Variant report

Variant	nsv595393
Chromosome Location	chr4:128982137-129012638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1176)
CpG islands
(count:488)
Chromatin interactive
region (count:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1176 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:128981543-128982598	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:128983400-128983649	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:128984105-128984249	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:128986727-128987315	HepG2	liver:	n/a	n/a
5	ATF2	chr4:128982074-128982372	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr4:128983220-128983669	GM12878	blood:	n/a	n/a
7	ATF2	chr4:128982261-128982629	GM12878	blood:	n/a	n/a
8	BACH1	chr4:128982219-128982529	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr4:128983464-128983885	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr4:129002767-129002976	GM12878	blood:	n/a	n/a
11	BATF	chr4:129002785-129003040	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:129002656-129003047	GM12878	blood:	n/a	n/a
13	BCL11A	chr4:129002813-129003003	GM12878	blood:	n/a	n/a
14	BCLAF1	chr4:128981687-128982576	K562	blood:	n/a	chr4:128981987-128982000 chr4:128982154-128982167 chr4:128982206-128982215 chr4:128982534-128982543 chr4:128982538-128982551 chr4:128981979-128981992
15	BCLAF1	chr4:128982700-128983596	GM12878	blood:	n/a	chr4:128983023-128983036 chr4:128983286-128983295 chr4:128983261-128983274 chr4:128982948-128982961
16	BCLAF1	chr4:128981785-128982624	GM12878	blood:	n/a	chr4:128981987-128982000 chr4:128982154-128982167 chr4:128982206-128982215 chr4:128982534-128982543 chr4:128982538-128982551 chr4:128981979-128981992
17	BCLAF1	chr4:128983180-128983608	GM12878	blood:	n/a	chr4:128983286-128983295 chr4:128983261-128983274
18	BCLAF1	chr4:128981808-128982661	GM12878	blood:	n/a	chr4:128981987-128982000 chr4:128982154-128982167 chr4:128982206-128982215 chr4:128982534-128982543 chr4:128982538-128982551 chr4:128981979-128981992
19	BHLHE40	chr4:128982019-128983699	GM12878	blood:	n/a	chr4:128983261-128983277 chr4:128982951-128982967 chr4:128982345-128982361 chr4:128982410-128982426 chr4:128983045-128983061 chr4:128982321-128982337
20	BHLHE40	chr4:128981762-128982726	K562	blood:	n/a	chr4:128982345-128982361 chr4:128982410-128982426 chr4:128981962-128981978 chr4:128982321-128982337
21	BHLHE40	chr4:129002753-129003064	HepG2	liver:	n/a	n/a
22	BHLHE40	chr4:128983328-128983528	K562	blood:	n/a	n/a
23	BHLHE40	chr4:128981630-128982643	HepG2	liver:	n/a	chr4:128982345-128982361 chr4:128982410-128982426 chr4:128981962-128981978 chr4:128982321-128982337
24	BHLHE40	chr4:128983066-128983096	K562	blood:	n/a	n/a
25	BHLHE40	chr4:128984053-128984320	K562	blood:	n/a	n/a
26	BRCA1	chr4:128982927-128982934	HepG2	liver:	n/a	n/a
27	BRCA1	chr4:128981582-128982559	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr4:128982144-128982530	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr4:128981937-128982575	HepG2	liver:	n/a	n/a
30	BRCA1	chr4:128982124-128982545	GM12878	blood:	n/a	n/a
31	CBX3	chr4:128983157-128983733	K562	blood:	n/a	n/a
32	CBX3	chr4:128982070-128982300	K562	blood:	n/a	n/a
33	CBX3	chr4:128981716-128982568	K562	blood:	n/a	n/a
34	CCNT2	chr4:128981845-128983664	K562	blood:	n/a	n/a
35	CEBPB	chr4:128987322-128987482	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr4:128987002-128987347	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr4:128994448-128994569	K562	blood:	n/a	n/a
38	CEBPB	chr4:128986958-128987539	HepG2	liver:	n/a	n/a
39	CEBPB	chr4:128981764-128982617	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr4:128986915-128987537	HepG2	liver:	n/a	n/a
41	CEBPB	chr4:128983273-128983627	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr4:128981890-128982576	HepG2	liver:	n/a	n/a
43	CEBPB	chr4:128982290-128982569	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPD	chr4:128981991-128982475	K562	blood:	n/a	n/a
45	CEBPD	chr4:128981823-128982353	HepG2	liver:	n/a	n/a
46	CEBPD	chr4:128982361-128982731	HepG2	liver:	n/a	n/a
47	CEBPD	chr4:128982442-128982617	HepG2	liver:	n/a	n/a
48	CHD1	chr4:128983238-128983731	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr4:128981776-128983732	GM12878	blood:	n/a	chr4:128982482-128982492 chr4:128983028-128983038
50	CHD1	chr4:128981560-128982333	H1-hESC	embryonic stem cell:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:128982462-128982512	AG04449	skin:	fetal
2	chr4:128983634-128983684	HNPCEpiC	eye:	n/a
3	chr4:128982454-128982504	U87	brain:	n/a
4	chr4:128982462-128982512	MCF10A-Er-Src	breast:	n/a
5	chr4:128983441-128983491	ProgFib	skin:	n/a
6	chr4:128983634-128983684	NT2-D1	testis:	n/a
7	chr4:128987117-128987167	HL-60	blood:	n/a
8	chr4:128982446-128982496	NB4	blood:	n/a
9	chr4:128982454-128982504	GM12891	blood:	n/a
10	chr4:128983807-128983857	SK-N-MC	brain:	n/a
11	chr4:128983279-128983329	HCF	heart:	n/a
12	chr4:128982446-128982496	HIPEpiC	eye:	n/a
13	chr4:128982462-128982512	NHBE	bronchial:	n/a
14	chr4:128987117-128987167	HCPEpiC	choroid plexus:	n/a
15	chr4:128983807-128983857	HNPCEpiC	eye:	n/a
16	chr4:128983634-128983684	HMEC	breast:	n/a
17	chr4:128983634-128983684	AG10803	skin:	n/a
18	chr4:128987117-128987167	AG09319	gingival:	n/a
19	chr4:128983279-128983329	HPAEpiC	pulmonary alveolar:	n/a
20	chr4:128983279-128983329	MCF10A-Er-Src	breast:	n/a
21	chr4:128982446-128982496	T-47D	breast:	n/a
22	chr4:128982446-128982496	HCM	heart:	n/a
23	chr4:128983441-128983491	GM12892	blood:	n/a
24	chr4:128982462-128982512	GM19239	blood:	n/a
25	chr4:128982462-128982512	MCF-7	breast:	n/a
26	chr4:128983279-128983329	HUVEC	blood vessel:	n/a
27	chr4:128982462-128982512	GM06990	blood:	n/a
28	chr4:128983441-128983491	AG09309	skin:	n/a
29	chr4:128982454-128982504	NHBE	bronchial:	n/a
30	chr4:128983441-128983491	Jurkat	blood:	n/a
31	chr4:128987117-128987167	Jurkat	blood:	n/a
32	chr4:128983279-128983329	CMK	blood:	n/a
33	chr4:128983634-128983684	MCF-7	breast:	n/a
34	chr4:128983807-128983857	Hela-S3	cervix:	n/a
35	chr4:128983634-128983684	BE2_C	brain:	n/a
36	chr4:128982462-128982512	HCT-116	colon:	n/a
37	chr4:128983807-128983857	PrEC	prostate:	n/a
38	chr4:128987117-128987167	AG04450	lung:	fetal
39	chr4:128982446-128982496	IMR90	lung:	fetal
40	chr4:128983807-128983857	HEEpiC	esophagus:	n/a
41	chr4:128983634-128983684	GM19239	blood:	n/a
42	chr4:128983279-128983329	LNCaP	prostate:	n/a
43	chr4:128982454-128982504	SAEC	small airway:	n/a
44	chr4:128983441-128983491	AoSMC	blood vessel:	n/a
45	chr4:128982454-128982504	RPTEC	kidney:	n/a
46	chr4:128983441-128983491	BJ	skin:	n/a
47	chr4:128987117-128987167	MCF-7	breast:	n/a
48	chr4:128982446-128982496	SAEC	small airway:	n/a
49	chr4:128982446-128982496	Hepatocyte	liver:	n/a
50	chr4:128983441-128983491	HNPCEpiC	eye:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:128702147..128704685-chr4:128980177..128982661,2	MCF-7	breast:
2	chr4:128800672..128803742-chr4:128979765..128985676,12	K562	blood:
3	chr4:128884518..128888041-chr4:128980422..128985043,7	MCF-7	breast:
4	chr4:128980375..128984020-chr4:128989687..128993521,7	MCF-7	breast:
5	chr4:128981378..128983346-chr4:128988931..128991317,2	MCF-7	breast:
6	chr4:128869172..128871004-chr4:128982512..128984743,2	K562	blood:
7	chr15:45003006..45003782-chr4:128982373..128982889,2	Hela-S3	cervix:
8	chr4:128981698..128985397-chr4:129207989..129210555,4	K562	blood:
9	chr4:128981725..128985397-chr4:129207989..129209697,3	K562	blood:
10	chr4:128701934..128705815-chr4:128979420..128984468,5	K562	blood:
11	chr4:128593863..128595593-chr4:128981619..128984198,2	K562	blood:
12	chr12:104324118..104324690-chr4:128981820..128982436,2	Hela-S3	cervix:
13	chr4:128982778..128984793-chr4:129000011..129002155,2	K562	blood:
14	chr4:128980866..128984600-chr4:128984636..128991176,13	K562	blood:
15	chr17:79478887..79479404-chr4:128982377..128982993,2	HCT-116	colon:
16	chr4:128869172..128872005-chr4:128982512..128984948,2	K562	blood:
17	chr4:128981555..128983671-chr4:128994020..128995938,2	MCF-7	breast:
18	chr4:128986963..128989911-chr4:129006823..129010664,3	K562	blood:
19	chr4:128981378..128983346-chr4:128988931..128991317,2	MCF-7	breast:
20	chr4:128986308..128988664-chr4:129730557..129733784,3	K562	blood:
21	chr4:128981841..128983896-chr4:128992107..128993678,2	K562	blood:
22	chr4:128981817..128983526-chr4:129043171..129045384,2	MCF-7	breast:
23	chr4:128980795..128984031-chr4:129730059..129735028,7	K562	blood:
24	chr4:128986963..128989911-chr4:129006823..129010664,3	K562	blood:
25	chr4:128885127..128890546-chr4:128980550..128983845,11	K562	blood:
26	chr4:128981936..128982808-chrX:48754752..48755652,2	Hela-S3	cervix:
27	chr16:67217539..67218173-chr4:128981980..128982888,2	Hela-S3	cervix:
28	chr1:110577159..110578119-chr4:128981949..128982607,2	Hela-S3	cervix:
29	chr4:129001965..129003636-chr4:129391600..129393451,2	K562	blood:
30	chr4:128980795..128982891-chr4:129730267..129732892,3	K562	blood:
31	chr4:128981661..128982334-chr6:130031273..130031967,2	NB4	blood:
32	chr4:128800414..128802153-chr4:128991108..128993535,2	K562	blood:
33	chr4:129011599..129013507-chr4:129029164..129031397,2	K562	blood:
34	chr4:128701934..128705815-chr4:128979420..128985014,7	K562	blood:
35	chr4:128988872..128991603-chr4:128995675..128998391,2	K562	blood:
36	chr4:128982778..128984793-chr4:129000011..129002155,2	K562	blood:
37	chr19:14229250..14230220-chr4:128982049..128982904,2	NB4	blood:
38	chr4:128978832..128981419-chr4:128985568..128987375,3	MCF-7	breast:
39	chr2:85132320..85133212-chr4:128982045..128982946,2	Hela-S3	cervix:
40	chr4:128986963..128988724-chr4:129006823..129009589,2	K562	blood:
41	chr4:128993593..128995625-chr4:128998288..128999815,2	K562	blood:
42	chr4:128980375..128984020-chr4:128989687..128993521,7	MCF-7	breast:
43	chr4:128553197..128555974-chr4:128981706..128984336,2	K562	blood:
44	chr4:128980667..128982380-chr4:129732444..129734327,2	MCF-7	breast:
45	chr4:128981366..128983425-chr4:129010610..129012544,2	MCF-7	breast:
46	chr4:128986963..128988724-chr4:129006823..129009589,2	K562	blood:
47	chr4:128884948..128891801-chr4:128980633..128984811,17	K562	blood:
48	chr4:128980817..128984026-chr4:129207052..129210590,3	MCF-7	breast:
49	chr4:128884064..128888795-chr4:128980591..128984632,7	MCF-7	breast:
50	chr4:128989561..128991603-chr4:128996891..128999505,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241651	TF binding region
LARP1B	TF binding region
ENSG00000241651	CpG island
LARP1B	CpG island
ENSG00000143093	chromatin interactions
ENSG00000164066	chromatin interactions
ENSG00000146376	chromatin interactions
ENSG00000251432	chromatin interactions
ENSG00000241651	chromatin interactions
ENSG00000164070	chromatin interactions
ENSG00000034510	chromatin interactions
ENSG00000267783	chromatin interactions
ENSG00000126768	chromatin interactions
ENSG00000164073	chromatin interactions
ENSG00000184009	chromatin interactions
ENSG00000229474	chromatin interactions
ENSG00000166598	chromatin interactions
ENSG00000164040	chromatin interactions
ENSG00000265072	chromatin interactions
ENSG00000077684	chromatin interactions
ENSG00000164074	chromatin interactions
ENSG00000102103	chromatin interactions
ENSG00000166710	chromatin interactions
ENSG00000138709	chromatin interactions
ENSG00000196123	chromatin interactions
ENSG00000142731	chromatin interactions

Extended variants
information (count: 1222 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs380313	chr4:128982208-128982209	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368467819	chr4:128982232-128982233	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
3	rs571954179	chr4:128982296-128982297	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
4	rs532672997	chr4:128982332-128982333	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
5	rs550585196	chr4:128982367-128982368	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
6	rs138941234	chr4:128982369-128982370	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs536376576	chr4:128982379-128982380	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
8	rs554661592	chr4:128982453-128982454	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
9	rs149438035	chr4:128982463-128982464	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
10	rs116203420	chr4:128982487-128982488	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
11	rs558442352	chr4:128982496-128982497	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
12	rs577101188	chr4:128982504-128982505	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs537712661	chr4:128982568-128982569	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs372435409	chr4:128982751-128982752	Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs557345535	chr4:128982757-128982758	Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs2015987	chr4:128982790-128982791	Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542721148	chr4:128982797-128982798	Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs560999362	chr4:128982798-128982799	Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs184401763	chr4:128982811-128982812	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs561086102	chr4:128982819-128982820	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs572997198	chr4:128982863-128982864	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs540849671	chr4:128982869-128982870	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs565322684	chr4:128982870-128982871	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs113903207	chr4:128982937-128982938	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs532857380	chr4:128982948-128982949	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs550965375	chr4:128982990-128982991	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs35204322	chr4:128983046-128983047	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs562473270	chr4:128983065-128983066	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs529676246	chr4:128983129-128983130	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs369029174	chr4:128983136-128983137	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs189288413	chr4:128983139-128983140	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs180953781	chr4:128983169-128983170	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs533853868	chr4:128983182-128983183	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs552362666	chr4:128983242-128983243	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs184031772	chr4:128983266-128983267	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs570523846	chr4:128983355-128983356	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs376376	chr4:128983377-128983378	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs538144667	chr4:128983388-128983389	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs392081	chr4:128983414-128983415	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs113944555	chr4:128983445-128983446	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs556141831	chr4:128983449-128983450	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs149359059	chr4:128983451-128983452	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs429566	chr4:128983462-128983463	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs574380330	chr4:128983526-128983527	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs536293339	chr4:128983537-128983538	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs392453	chr4:128983547-128983548	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs78743723	chr4:128983554-128983555	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs139107338	chr4:128983556-128983557	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs188715234	chr4:128983558-128983559	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs1234092	chr4:128983562-128983563	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	8 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
Myelofibrosis	22110671	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:862 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128981000-128982800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:128981000-128983200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr4:128981000-128983600	Active TSS	Liver	Liver
4	chr4:128981000-128983800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:128981000-128984400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:128981000-128984400	Active TSS	Duodenum Mucosa	Duodenum
7	chr4:128981000-128984400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:128981000-128984400	Active TSS	Rectal Smooth Muscle	rectum
9	chr4:128981200-128982200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:128981200-128982200	Active TSS	Stomach Mucosa	stomach
11	chr4:128981200-128983200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr4:128981200-128983400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:128981200-128983600	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr4:128981200-128983600	Active TSS	Colon Smooth Muscle	Colon
15	chr4:128981200-128983600	Active TSS	Osteobl	bone
16	chr4:128981200-128983800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:128981200-128983800	Active TSS	Brain Hippocampus Middle	brain
18	chr4:128981200-128983800	Active TSS	Psoas Muscle	Psoas
19	chr4:128981200-128984000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr4:128981200-128984000	Active TSS	NHEK	skin
21	chr4:128981200-128984200	Active TSS	Brain Angular Gyrus	brain
22	chr4:128981200-128984200	Active TSS	Fetal Intestine Large	intestine
23	chr4:128981200-128984200	Active TSS	GM12878-XiMat	blood
24	chr4:128981200-128984400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr4:128981200-128984400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr4:128981200-128984400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:128981200-128984400	Active TSS	Fetal Intestine Small	intestine
28	chr4:128981200-128984400	Active TSS	Fetal Kidney	kidney
29	chr4:128981200-128984400	Active TSS	Fetal Stomach	stomach
30	chr4:128981200-128984400	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr4:128981400-128982200	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr4:128981400-128982200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr4:128981400-128982200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr4:128981400-128982200	Active TSS	Fetal Brain Male	brain
35	chr4:128981400-128982800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:128981400-128983400	Active TSS	Fetal Lung	lung
37	chr4:128981400-128983400	Active TSS	Fetal Muscle Trunk	muscle
38	chr4:128981400-128983400	Active TSS	Fetal Thymus	thymus
39	chr4:128981400-128983400	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr4:128981400-128983400	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr4:128981400-128983400	Active TSS	Thymus	Thymus
42	chr4:128981400-128983600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:128981400-128983600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:128981400-128983600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:128981400-128983600	Active TSS	Brain Anterior Caudate	brain
46	chr4:128981400-128983800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:128981400-128983800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:128981400-128983800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:128981400-128983800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:128981400-128983800	Active TSS	Esophagus	oesophagus

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