Variant report

Variant	nsv822717
Chromosome Location	chr4:129724785-129739862
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	chr4:129733056-129733419	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:129733069-129733140	K562	blood:	n/a	n/a
3	ARID3A	chr4:129732038-129732519	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:129730637-129731577	K562	blood:	n/a	chr4:129731284-129731292
5	ARID3A	chr4:129730583-129731709	HepG2	liver:	n/a	chr4:129731284-129731292
6	ATF2	chr4:129731119-129731494	GM12878	blood:	n/a	n/a
7	ATF2	chr4:129731939-129732672	GM12878	blood:	n/a	n/a
8	ATF2	chr4:129730629-129730989	GM12878	blood:	n/a	n/a
9	ATF2	chr4:129731142-129731783	GM12878	blood:	n/a	n/a
10	ATF2	chr4:129730571-129730942	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr4:129731612-129731877	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr4:129730484-129731078	GM12878	blood:	n/a	n/a
13	ATF2	chr4:129730540-129730947	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr4:129731156-129731606	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr4:129733247-129733506	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr4:129731890-129732722	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr4:129731986-129732799	GM12878	blood:	n/a	n/a
18	ATF2	chr4:129732015-129732582	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr4:129733538-129734069	GM12878	blood:	n/a	n/a
20	ATF2	chr4:129732826-129733531	GM12878	blood:	n/a	n/a
21	ATF2	chr4:129733630-129734051	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF3	chr4:129730573-129731062	A549	lung:	n/a	n/a
23	ATF3	chr4:129733184-129733642	K562	blood:	n/a	n/a
24	ATF3	chr4:129732434-129732753	K562	blood:	n/a	chr4:129732709-129732718
25	ATF3	chr4:129733262-129733590	K562	blood:	n/a	n/a
26	ATF3	chr4:129730645-129730969	A549	lung:	n/a	n/a
27	ATF3	chr4:129731971-129732548	A549	lung:	n/a	n/a
28	ATF3	chr4:129733139-129733559	A549	lung:	n/a	chr4:129733161-129733170
29	BACH1	chr4:129732144-129732643	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr4:129733297-129733987	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr4:129730606-129731283	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr4:129735435-129735466	K562	blood:	n/a	n/a
33	BACH1	chr4:129732523-129732530	K562	blood:	n/a	n/a
34	BACH1	chr4:129730742-129731433	K562	blood:	n/a	n/a
35	BATF	chr4:129730671-129730972	GM12878	blood:	n/a	n/a
36	BATF	chr4:129725044-129725287	GM12878	blood:	n/a	n/a
37	BCL3	chr4:129730470-129730962	A549	lung:	n/a	chr4:129730676-129730689 chr4:129730683-129730696
38	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
39	BCL3	chr4:129730655-129731114	GM12878	blood:	n/a	chr4:129730676-129730689 chr4:129730683-129730696
40	BCL3	chr4:129732289-129732724	GM12878	blood:	n/a	chr4:129732577-129732586 chr4:129732615-129732624 chr4:129732460-129732469 chr4:129732455-129732468 chr4:129732394-129732407
41	BCL3	chr4:129731914-129732648	A549	lung:	n/a	chr4:129732577-129732586 chr4:129732615-129732624 chr4:129732460-129732469 chr4:129732455-129732468 chr4:129732394-129732407
42	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
43	BCL3	chr4:129731993-129732540	A549	lung:	n/a	chr4:129732460-129732469 chr4:129732455-129732468 chr4:129732394-129732407
44	BCL3	chr4:129730461-129730961	A549	lung:	n/a	chr4:129730676-129730689 chr4:129730683-129730696
45	BCLAF1	chr4:129730527-129731076	GM12878	blood:	n/a	chr4:129730676-129730689 chr4:129730683-129730696
46	BCLAF1	chr4:129731925-129732712	K562	blood:	n/a	chr4:129732577-129732586 chr4:129732615-129732624 chr4:129732460-129732469 chr4:129732455-129732468 chr4:129732394-129732407
47	BCLAF1	chr4:129730491-129731283	GM12878	blood:	n/a	chr4:129730676-129730689 chr4:129730683-129730696
48	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
49	BCLAF1	chr4:129732851-129733592	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 chr4:129733067-129733080 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	chr4:129732798-129733658	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:129731835-129731885	HRCEpiC	kidney:	n/a
2	chr4:129731835-129731885	HRCEpiC	kidney:	n/a
3	chr4:129733574-129733624	HCT-116	colon:	n/a
4	chr4:129729685-129729735	NT2-D1	testis:	n/a
5	chr4:129733571-129733621	HNPCEpiC	eye:	n/a
6	chr4:129731835-129731885	HEEpiC	esophagus:	n/a
7	chr4:129734882-129734932	Hepatocyte	liver:	n/a
8	chr4:129732568-129732618	HPAEpiC	pulmonary alveolar:	n/a
9	chr4:129730670-129730720	HepG2	liver:	n/a
10	chr4:129730719-129730769	HCF	heart:	n/a
11	chr4:129733028-129733078	HEEpiC	esophagus:	n/a
12	chr4:129731335-129731385	AG09309	skin:	n/a
13	chr4:129733887-129733937	T-47D	breast:	n/a
14	chr4:129731335-129731385	HCT-116	colon:	n/a
15	chr4:129734882-129734932	SK-N-SH	brain:	n/a
16	chr4:129733057-129733107	SAEC	small airway:	n/a
17	chr4:129730778-129730828	Jurkat	blood:	n/a
18	chr4:129730732-129730782	NH-A	brain:	n/a
19	chr4:129733571-129733621	NHBE	bronchial:	n/a
20	chr4:129732056-129732106	HNPCEpiC	eye:	n/a
21	chr4:129734882-129734932	MCF10A-Er-Src	breast:	n/a
22	chr4:129730729-129730779	HUVEC	blood vessel:	n/a
23	chr4:129729685-129729735	NB4	blood:	n/a
24	chr4:129733887-129733937	CMK	blood:	n/a
25	chr4:129730729-129730779	SK-N-SH	brain:	n/a
26	chr4:129730778-129730828	HNPCEpiC	eye:	n/a
27	chr4:129731973-129732023	BE2_C	brain:	n/a
28	chr4:129733028-129733078	HL-60	blood:	n/a
29	chr4:129733571-129733621	HCM	heart:	n/a
30	chr4:129730719-129730769	GM12892	blood:	n/a
31	chr4:129733028-129733078	MCF-7	breast:	n/a
32	chr4:129730778-129730828	HRE	kidney:	n/a
33	chr4:129731335-129731385	CMK	blood:	n/a
34	chr4:129729685-129729735	NH-A	brain:	n/a
35	chr4:129730670-129730720	HMEC	breast:	n/a
36	chr4:129730137-129730187	NHBE	bronchial:	n/a
37	chr4:129733057-129733107	AG09319	gingival:	n/a
38	chr4:129731335-129731385	HCM	heart:	n/a
39	chr4:129731335-129731385	PANC-1	pancreas:	n/a
40	chr4:129731315-129731365	HRE	kidney:	n/a
41	chr4:129730778-129730828	GM12891	blood:	n/a
42	chr4:129730137-129730187	HCF	heart:	n/a
43	chr4:129733887-129733937	GM12892	blood:	n/a
44	chr4:129733887-129733937	SK-N-MC	brain:	n/a
45	chr4:129730732-129730782	CMK	blood:	n/a
46	chr4:129732056-129732106	HMEC	breast:	n/a
47	chr4:129733057-129733107	U87	brain:	n/a
48	chr4:129733057-129733107	HAEpiC	amniotic membrane:	n/a
49	chr4:129730732-129730782	HCM	heart:	n/a
50	chr4:129731156-129731206	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:129730547..129732304-chr4:129732580..129735331,2	MCF-7	breast:
2	chr3:51421956..51422564-chr4:129732676..129733360,2	Hela-S3	cervix:
3	chr4:129732986..129733867-chr8:87354568..87355416,2	Hela-S3	cervix:
4	chr4:129472659..129478043-chr4:129729703..129733779,4	K562	blood:
5	chr4:129374782..129377512-chr4:129729521..129732215,3	K562	blood:
6	chr4:129471355..129474956-chr4:129730853..129734024,4	MCF-7	breast:
7	chr4:129208294..129210116-chr4:129731375..129734707,3	MCF-7	breast:
8	chr4:129521846..129523851-chr4:129730837..129734105,3	K562	blood:
9	chr4:129728325..129729008-chr8:43092928..43093431,2	MCF-7	breast:
10	chr3:73160089..73160613-chr4:129732630..129733505,2	Hela-S3	cervix:
11	chr4:100869660..100871292-chr4:129732222..129733752,2	K562	blood:
12	chr4:129472709..129474756-chr4:129728389..129731319,2	MCF-7	breast:
13	chr4:129732508..129734701-chr9:131037759..131039392,2	K562	blood:
14	chr4:129732800..129733514-chr7:44835890..44836515,2	Hela-S3	cervix:
15	chr10:129923861..129924531-chr4:129733097..129733634,2	Hela-S3	cervix:
16	chr4:129658670..129660547-chr4:129733164..129735404,2	K562	blood:
17	chr4:129736160..129738692-chr4:129755365..129757627,2	K562	blood:
18	chr17:41465708..41466487-chr4:129732407..129733255,2	Hela-S3	cervix:
19	chr4:129730340..129733748-chr4:130013373..130016609,5	K562	blood:
20	chr4:129733346..129735298-chr4:129750258..129752635,2	MCF-7	breast:
21	chr4:128980795..128984031-chr4:129730059..129735028,7	K562	blood:
22	chr4:129732203..129736510-chr4:129738670..129742463,5	MCF-7	breast:
23	chr4:129207558..129209105-chr4:129728853..129730896,2	K562	blood:
24	chr4:129725702..129726480-chr4:129789353..129790148,2	MCF-7	breast:
25	chr4:129348880..129349601-chr4:129730054..129731203,4	MCF-7	breast:
26	chr4:129382385..129384000-chr4:129736037..129738354,2	K562	blood:
27	chr4:129521730..129523961-chr4:129725803..129727506,2	K562	blood:
28	chr4:129391462..129394361-chr4:129730843..129732581,2	K562	blood:
29	chr4:129730646..129731365-chr6:31939370..31940250,2	Hela-S3	cervix:
30	chr4:129739255..129743318-chr4:129756229..129760124,4	K562	blood:
31	chr4:129731357..129734214-chr4:129752200..129753715,2	K562	blood:
32	chr4:129206178..129209498-chr4:129731212..129733921,5	K562	blood:
33	chr4:129488526..129491708-chr4:129730813..129734421,3	K562	blood:
34	chr4:129376233..129378209-chr4:129732417..129734639,2	MCF-7	breast:
35	chr4:129518963..129527383-chr4:129727996..129735335,14	K562	blood:
36	chr4:129376012..129378140-chr4:129729596..129731686,2	K562	blood:
37	chr4:129491375..129494260-chr4:129730648..129733095,2	MCF-7	breast:
38	chr4:129473168..129475213-chr4:129730479..129732295,2	K562	blood:
39	chr4:129212724..129215636-chr4:129733775..129736025,2	K562	blood:
40	chr4:129730289..129733712-chr4:129739240..129742412,4	MCF-7	breast:
41	chr4:129733589..129734125-chr6:33267187..33267913,2	Hela-S3	cervix:
42	chr1:228352349..228353216-chr4:129731096..129731690,2	Hela-S3	cervix:
43	chr11:62608655..62609419-chr4:129731014..129731869,3	Hela-S3	cervix:
44	chr4:129209335..129213237-chr4:129730288..129733311,3	K562	blood:
45	chr4:129731839..129732721-chr6:4021268..4022047,2	Hela-S3	cervix:
46	chr4:129730547..129732304-chr4:129732580..129735331,2	MCF-7	breast:
47	chr4:129374742..129377081-chr4:129732245..129734297,2	K562	blood:
48	chr4:120987081..120989411-chr4:129732197..129734433,2	K562	blood:
49	chr4:129730688..129731418-chr6:24720530..24721134,2	Hela-S3	cervix:
50	chr4:129489796..129491708-chr4:129731783..129734421,2	K562	blood:

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

Extended variants
information (count: 566 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569363948	chr4:129724791-129724792	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs114585001	chr4:129724843-129724844	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs78657337	chr4:129724844-129724845	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537194268	chr4:129724854-129724855	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115346229	chr4:129724898-129724899	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs370466419	chr4:129724904-129724905	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs142318880	chr4:129724950-129724951	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536390859	chr4:129724951-129724952	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558578811	chr4:129724971-129724972	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs557132906	chr4:129725005-129725006	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs373867121	chr4:129725057-129725058	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577904668	chr4:129725076-129725077	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs185141810	chr4:129725138-129725139	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs62317868	chr4:129725180-129725181	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs376648771	chr4:129725223-129725224	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs576580265	chr4:129725225-129725226	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs543928561	chr4:129725227-129725228	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs576438051	chr4:129725252-129725253	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561911344	chr4:129725283-129725284	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs529333203	chr4:129725284-129725285	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541350296	chr4:129725318-129725319	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs559576380	chr4:129725369-129725370	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533449037	chr4:129725378-129725379	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs79023504	chr4:129725478-129725479	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs374417994	chr4:129725499-129725500	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559642512	chr4:129725532-129725533	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569930733	chr4:129725570-129725571	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs530507714	chr4:129725583-129725584	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs549090614	chr4:129725627-129725628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189897925	chr4:129725678-129725679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534656337	chr4:129725706-129725707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553015978	chr4:129725798-129725799	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs141740345	chr4:129725801-129725802	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs36060300	chr4:129725815-129725816	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs79355397	chr4:129725834-129725835	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs182564551	chr4:129725854-129725855	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs369356620	chr4:129725866-129725867	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs147100138	chr4:129725868-129725869	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs6834108	chr4:129725894-129725895	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs185844281	chr4:129725917-129725918	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs113539499	chr4:129725983-129725984	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs560904119	chr4:129726009-129726010	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs529709151	chr4:129726032-129726033	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs191812617	chr4:129726115-129726116	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183634487	chr4:129726123-129726124	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs371853722	chr4:129726141-129726142	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs75288234	chr4:129726146-129726147	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs140173752	chr4:129726227-129726228	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs563519964	chr4:129726242-129726243	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs188679724	chr4:129726280-129726281	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 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:807 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129719800-129726200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:129720000-129726400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:129721600-129725400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr4:129723200-129724800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr4:129723600-129724800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr4:129723600-129730000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:129723600-129730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:129724000-129724800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr4:129724000-129726200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:129724200-129724800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:129724200-129724800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:129724200-129724800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr4:129724200-129724800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:129724200-129725000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:129724200-129725200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:129724200-129725200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:129724200-129725600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr4:129724200-129725600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:129724200-129725600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr4:129724200-129725600	Enhancers	Fetal Intestine Small	intestine
21	chr4:129724200-129726200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr4:129724400-129724800	Enhancers	GM12878-XiMat	blood
23	chr4:129724400-129725200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:129724400-129725400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:129724400-129725400	Enhancers	Stomach Mucosa	stomach
26	chr4:129724400-129726200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:129724400-129726200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:129724400-129727400	Enhancers	Placenta	Placenta
29	chr4:129724600-129724800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:129724600-129724800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:129724600-129725000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:129724600-129725200	Active TSS	Colonic Mucosa	Colon
33	chr4:129724600-129725400	Enhancers	Duodenum Mucosa	Duodenum
34	chr4:129724600-129725600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:129724600-129725600	Enhancers	Fetal Intestine Large	intestine
36	chr4:129724600-129726200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:129724600-129726200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:129724800-129725000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:129724800-129725200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr4:129724800-129725200	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr4:129724800-129725200	Flanking Active TSS	GM12878-XiMat	blood
42	chr4:129724800-129725400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr4:129724800-129725400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr4:129724800-129725400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:129724800-129725600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr4:129724800-129726200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr4:129724800-129726400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:129724800-129726400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr4:129724800-129730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:129725000-129725200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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