Variant report

Variant	esv3365960
Chromosome Location	chr4:674402-676900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:305)
CpG islands
(count:369)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:674890-675090	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr4:675016-675393	GM12878	blood:	n/a	n/a
3	BHLHE40	chr4:675165-675801	HepG2	liver:	n/a	n/a
4	BHLHE40	chr4:674775-675813	K562	blood:	n/a	n/a
5	BRCA1	chr4:675765-675805	HepG2	liver:	n/a	n/a
6	CBX3	chr4:674721-675247	K562	blood:	n/a	n/a
7	CCNT2	chr4:675551-675973	K562	blood:	n/a	n/a
8	CCNT2	chr4:674783-675232	K562	blood:	n/a	chr4:675191-675200 chr4:675126-675135
9	CEBPD	chr4:675548-675845	HepG2	liver:	n/a	n/a
10	CHD2	chr4:674480-674925	GM12878	blood:	n/a	n/a
11	CHD2	chr4:675075-675208	K562	blood:	n/a	n/a
12	CHD2	chr4:675593-675779	HepG2	liver:	n/a	n/a
13	CHD2	chr4:674512-674707	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr4:676849-676935	HepG2	liver:	n/a	n/a
15	CHD2	chr4:675586-675761	K562	blood:	n/a	n/a
16	CHD2	chr4:674681-674754	K562	blood:	n/a	n/a
17	CTBP2	chr4:674238-675244	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr4:676060-676210	K562	blood:	n/a	n/a
19	CTCF	chr4:676520-676670	SAEC	small airway:	n/a	n/a
20	CTCF	chr4:675785-675790	K562	blood:	n/a	n/a
21	CTCF	chr4:676589-676699	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr4:676440-676590	SAEC	small airway:	n/a	n/a
23	CTCF	chr4:676533-676701	MCF-7	breast:	n/a	n/a
24	CTCF	chr4:676520-676670	MCF-7	breast:	n/a	n/a
25	CTCF	chr4:676547-676694	NHEK	skin:	n/a	n/a
26	CTCF	chr4:676580-676730	K562	blood:	n/a	n/a
27	CTCF	chr4:676600-676750	Caco-2	colon:	n/a	n/a
28	CTCF	chr4:676520-676670	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr4:676558-676662	MCF-7	breast:	n/a	n/a
30	CTCF	chr4:676549-676688	MCF-7	breast:	n/a	n/a
31	CTCF	chr4:676585-676614	LNCaP	prostate:	n/a	n/a
32	CTCF	chr4:676658-676666	GM19239	blood:	n/a	n/a
33	CTCF	chr4:676554-676688	MCF-7	breast:	n/a	n/a
34	CTCF	chr4:676520-676670	GM12868	blood:	n/a	n/a
35	CTCF	chr4:676500-676650	HepG2	liver:	n/a	n/a
36	CTCF	chr4:676632-676653	GM19239	blood:	n/a	n/a
37	CTCF	chr4:676578-676632	MCF-7	breast:	n/a	n/a
38	CTCF	chr4:675092-675182	K562	blood:	n/a	n/a
39	CUX1	chr4:675701-675786	K562	blood:	n/a	n/a
40	E2F6	chr4:675268-675379	K562	blood:	n/a	n/a
41	E2F6	chr4:674399-674642	K562	blood:	n/a	n/a
42	E2F6	chr4:674832-675009	K562	blood:	n/a	n/a
43	E2F6	chr4:674467-675822	K562	blood:	n/a	chr4:675576-675585
44	E2F6	chr4:674728-675412	H1-hESC	embryonic stem cell:	n/a	n/a
45	E2F6	chr4:674754-675096	K562	blood:	n/a	n/a
46	E2F6	chr4:675528-675688	K562	blood:	n/a	chr4:675576-675585
47	E2F6	chr4:675108-675393	K562	blood:	n/a	n/a
48	EBF1	chr4:674312-674528	GM12878	blood:	n/a	n/a
49	EGR1	chr4:674736-675002	K562	blood:	n/a	chr4:674965-674975
50	EGR1	chr4:675527-675812	K562	blood:	n/a	n/a

(count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:674590-674640	GM12891	blood:	n/a
2	chr4:675137-675187	NH-A	brain:	n/a
3	chr4:674399-674449	MCF10A-Er-Src	breast:	n/a
4	chr4:674590-674640	GM12891	blood:	n/a
5	chr4:675137-675187	NH-A	brain:	n/a
6	chr4:674399-674449	MCF10A-Er-Src	breast:	n/a
7	chr4:674399-674449	SK-N-MC	brain:	n/a
8	chr4:674590-674640	SAEC	small airway:	n/a
9	chr4:675264-675314	Hepatocyte	liver:	n/a
10	chr4:675137-675187	NHDF-neo	bronchial:	n/a
11	chr4:674399-674449	SK-N-SH_RA	brain:	n/a
12	chr4:675827-675877	ovcar-3	ovarian:	n/a
13	chr4:675827-675877	GM12878	blood:	n/a
14	chr4:675137-675187	BJ	skin:	n/a
15	chr4:674590-674640	GM19239	blood:	n/a
16	chr4:674399-674449	AG04449	skin:	fetal
17	chr4:675827-675877	H1-hESC	embryonic stem cell:	embryo
18	chr4:675827-675877	HAEpiC	amniotic membrane:	n/a
19	chr4:675264-675314	HCF	heart:	n/a
20	chr4:675936-675986	AG09319	gingival:	n/a
21	chr4:674590-674640	ovcar-3	ovarian:	n/a
22	chr4:674399-674449	GM06990	blood:	n/a
23	chr4:675827-675877	GM19239	blood:	n/a
24	chr4:675936-675986	HNPCEpiC	eye:	n/a
25	chr4:675137-675187	U87	brain:	n/a
26	chr4:675137-675187	ProgFib	skin:	n/a
27	chr4:674590-674640	Hepatocyte	liver:	n/a
28	chr4:675827-675877	NT2-D1	testis:	n/a
29	chr4:675827-675877	LNCaP	prostate:	n/a
30	chr4:675264-675314	H1-hESC	embryonic stem cell:	embryo
31	chr4:675936-675986	HIPEpiC	eye:	n/a
32	chr4:674399-674449	HPAEpiC	pulmonary alveolar:	n/a
33	chr4:675264-675314	SK-N-SH	brain:	n/a
34	chr4:675264-675314	Jurkat	blood:	n/a
35	chr4:675264-675314	GM12878	blood:	n/a
36	chr4:674399-674449	ECC-1	luminal epithelium:	n/a
37	chr4:675137-675187	AG09319	gingival:	n/a
38	chr4:674399-674449	BJ	skin:	n/a
39	chr4:674590-674640	AG09309	skin:	n/a
40	chr4:675827-675877	HCF	heart:	n/a
41	chr4:674399-674449	AG09309	skin:	n/a
42	chr4:675137-675187	RPTEC	kidney:	n/a
43	chr4:674399-674449	HCF	heart:	n/a
44	chr4:674590-674640	Jurkat	blood:	n/a
45	chr4:674590-674640	GM12892	blood:	n/a
46	chr4:674590-674640	CMK	blood:	n/a
47	chr4:675936-675986	HRPEpiC	eye:	n/a
48	chr4:674399-674449	NB4	blood:	n/a
49	chr4:675137-675187	T-47D	breast:	n/a
50	chr4:675827-675877	SKMC	muscle:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:674880..677107-chr4:756612..759495,2	MCF-7	breast:
2	chr4:675556..677159-chr4:698083..699991,3	K562	blood:
3	chr4:676665..678660-chr4:1340906..1343880,2	MCF-7	breast:
4	chr4:676118..678375-chr4:722491..724316,2	K562	blood:
5	chr4:672883..676399-chr4:697081..701106,5	MCF-7	breast:
6	chr4:675798..677554-chr4:822582..825253,2	K562	blood:
7	chr4:646528..649301-chr4:675021..676814,2	MCF-7	breast:
8	chr4:658187..662144-chr4:672176..676426,5	MCF-7	breast:
9	chr4:595977..599927-chr4:674651..678190,4	MCF-7	breast:
10	chr4:675173..676793-chr4:777348..779688,2	MCF-7	breast:
11	chr4:675536..678279-chr4:719522..721602,2	K562	blood:
12	chr4:671080..676330-chr4:771868..776883,7	K562	blood:
13	chr4:675712..677367-chr4:684331..686436,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP5I-3	chr4:675619-676147	NONHSAT094601

No data

Variant related genes	Relation type
MYL5	TF binding region
MYL5	CpG island
ENSG00000249592	chromatin interactions
ENSG00000133256	chromatin interactions
ENSG00000163945	chromatin interactions
ENSG00000233799	chromatin interactions
ENSG00000242686	chromatin interactions
ENSG00000185619	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369753150	chr4:674411-674412	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs372773220	chr4:674412-674413	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs575949561	chr4:674428-674429	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs558121750	chr4:674431-674432	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs543001242	chr4:674442-674443	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs561375949	chr4:674608-674609	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs528950538	chr4:674609-674610	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs112581443	chr4:674637-674638	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs111954963	chr4:674671-674672	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs559405944	chr4:674680-674681	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs527832623	chr4:674689-674690	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs552759390	chr4:674701-674702	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs188598484	chr4:674745-674746	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs532077952	chr4:674760-674761	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs550197682	chr4:674785-674786	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs568509248	chr4:674788-674789	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs373344081	chr4:674804-674805	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs377299244	chr4:674839-674840	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs377520069	chr4:674886-674887	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs201359022	chr4:674892-674893	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs368752319	chr4:674919-674920	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs3208632	chr4:674923-674924	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs3208631	chr4:674928-674929	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs553930016	chr4:674941-674942	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs571979491	chr4:674947-674948	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs372694129	chr4:674950-674951	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs200832141	chr4:674961-674962	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs539226601	chr4:675019-675020	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs557968992	chr4:675034-675035	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs575910949	chr4:675101-675102	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs543358315	chr4:675146-675147	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs554932058	chr4:675170-675171	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs113758338	chr4:675204-675205	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs138857123	chr4:675260-675261	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
35	rs373123077	chr4:675281-675282	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs541021398	chr4:675286-675287	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs559155636	chr4:675295-675296	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs192959671	chr4:675401-675402	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
39	rs546064245	chr4:675414-675415	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs564697156	chr4:675415-675416	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs532035558	chr4:675423-675424	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs550456962	chr4:675548-675549	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs185374308	chr4:675549-675550	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs529244517	chr4:675608-675609	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs377467494	chr4:675616-675617	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs370625380	chr4:675621-675622	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
47	rs76573953	chr4:675625-675626	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
48	rs114410634	chr4:675646-675647	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
49	rs369359939	chr4:675669-675670	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
50	rs551285938	chr4:675673-675674	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:669400-674600	Enhancers	Placenta	Placenta
2	chr4:669400-674600	Weak transcription	HUVEC	blood vessel
3	chr4:669600-674600	Weak transcription	Left Ventricle	heart
4	chr4:669600-674600	Weak transcription	Small Intestine	intestine
5	chr4:669800-674600	Weak transcription	Brain Anterior Caudate	brain
6	chr4:669800-674600	Weak transcription	Brain Substantia Nigra	brain
7	chr4:670000-674600	Weak transcription	Liver	Liver
8	chr4:670200-674600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:670400-674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:670800-674600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:672000-674600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:672200-674600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:672600-674600	Weak transcription	NHEK	skin
14	chr4:673000-674600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:673200-674600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:673200-675400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
17	chr4:673600-677400	Enhancers	Spleen	Spleen
18	chr4:673800-674800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr4:674000-674600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr4:674000-674600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:674000-674600	Enhancers	Duodenum Mucosa	Duodenum
22	chr4:674000-674600	Enhancers	HSMMtube	muscle
23	chr4:674000-674600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr4:674000-675000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:674000-675200	Enhancers	Primary hematopoietic stem cells	blood
26	chr4:674000-675200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:674000-675800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:674000-675800	Enhancers	Lung	lung
29	chr4:674200-674600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:674200-674600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr4:674200-674600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:674200-674600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr4:674200-674600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr4:674200-674600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:674200-674600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:674200-674600	Enhancers	Adipose Nuclei	Adipose
37	chr4:674200-674600	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr4:674200-674600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
39	chr4:674200-674600	Enhancers	K562	blood
40	chr4:674200-674600	Enhancers	NH-A	brain
41	chr4:674200-674600	Enhancers	Osteobl	bone
42	chr4:674200-674800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr4:674200-674800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr4:674200-674800	Enhancers	Primary B cells from cord blood	blood
45	chr4:674200-675000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr4:674200-675000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr4:674200-675000	Flanking Active TSS	Colonic Mucosa	Colon
48	chr4:674200-675200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:674200-675200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:674200-675200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links