200-129730400	Enhancers	HUVEC	blood vessel

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