Variant report

Variant	rs12532677
Chromosome Location	chr7:64018716-64018717
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:64005760..64007367-chr7:64017658..64019309,2	MCF-7	breast:
2	chr7:64016939..64018554-chr7:64018673..64020175,2	MCF-7	breast:
3	chr7:64009701..64014625-chr7:64017586..64022648,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223974	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12532993	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12533598	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534080	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534405	0.90[ASN][1000 genomes]
rs12534534	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12534909	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12666005	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12669607	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12670032	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12672476	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138865	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17545405	1.00[ASN][1000 genomes]
rs34095496	1.00[ASN][1000 genomes]
rs4364519	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717197	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4718081	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4718088	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56940001	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429759	chr7:63662150-64110550	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv429760	chr7:63687850-64110550	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv429761	chr7:63747498-64096138	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
7	nsv429762	chr7:63790450-64110550	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
9	nsv1031703	chr7:63839601-64225952	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv1023042	chr7:63956027-64116232	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv970855	chr7:63959414-64023731	ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
15	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
16	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
17	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
18	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
19	nsv1021893	chr7:63995601-64155027	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
20	nsv538892	chr7:63995601-64155027	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63974400-64020000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:63978200-64022200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:63989200-64022600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:63989400-64019400	Weak transcription	HUVEC	blood vessel
5	chr7:63989400-64023000	Weak transcription	Gastric	stomach
6	chr7:63994200-64022600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:63997600-64022600	Weak transcription	Fetal Kidney	kidney
8	chr7:64000400-64022800	Weak transcription	Small Intestine	intestine
9	chr7:64002400-64018800	Weak transcription	Right Atrium	heart
10	chr7:64002400-64022600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:64002400-64022800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:64002600-64018800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:64002600-64019200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:64002600-64022400	Weak transcription	HMEC	breast
15	chr7:64003000-64019200	Weak transcription	NHDF-Ad	bronchial
16	chr7:64003400-64021400	Weak transcription	Spleen	Spleen
17	chr7:64004000-64021800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:64004200-64020600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:64004800-64022600	Weak transcription	Fetal Lung	lung
20	chr7:64007400-64022600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:64007800-64021400	Weak transcription	NHEK	skin
22	chr7:64007800-64021600	Weak transcription	Placenta	Placenta
23	chr7:64007800-64022600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:64008600-64018800	Weak transcription	Hela-S3	cervix
25	chr7:64009800-64022600	Weak transcription	Thymus	Thymus
26	chr7:64010000-64022600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:64010200-64018800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:64010200-64021400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:64010200-64021400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:64011600-64019200	Weak transcription	Liver	Liver
31	chr7:64011800-64018800	Weak transcription	Aorta	Aorta
32	chr7:64011800-64021400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:64014800-64020000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:64014800-64022800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:64015000-64022400	Weak transcription	Right Ventricle	heart
36	chr7:64015200-64022600	Weak transcription	Fetal Brain Male	brain
37	chr7:64015400-64019000	ZNF genes & repeats	Dnd41	blood
38	chr7:64015800-64021400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:64016400-64022000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr7:64016600-64019400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:64016600-64020000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:64016600-64020800	Weak transcription	Fetal Thymus	thymus
43	chr7:64016800-64019600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:64017000-64018800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:64017000-64018800	Weak transcription	Fetal Heart	heart
46	chr7:64017000-64019000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:64017000-64021400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:64017200-64021400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:64017200-64022600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:64017400-64018800	ZNF genes & repeats	Fetal Intestine Small	intestine

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