Variant report

Variant	esv1838939
Chromosome Location	chr4:128981336-128983211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:673)
CpG islands
(count:366)
Chromatin interactive
region (count:36)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:128981911-128982070	K562	blood:	n/a	n/a
2	ARID3A	chr4:128981543-128982598	HepG2	liver:	n/a	n/a
3	ATF2	chr4:128982074-128982372	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr4:128982261-128982629	GM12878	blood:	n/a	n/a
5	BACH1	chr4:128982219-128982529	H1-hESC	embryonic stem cell:	n/a	n/a
6	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
7	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
8	BCLAF1	chr4:128982700-128983596	GM12878	blood:	n/a	chr4:128983023-128983036 chr4:128983286-128983295 chr4:128983261-128983274 chr4:128982948-128982961
9	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
10	BCLAF1	chr4:128983180-128983608	GM12878	blood:	n/a	chr4:128983286-128983295 chr4:128983261-128983274
11	BHLHE40	chr4:128983066-128983096	K562	blood:	n/a	n/a
12	BHLHE40	chr4:128981630-128982643	HepG2	liver:	n/a	chr4:128982345-128982361 chr4:128982410-128982426 chr4:128981962-128981978 chr4:128982321-128982337
13	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
14	BHLHE40	chr4:128981762-128982726	K562	blood:	n/a	chr4:128982345-128982361 chr4:128982410-128982426 chr4:128981962-128981978 chr4:128982321-128982337
15	BRCA1	chr4:128982124-128982545	GM12878	blood:	n/a	n/a
16	BRCA1	chr4:128981582-128982559	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr4:128981937-128982575	HepG2	liver:	n/a	n/a
18	BRCA1	chr4:128982144-128982530	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr4:128982927-128982934	HepG2	liver:	n/a	n/a
20	CBX3	chr4:128981716-128982568	K562	blood:	n/a	n/a
21	CBX3	chr4:128982070-128982300	K562	blood:	n/a	n/a
22	CBX3	chr4:128983157-128983733	K562	blood:	n/a	n/a
23	CCNT2	chr4:128981845-128983664	K562	blood:	n/a	n/a
24	CEBPB	chr4:128982290-128982569	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr4:128981764-128982617	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr4:128981746-128981955	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr4:128981890-128982576	HepG2	liver:	n/a	n/a
28	CEBPD	chr4:128982361-128982731	HepG2	liver:	n/a	n/a
29	CEBPD	chr4:128982442-128982617	HepG2	liver:	n/a	n/a
30	CEBPD	chr4:128981991-128982475	K562	blood:	n/a	n/a
31	CEBPD	chr4:128981823-128982353	HepG2	liver:	n/a	n/a
32	CHD1	chr4:128981776-128983732	GM12878	blood:	n/a	chr4:128982482-128982492 chr4:128983028-128983038
33	CHD1	chr4:128982922-128982925	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr4:128981560-128982333	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr4:128982906-128983044	K562	blood:	n/a	chr4:128983028-128983038
36	CHD2	chr4:128981807-128983048	GM12878	blood:	n/a	chr4:128982482-128982492 chr4:128983028-128983038
37	CHD2	chr4:128981756-128982572	H1-hESC	embryonic stem cell:	n/a	chr4:128982482-128982492
38	CHD2	chr4:128981858-128982740	HepG2	liver:	n/a	chr4:128982482-128982492
39	CHD2	chr4:128981898-128982616	K562	blood:	n/a	chr4:128982482-128982492
40	CHD2	chr4:128981759-128983627	Hela-S3	cervix:	n/a	chr4:128982482-128982492 chr4:128983028-128983038
41	CREB1	chr4:128982013-128982721	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr4:128982246-128982510	A549	lung:	n/a	n/a
43	CREB1	chr4:128981751-128982762	A549	lung:	n/a	n/a
44	CREB1	chr4:128982013-128982755	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr4:128982169-128982610	ECC-1	luminal epithelium:	n/a	n/a
46	CREB1	chr4:128981774-128982915	GM12878	blood:	n/a	n/a
47	CREB1	chr4:128981959-128983235	K562	blood:	n/a	n/a
48	CREB1	chr4:128981742-128983776	HepG2	liver:	n/a	n/a
49	CREB1	chr4:128981890-128982757	K562	blood:	n/a	n/a
50	CTBP2	chr4:128981827-128983736	H1-hESC	embryonic stem cell:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:128981486-128981536	GM12891	blood:	n/a
2	chr4:128982446-128982496	SKMC	muscle:	n/a
3	chr4:128981985-128982035	SK-N-SH_RA	brain:	n/a
4	chr4:128982462-128982512	HIPEpiC	eye:	n/a
5	chr4:128982454-128982504	MCF10A-Er-Src	breast:	n/a
6	chr4:128982454-128982504	SAEC	small airway:	n/a
7	chr4:128982454-128982504	SKMC	muscle:	n/a
8	chr4:128982454-128982504	NH-A	brain:	n/a
9	chr4:128981918-128981968	GM19239	blood:	n/a
10	chr4:128982446-128982496	HAEpiC	amniotic membrane:	n/a
11	chr4:128981918-128981968	GM12878	blood:	n/a
12	chr4:128982454-128982504	SK-N-SH	brain:	n/a
13	chr4:128982446-128982496	NT2-D1	testis:	n/a
14	chr4:128982446-128982496	ProgFib	skin:	n/a
15	chr4:128982446-128982496	CMK	blood:	n/a
16	chr4:128982454-128982504	AoSMC	blood vessel:	n/a
17	chr4:128982446-128982496	HEK293	kidney:	embryo
18	chr4:128981985-128982035	AG09309	skin:	n/a
19	chr4:128981985-128982035	Jurkat	blood:	n/a
20	chr4:128982454-128982504	BE2_C	brain:	n/a
21	chr4:128982446-128982496	HPAEpiC	pulmonary alveolar:	n/a
22	chr4:128982446-128982496	NB4	blood:	n/a
23	chr4:128981486-128981536	AG09309	skin:	n/a
24	chr4:128982462-128982512	SK-N-SH	brain:	n/a
25	chr4:128981486-128981536	A549	lung:	n/a
26	chr4:128981985-128982035	AG09319	gingival:	n/a
27	chr4:128981985-128982035	PFSK-1	brain:	n/a
28	chr4:128982454-128982504	GM06990	blood:	n/a
29	chr4:128982462-128982512	HAEpiC	amniotic membrane:	n/a
30	chr4:128982454-128982504	HCM	heart:	n/a
31	chr4:128981985-128982035	BJ	skin:	n/a
32	chr4:128982462-128982512	HepG2	liver:	n/a
33	chr4:128982454-128982504	HRE	kidney:	n/a
34	chr4:128981918-128981968	A549	lung:	n/a
35	chr4:128981985-128982035	NHDF-neo	bronchial:	n/a
36	chr4:128981486-128981536	AG09319	gingival:	n/a
37	chr4:128981486-128981536	PrEC	prostate:	n/a
38	chr4:128982462-128982512	K562	blood:	n/a
39	chr4:128981486-128981536	HMEC	breast:	n/a
40	chr4:128982454-128982504	GM12891	blood:	n/a
41	chr4:128981486-128981536	Jurkat	blood:	n/a
42	chr4:128981918-128981968	HUVEC	blood vessel:	n/a
43	chr4:128982462-128982512	Jurkat	blood:	n/a
44	chr4:128982462-128982512	MCF-7	breast:	n/a
45	chr4:128981918-128981968	HRCEpiC	kidney:	n/a
46	chr4:128981486-128981536	BJ	skin:	n/a
47	chr4:128981918-128981968	SAEC	small airway:	n/a
48	chr4:128982454-128982504	ProgFib	skin:	n/a
49	chr4:128981486-128981536	HRCEpiC	kidney:	n/a
50	chr4:128981985-128982035	SK-N-SH	brain:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:128884064..128888795-chr4:128980591..128984632,7	MCF-7	breast:
2	chr2:85132320..85133212-chr4:128982045..128982946,2	Hela-S3	cervix:
3	chr4:128981725..128985397-chr4:129207989..129209697,3	K562	blood:
4	chr4:128980795..128982891-chr4:129730267..129732892,3	K562	blood:
5	chr4:128701934..128705815-chr4:128979420..128984468,5	K562	blood:
6	chr4:128885127..128890546-chr4:128980550..128983845,11	K562	blood:
7	chr4:128982778..128984793-chr4:129000011..129002155,2	K562	blood:
8	chr4:128980795..128984031-chr4:129730059..129735028,7	K562	blood:
9	chr12:104324118..104324690-chr4:128981820..128982436,2	Hela-S3	cervix:
10	chr4:128884518..128888041-chr4:128980422..128985043,7	MCF-7	breast:
11	chr4:128553197..128555974-chr4:128981706..128984336,2	K562	blood:
12	chr4:128981936..128982808-chrX:48754752..48755652,2	Hela-S3	cervix:
13	chr4:128884948..128891801-chr4:128980633..128984811,17	K562	blood:
14	chr4:128981378..128983346-chr4:128988931..128991317,2	MCF-7	breast:
15	chr4:128800672..128803742-chr4:128979765..128985676,12	K562	blood:
16	chr1:110577159..110578119-chr4:128981949..128982607,2	Hela-S3	cervix:
17	chr4:128593863..128595593-chr4:128981619..128984198,2	K562	blood:
18	chr17:79478887..79479404-chr4:128982377..128982993,2	HCT-116	colon:
19	chr4:128978832..128981419-chr4:128985568..128987375,3	MCF-7	breast:
20	chr4:128800019..128803742-chr4:128979765..128984325,9	K562	blood:
21	chr15:45003006..45003782-chr4:128982373..128982889,2	Hela-S3	cervix:
22	chr4:128869172..128872005-chr4:128982512..128984948,2	K562	blood:
23	chr4:128981817..128983526-chr4:129043171..129045384,2	MCF-7	breast:
24	chr11:61129378..61130089-chr4:128981023..128981777,2	Hela-S3	cervix:
25	chr4:128980667..128982380-chr4:129732444..129734327,2	MCF-7	breast:
26	chr4:128702147..128704685-chr4:128980177..128982661,2	MCF-7	breast:
27	chr4:128981661..128982334-chr6:130031273..130031967,2	NB4	blood:
28	chr16:67217539..67218173-chr4:128981980..128982888,2	Hela-S3	cervix:
29	chr19:14229250..14230220-chr4:128982049..128982904,2	NB4	blood:
30	chr4:128981698..128985397-chr4:129207989..129210555,4	K562	blood:
31	chr4:128701934..128705815-chr4:128979420..128985014,7	K562	blood:
32	chr4:128869172..128871004-chr4:128982512..128984743,2	K562	blood:
33	chr4:128980817..128984026-chr4:129207052..129210590,3	MCF-7	breast:
34	chr4:128980375..128984020-chr4:128989687..128993521,7	MCF-7	breast:
35	chr4:128894792..128897559-chr4:128980082..128981594,2	K562	blood:
36	chr4:128980866..128984600-chr4:128984636..128991176,13	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MFSD8-7	chr4:128981059-128981632	NONHSAT098254

No data

Variant related genes	Relation type
LARP1B	TF binding region
LARP1B	CpG island
ENSG00000146376	chromatin interactions
ENSG00000162144	chromatin interactions
ENSG00000102103	chromatin interactions
ENSG00000265072	chromatin interactions
ENSG00000164070	chromatin interactions
ENSG00000149483	chromatin interactions
ENSG00000166598	chromatin interactions
ENSG00000034510	chromatin interactions
ENSG00000196123	chromatin interactions
ENSG00000164066	chromatin interactions
ENSG00000184009	chromatin interactions
ENSG00000241651	chromatin interactions
ENSG00000267783	chromatin interactions
ENSG00000143093	chromatin interactions
ENSG00000077684	chromatin interactions
ENSG00000164040	chromatin interactions
ENSG00000126768	chromatin interactions
ENSG00000229474	chromatin interactions
ENSG00000164073	chromatin interactions
ENSG00000138709	chromatin interactions
ENSG00000164074	chromatin interactions
ENSG00000166710	chromatin interactions
ENSG00000142731	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4834224	chr4:128981336-128981337	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141949339	chr4:128981447-128981448	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
3	rs201451741	chr4:128981474-128981475	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
4	rs367832911	chr4:128981477-128981478	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
5	rs567442107	chr4:128981488-128981489	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
6	rs368071781	chr4:128981495-128981496	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
7	rs189040993	chr4:128981504-128981505	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
8	rs368219092	chr4:128981561-128981562	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
9	rs557946219	chr4:128981582-128981583	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
10	rs528780748	chr4:128981589-128981590	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
11	rs546841617	chr4:128981619-128981620	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
12	rs571164566	chr4:128981678-128981679	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs538668075	chr4:128981684-128981685	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs193141118	chr4:128981700-128981701	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs568962133	chr4:128981736-128981737	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs150677324	chr4:128981744-128981745	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs554821132	chr4:128981755-128981756	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs573049464	chr4:128981785-128981786	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs540537968	chr4:128981872-128981873	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs17012899	chr4:128981893-128981894	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs577056014	chr4:128981896-128981897	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs545411212	chr4:128981909-128981910	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs574211039	chr4:128981928-128981929	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs563515416	chr4:128981941-128981942	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs530925380	chr4:128981954-128981955	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs565829378	chr4:128982027-128982028	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs534619738	chr4:128982061-128982062	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
28	rs542682441	chr4:128982085-128982086	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
29	rs561147569	chr4:128982097-128982098	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	rs372435409	chr4:128982751-128982752	Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs557345535	chr4:128982757-128982758	Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	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
46	rs542721148	chr4:128982797-128982798	Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs560999362	chr4:128982798-128982799	Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	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
49	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
50	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

Variant related diseases (count:73)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128951400-128981800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:128976200-128981400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:128979200-128981400	Weak transcription	Right Atrium	heart
4	chr4:128980200-128981800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:128981000-128981400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:128981000-128981400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:128981000-128981400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr4:128981000-128981400	Enhancers	Pancreas	Pancrea
9	chr4:128981000-128981600	Flanking Active TSS	Dnd41	blood
10	chr4:128981000-128982800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:128981000-128983200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr4:128981000-128983600	Active TSS	Liver	Liver
13	chr4:128981000-128983800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:128981000-128984400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:128981000-128984400	Active TSS	Duodenum Mucosa	Duodenum
16	chr4:128981000-128984400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr4:128981000-128984400	Active TSS	Rectal Smooth Muscle	rectum
18	chr4:128981200-128981400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr4:128981200-128981400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:128981200-128981400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:128981200-128981400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr4:128981200-128981400	Enhancers	Primary B cells from cord blood	blood
23	chr4:128981200-128981400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr4:128981200-128981400	Enhancers	Primary hematopoietic stem cells	blood
25	chr4:128981200-128981400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:128981200-128981400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:128981200-128981400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr4:128981200-128981400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:128981200-128981400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:128981200-128981400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr4:128981200-128981400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:128981200-128981400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:128981200-128981400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:128981200-128981400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr4:128981200-128981400	Enhancers	Brain Substantia Nigra	brain
36	chr4:128981200-128981400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr4:128981200-128981400	Enhancers	Fetal Muscle Leg	muscle
38	chr4:128981200-128981400	Flanking Active TSS	HepG2	liver
39	chr4:128981200-128981400	Enhancers	HUVEC	blood vessel
40	chr4:128981200-128981400	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr4:128981200-128981400	Flanking Active TSS	NHDF-Ad	bronchial
42	chr4:128981200-128981400	Enhancers	NHLF	lung
43	chr4:128981200-128981600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr4:128981200-128981600	Enhancers	Primary B cells from peripheral blood	blood
45	chr4:128981200-128981600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr4:128981200-128981600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:128981200-128981600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr4:128981200-128981600	Enhancers	Fetal Heart	heart
49	chr4:128981200-128981600	Flanking Active TSS	Placenta	Placenta
50	chr4:128981200-128981600	Active TSS	Stomach Smooth Muscle	stomach

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