Variant report

Variant	esv3321753
Chromosome Location	chr4:129731527-129734875
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	chr4:129733069-129733140	K562	blood:	n/a	n/a
2	ARID3A	chr4:129730637-129731577	K562	blood:	n/a	chr4:129731284-129731292
3	ARID3A	chr4:129733056-129733419	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:129730583-129731709	HepG2	liver:	n/a	chr4:129731284-129731292
5	ARID3A	chr4:129732038-129732519	HepG2	liver:	n/a	n/a
6	ATF2	chr4:129731612-129731877	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	chr4:129732015-129732582	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr4:129733247-129733506	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr4:129732826-129733531	GM12878	blood:	n/a	n/a
11	ATF2	chr4:129733538-129734069	GM12878	blood:	n/a	n/a
12	ATF2	chr4:129731156-129731606	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr4:129731986-129732799	GM12878	blood:	n/a	n/a
14	ATF2	chr4:129733630-129734051	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr4:129731142-129731783	GM12878	blood:	n/a	n/a
16	ATF2	chr4:129731939-129732672	GM12878	blood:	n/a	n/a
17	ATF3	chr4:129733262-129733590	K562	blood:	n/a	n/a
18	ATF3	chr4:129731971-129732548	A549	lung:	n/a	n/a
19	ATF3	chr4:129733184-129733642	K562	blood:	n/a	n/a
20	ATF3	chr4:129732434-129732753	K562	blood:	n/a	chr4:129732709-129732718
21	ATF3	chr4:129733139-129733559	A549	lung:	n/a	chr4:129733161-129733170
22	BACH1	chr4:129732523-129732530	K562	blood:	n/a	n/a
23	BACH1	chr4:129732144-129732643	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr4:129733297-129733987	H1-hESC	embryonic stem cell:	n/a	n/a
25	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
26	BCL3	chr4:129731993-129732540	A549	lung:	n/a	chr4:129732460-129732469 chr4:129732455-129732468 chr4:129732394-129732407
27	BCL3	chr4:129732289-129732724	GM12878	blood:	n/a	chr4:129732577-129732586 chr4:129732615-129732624 chr4:129732460-129732469 chr4:129732455-129732468 chr4:129732394-129732407
28	BCL3	chr4:129731914-129732648	A549	lung:	n/a	chr4:129732577-129732586 chr4:129732615-129732624 chr4:129732460-129732469 chr4:129732455-129732468 chr4:129732394-129732407
29	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
30	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
31	BCLAF1	chr4:129731925-129732712	K562	blood:	n/a	chr4:129732577-129732586 chr4:129732615-129732624 chr4:129732460-129732469 chr4:129732455-129732468 chr4:129732394-129732407
32	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
33	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
34	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
35	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
36	BHLHE40	chr4:129732024-129732808	HepG2	liver:	n/a	chr4:129732740-129732756 chr4:129732482-129732498 chr4:129732710-129732726
37	BHLHE40	chr4:129732088-129732774	A549	lung:	n/a	chr4:129732740-129732756 chr4:129732482-129732498 chr4:129732710-129732726
38	BHLHE40	chr4:129732251-129732640	HepG2	liver:	n/a	chr4:129732482-129732498
39	BHLHE40	chr4:129731522-129733932	GM12878	blood:	n/a	chr4:129733069-129733085 chr4:129733319-129733335 chr4:129733244-129733260 chr4:129732740-129732756 chr4:129733241-129733257 chr4:129732482-129732498 chr4:129733560-129733576 chr4:129733530-129733546 chr4:129732923-129732939 chr4:129733274-129733290 chr4:129732710-129732726 chr4:129733327-129733343
40	BHLHE40	chr4:129731593-129733886	K562	blood:	n/a	chr4:129733069-129733085 chr4:129733319-129733335 chr4:129733244-129733260 chr4:129732740-129732756 chr4:129733241-129733257 chr4:129732482-129732498 chr4:129733560-129733576 chr4:129733530-129733546 chr4:129732923-129732939 chr4:129733274-129733290 chr4:129732710-129732726 chr4:129733327-129733343
41	BRCA1	chr4:129733322-129733821	HepG2	liver:	n/a	n/a
42	BRCA1	chr4:129733243-129733511	GM12878	blood:	n/a	n/a
43	BRCA1	chr4:129732590-129732630	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr4:129732252-129732508	GM12878	blood:	n/a	n/a
45	BRCA1	chr4:129731685-129732683	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr4:129732138-129732336	HepG2	liver:	n/a	n/a
47	BRCA1	chr4:129731412-129732347	H1-hESC	embryonic stem cell:	n/a	n/a
48	CBX3	chr4:129733637-129734023	K562	blood:	n/a	n/a
49	CBX3	chr4:129731610-129732806	K562	blood:	n/a	n/a
50	CBX3	chr4:129732853-129733628	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:129733574-129733624	AG04450	lung:	fetal
2	chr4:129733574-129733624	AG10803	skin:	n/a
3	chr4:129733057-129733107	Hepatocyte	liver:	n/a
4	chr4:129731973-129732023	HCPEpiC	choroid plexus:	n/a
5	chr4:129732056-129732106	NB4	blood:	n/a
6	chr4:129733057-129733107	ovcar-3	ovarian:	n/a
7	chr4:129732056-129732106	IMR90	lung:	fetal
8	chr4:129733887-129733937	Hepatocyte	liver:	n/a
9	chr4:129733028-129733078	HCPEpiC	choroid plexus:	n/a
10	chr4:129731973-129732023	HRE	kidney:	n/a
11	chr4:129731973-129732023	GM12891	blood:	n/a
12	chr4:129732056-129732106	AG10803	skin:	n/a
13	chr4:129731973-129732023	A549	lung:	n/a
14	chr4:129733571-129733621	GM06990	blood:	n/a
15	chr4:129732568-129732618	BE2_C	brain:	n/a
16	chr4:129733571-129733621	K562	blood:	n/a
17	chr4:129733571-129733621	ovcar-3	ovarian:	n/a
18	chr4:129731835-129731885	NH-A	brain:	n/a
19	chr4:129733574-129733624	HNPCEpiC	eye:	n/a
20	chr4:129733057-129733107	RPTEC	kidney:	n/a
21	chr4:129733571-129733621	MCF-7	breast:	n/a
22	chr4:129733057-129733107	GM12891	blood:	n/a
23	chr4:129733028-129733078	GM12892	blood:	n/a
24	chr4:129731835-129731885	MCF10A-Er-Src	breast:	n/a
25	chr4:129731835-129731885	PANC-1	pancreas:	n/a
26	chr4:129732056-129732106	HRCEpiC	kidney:	n/a
27	chr4:129731835-129731885	AG04450	lung:	fetal
28	chr4:129733574-129733624	Caco-2	colon:	n/a
29	chr4:129733887-129733937	ECC-1	luminal epithelium:	n/a
30	chr4:129732568-129732618	Caco-2	colon:	n/a
31	chr4:129731973-129732023	Hepatocyte	liver:	n/a
32	chr4:129731835-129731885	HUVEC	blood vessel:	n/a
33	chr4:129733887-129733937	SK-N-SH	brain:	n/a
34	chr4:129731835-129731885	HNPCEpiC	eye:	n/a
35	chr4:129732056-129732106	ECC-1	luminal epithelium:	n/a
36	chr4:129732568-129732618	AG09319	gingival:	n/a
37	chr4:129732568-129732618	GM06990	blood:	n/a
38	chr4:129731835-129731885	AoSMC	blood vessel:	n/a
39	chr4:129732056-129732106	AoSMC	blood vessel:	n/a
40	chr4:129731973-129732023	AoSMC	blood vessel:	n/a
41	chr4:129732056-129732106	A549	lung:	n/a
42	chr4:129731835-129731885	SK-N-SH_RA	brain:	n/a
43	chr4:129733574-129733624	HRE	kidney:	n/a
44	chr4:129732056-129732106	Caco-2	colon:	n/a
45	chr4:129733028-129733078	HEEpiC	esophagus:	n/a
46	chr4:129733057-129733107	GM12892	blood:	n/a
47	chr4:129732056-129732106	MCF10A-Er-Src	breast:	n/a
48	chr4:129733887-129733937	GM12892	blood:	n/a
49	chr4:129733571-129733621	AG09309	skin:	n/a
50	chr4:129732568-129732618	SK-N-MC	brain:	n/a

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

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

Extended variants
information (count: 102 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	rs192554569	chr4:129731638-129731639	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs576764451	chr4:129731688-129731689	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs545626983	chr4:129731697-129731698	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs573975299	chr4:129731722-129731723	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs570298884	chr4:129731724-129731725	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs567533227	chr4:129731812-129731813	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs559403746	chr4:129731870-129731871	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs534936411	chr4:129732008-129732009	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs150826756	chr4:129732028-129732029	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs139941718	chr4:129732076-129732077	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs2217023	chr4:129732099-129732100	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs558275927	chr4:129732114-129732115	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs76091097	chr4:129732158-129732159	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs117413947	chr4:129732219-129732220	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
19	rs561965113	chr4:129732262-129732263	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs573975447	chr4:129732481-129732482	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs541361595	chr4:129732483-129732484	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs184939105	chr4:129732492-129732493	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs559512668	chr4:129732599-129732600	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs533395698	chr4:129732669-129732670	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs551686735	chr4:129732747-129732748	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs563355386	chr4:129732752-129732753	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs200881480	chr4:129732799-129732800	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs371392470	chr4:129732800-129732801	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
29	rs530535141	chr4:129732997-129732998	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
30	rs548934485	chr4:129733040-129733041	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs547101740	chr4:129733108-129733109	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
32	rs62317870	chr4:129733125-129733126	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs534897852	chr4:129733170-129733171	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
34	rs546954560	chr4:129733176-129733177	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
35	rs571460958	chr4:129733220-129733221	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
36	rs188257689	chr4:129733281-129733282	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
37	rs556894643	chr4:129733303-129733304	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs145472980	chr4:129733365-129733366	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs537178551	chr4:129733372-129733373	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs555718710	chr4:129733381-129733382	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs573738993	chr4:129733431-129733432	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs558931543	chr4:129733452-129733453	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs374742398	chr4:129733453-129733454	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs541323404	chr4:129733471-129733472	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs370224139	chr4:129733484-129733485	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs559572043	chr4:129733514-129733515	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs192262761	chr4:129733521-129733522	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs545548695	chr4:129733525-129733526	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs561520391	chr4:129733531-129733532	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs13122124	chr4:129733553-129733554	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	16 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:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129730000-129734000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr4:129730200-129734200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:129730200-129734200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:129730200-129734200	Active TSS	K562	blood
5	chr4:129730200-129734400	Active TSS	NHDF-Ad	bronchial
6	chr4:129730400-129732000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:129730400-129732000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:129730400-129732000	Active TSS	Placenta	Placenta
9	chr4:129730400-129732000	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr4:129730400-129732000	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr4:129730400-129732200	Active TSS	Right Atrium	heart
12	chr4:129730400-129733600	Active TSS	Primary T cells fromperipheralblood	blood
13	chr4:129730400-129733600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:129730400-129733600	Active TSS	Thymus	Thymus
15	chr4:129730400-129733800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:129730400-129733800	Active TSS	Primary T cells from cord blood	blood
17	chr4:129730400-129733800	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr4:129730400-129733800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:129730400-129733800	Active TSS	Brain Cingulate Gyrus	brain
20	chr4:129730400-129733800	Active TSS	Brain Hippocampus Middle	brain
21	chr4:129730400-129733800	Active TSS	Fetal Brain Female	brain
22	chr4:129730400-129733800	Active TSS	Fetal Kidney	kidney
23	chr4:129730400-129733800	Active TSS	Fetal Muscle Leg	muscle
24	chr4:129730400-129733800	Active TSS	Fetal Thymus	thymus
25	chr4:129730400-129733800	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr4:129730400-129733800	Active TSS	Stomach Smooth Muscle	stomach
27	chr4:129730400-129733800	Active TSS	Osteobl	bone
28	chr4:129730400-129734000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:129730400-129734000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:129730400-129734000	Active TSS	Fetal Intestine Large	intestine
31	chr4:129730400-129734000	Active TSS	Pancreas	Pancrea
32	chr4:129730400-129734000	Active TSS	Rectal Smooth Muscle	rectum
33	chr4:129730400-129734000	Active TSS	NHEK	skin
34	chr4:129730400-129734200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:129730400-129734200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:129730400-129734200	Active TSS	Brain Angular Gyrus	brain
37	chr4:129730400-129734200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr4:129730400-129734200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:129730400-129734200	Active TSS	Brain Substantia Nigra	brain
40	chr4:129730400-129734200	Active TSS	Colon Smooth Muscle	Colon
41	chr4:129730400-129734200	Active TSS	Fetal Muscle Trunk	muscle
42	chr4:129730400-129734200	Active TSS	Left Ventricle	heart
43	chr4:129730400-129734200	Active TSS	Ovary	ovary
44	chr4:129730400-129734200	Active TSS	HSMM	muscle
45	chr4:129730400-129734200	Active TSS	HSMMtube	muscle
46	chr4:129730400-129734400	Active TSS	Brain Anterior Caudate	brain
47	chr4:129730400-129734400	Active TSS	Psoas Muscle	Psoas
48	chr4:129730400-129734400	Active TSS	GM12878-XiMat	blood
49	chr4:129730400-129734400	Active TSS	HMEC	breast
50	chr4:129730400-129734400	Active TSS	NH-A	brain

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