Variant report

Variant	rs2780422
Chromosome Location	chr4:28358-28359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:28180..30442-chr4:236557..238318,2	MCF-7	breast:
2	chr4:26589..30670-chr4:53416..55763,3	K562	blood:
3	chr4:27510..30529-chr4:49071..53296,4	K562	blood:
4	chr4:27510..29241-chr4:49071..51866,2	K562	blood:

Variant related genes	Relation type
ENSG00000248302	Chromatin interaction
ENSG00000197701	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003003	chr4:25701-36756	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv967713	chr4:25701-42727	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1007865	chr4:25701-43112	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001847	chr4:25701-43671	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1004420	chr4:25701-43880	ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1010080	chr4:25701-43880	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv997758	chr4:25701-45410	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv1007239	chr4:25701-45410	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1007021	chr4:25701-46448	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv1010913	chr4:25701-46822	Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv1006203	chr4:25701-47087	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv1008424	chr4:25701-47087	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv1004164	chr4:25701-49203	Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1012666	chr4:25701-51416	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1007601	chr4:25701-51506	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1014360	chr4:25701-51506	Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv1004235	chr4:25701-52378	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	esv2762379	chr4:25701-52390	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv999411	chr4:25701-59060	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1004818	chr4:25701-59060	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv1004981	chr4:25701-59060	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv1006971	chr4:25701-59060	Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv999966	chr4:25701-61763	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
24	nsv997664	chr4:25701-61924	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv1008332	chr4:25701-61981	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv998790	chr4:25701-62114	ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
27	nsv1000292	chr4:25701-62114	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
28	nsv1006094	chr4:25701-62114	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
29	nsv1011225	chr4:25701-62114	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	nsv821633	chr4:25701-64931	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	nsv1002318	chr4:25701-65749	ZNF genes & repeats Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
32	nsv1001348	chr4:25701-65966	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
33	nsv1004445	chr4:25701-65966	ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
34	nsv1005648	chr4:25701-65966	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
35	nsv1005787	chr4:25701-65966	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
36	nsv1014322	chr4:25701-65966	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
37	esv2762380	chr4:25701-65978	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
38	nsv1001668	chr4:25701-66707	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
39	nsv1009854	chr4:25701-66707	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
40	nsv1011030	chr4:25701-66707	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
41	nsv1011925	chr4:25701-66707	ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
42	nsv1014303	chr4:25701-66707	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
43	nsv1014489	chr4:25701-66707	Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
44	esv2762381	chr4:25701-66719	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
45	esv2762382	chr4:25701-66719	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
46	esv2762383	chr4:25701-66719	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
47	esv2762384	chr4:25701-66719	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
48	esv2762385	chr4:25701-66719	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
49	esv2762386	chr4:25701-66719	Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
50	esv2762387	chr4:25701-66719	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:27200-28800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr4:27200-29200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:27200-30200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr4:27400-29600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:27400-29600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr4:27400-29600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
7	chr4:27400-30000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:27600-29200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:27600-29400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:27600-29600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:27600-30000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:27600-30200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:27800-29400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr4:28000-30000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:28200-28800	Enhancers	Dnd41	blood
16	chr4:28200-29600	Bivalent Enhancer	Adipose Nuclei	Adipose

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