Variant report

Variant	rs17428012
Chromosome Location	chr7:27250377-27250378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27249734..27250431-chr7:27274620..27275568,2	MCF-7	breast:
2	chr7:27235576..27236377-chr7:27249896..27250620,2	MCF-7	breast:
3	chr7:27249606..27250450-chr7:28135997..28136804,2	MCF-7	breast:
4	chr7:27249622..27250574-chr7:27645090..27645963,4	MCF-7	breast:
5	chr7:27249986..27250600-chr7:27615474..27616239,2	K562	blood:
6	chr7:27249674..27250599-chr7:27615679..27616498,4	MCF-7	breast:
7	chr7:27249641..27250652-chr7:28059662..28060583,3	K562	blood:

Variant related genes	Relation type
ENSG00000153814	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11564044	1.00[ASN][1000 genomes]
rs11761572	1.00[ASN][1000 genomes]
rs11762186	1.00[ASN][1000 genomes]
rs11764246	1.00[ASN][1000 genomes]
rs11766354	1.00[ASN][1000 genomes]
rs11767145	1.00[ASN][1000 genomes]
rs11767850	1.00[ASN][1000 genomes]
rs11768223	1.00[ASN][1000 genomes]
rs11971150	1.00[ASN][1000 genomes]
rs11973735	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975202	1.00[ASN][1000 genomes]
rs11977099	1.00[ASN][1000 genomes]
rs11983008	1.00[ASN][1000 genomes]
rs11983027	1.00[ASN][1000 genomes]
rs17427421	1.00[ASN][1000 genomes]
rs17428025	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17428046	1.00[ASN][1000 genomes]
rs17428116	1.00[ASN][1000 genomes]
rs17428157	1.00[ASN][1000 genomes]
rs17428240	1.00[ASN][1000 genomes]
rs17428254	1.00[ASN][1000 genomes]
rs17428988	1.00[ASN][1000 genomes]
rs17429051	1.00[ASN][1000 genomes]
rs17429557	1.00[ASN][1000 genomes]
rs17429691	1.00[ASN][1000 genomes]
rs17429719	1.00[ASN][1000 genomes]
rs17429726	1.00[ASN][1000 genomes]
rs17437495	1.00[CEU][hapmap]
rs17437657	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17437775	1.00[ASN][1000 genomes]
rs17437824	1.00[ASN][1000 genomes]
rs17438403	1.00[ASN][1000 genomes]
rs17438410	1.00[ASN][1000 genomes]
rs17439165	1.00[ASN][1000 genomes]
rs17439312	1.00[ASN][1000 genomes]
rs17439333	1.00[ASN][1000 genomes]
rs17472756	1.00[ASN][1000 genomes]
rs17472763	1.00[ASN][1000 genomes]
rs17472892	1.00[ASN][1000 genomes]
rs17472962	1.00[ASN][1000 genomes]
rs17501111	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502037	1.00[ASN][1000 genomes]
rs2189239	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28357135	1.00[ASN][1000 genomes]
rs35786897	1.00[ASN][1000 genomes]
rs4722669	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59133852	1.00[ASN][1000 genomes]
rs60356285	1.00[ASN][1000 genomes]
rs6461996	1.00[ASN][1000 genomes]
rs6948488	1.00[ASN][1000 genomes]
rs6951363	1.00[ASN][1000 genomes]
rs6965319	1.00[ASN][1000 genomes]
rs6977425	1.00[ASN][1000 genomes]
rs7783517	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
4	nsv824038	chr7:27119294-27284522	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
5	nsv824039	chr7:27121825-27294951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824040	chr7:27121870-27295010	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887867	chr7:27127231-27252246	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
8	nsv824041	chr7:27128039-27294951	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
9	nsv887869	chr7:27135314-27297791	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
10	nsv1020608	chr7:27139892-27324004	Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
11	nsv538807	chr7:27139892-27324004	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
12	nsv532118	chr7:27146920-27354205	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
13	nsv887879	chr7:27175295-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
14	esv1798853	chr7:27181568-27309266	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	150 gene(s)	inside rSNPs	diseases
15	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
16	nsv606468	chr7:27202289-27281304	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
17	nsv887880	chr7:27205282-27294701	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
18	nsv887881	chr7:27205282-27297791	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv887884	chr7:27206688-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
20	nsv1026327	chr7:27207777-27288521	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
21	nsv538808	chr7:27207777-27288521	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
22	nsv887885	chr7:27208018-27274634	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
23	nsv887886	chr7:27215041-27297791	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
24	nsv887887	chr7:27217359-27252246	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
25	nsv887888	chr7:27217746-27281157	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
26	nsv887889	chr7:27220831-27297791	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
27	nsv887890	chr7:27221137-27274634	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
28	nsv887891	chr7:27223563-27264337	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
29	nsv887892	chr7:27223563-27297791	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
30	nsv519583	chr7:27243962-27298264	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27245800-27253000	Weak transcription	Gastric	stomach
2	chr7:27249400-27251000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
3	chr7:27249400-27251000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
4	chr7:27249600-27250600	Active TSS	Rectal Smooth Muscle	rectum
5	chr7:27249600-27251000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:27249800-27250600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:27249800-27250600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:27249800-27250800	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr7:27250000-27250400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:27250000-27250400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
11	chr7:27250000-27250400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:27250000-27250400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:27250000-27250400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:27250000-27250400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:27250000-27250400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
16	chr7:27250000-27250400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
17	chr7:27250000-27250400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chr7:27250000-27250400	Active TSS	A549	lung
19	chr7:27250000-27250400	Active TSS	Osteobl	bone
20	chr7:27250000-27250600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:27250000-27250600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr7:27250000-27250600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
23	chr7:27250000-27250800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
24	chr7:27250000-27251000	Enhancers	Pancreas	Pancrea
25	chr7:27250200-27250400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:27250200-27250400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr7:27250200-27250400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:27250200-27250400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
32	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
33	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
34	chr7:27250200-27250400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
36	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
37	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
39	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
42	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
43	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:27250200-27250400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
50	chr7:27250200-27250400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain

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