Variant report

Variant	rs12064943
Chromosome Location	chr1:95085728-95085729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95075515..95077960-chr1:95084097..95086216,2	K562	blood:
2	chr1:95079718..95082412-chr1:95085713..95087293,2	MCF-7	breast:
3	chr1:95083696..95086099-chr1:95111956..95113779,2	MCF-7	breast:
4	chr1:95084398..95087368-chr1:95088701..95090405,2	MCF-7	breast:
5	chr1:95005520..95008552-chr1:95083214..95086682,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235565	Chromatin interaction
ENSG00000117525	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10399782	1.00[EUR][1000 genomes]
rs1146475	1.00[EUR][1000 genomes]
rs1146478	1.00[EUR][1000 genomes]
rs1146479	1.00[EUR][1000 genomes]
rs1146506	1.00[EUR][1000 genomes]
rs1146516	1.00[EUR][1000 genomes]
rs12065028	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1303136	1.00[EUR][1000 genomes]
rs1343483	1.00[EUR][1000 genomes]
rs17112279	1.00[EUR][1000 genomes]
rs1747656	1.00[EUR][1000 genomes]
rs1747658	1.00[EUR][1000 genomes]
rs1749540	1.00[EUR][1000 genomes]
rs1765653	1.00[EUR][1000 genomes]
rs1772902	1.00[EUR][1000 genomes]
rs1778210	1.00[EUR][1000 genomes]
rs2798944	1.00[EUR][1000 genomes]
rs2971948	1.00[EUR][1000 genomes]
rs479627	1.00[EUR][1000 genomes]
rs484420	1.00[EUR][1000 genomes]
rs4847315	1.00[EUR][1000 genomes]
rs512648	1.00[EUR][1000 genomes]
rs513976	1.00[EUR][1000 genomes]
rs529642	1.00[EUR][1000 genomes]
rs598962	1.00[EUR][1000 genomes]
rs610088	1.00[EUR][1000 genomes]
rs630382	1.00[EUR][1000 genomes]
rs6660037	1.00[EUR][1000 genomes]
rs698945	1.00[EUR][1000 genomes]
rs768967	1.00[EUR][1000 genomes]
rs860909	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv947122	chr1:95081067-95089572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv519997	chr1:95083836-95113417	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1001230	chr1:95085184-95108531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95065600-95087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:95075200-95088400	Weak transcription	Fetal Lung	lung
3	chr1:95075600-95086000	Weak transcription	Fetal Stomach	stomach
4	chr1:95078600-95086000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:95080800-95086800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:95082400-95086200	Weak transcription	Fetal Heart	heart
7	chr1:95082600-95088200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:95082800-95088200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:95083000-95087600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:95083000-95087800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:95083200-95086400	Weak transcription	A549	lung
12	chr1:95083400-95085800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:95083400-95086200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:95083400-95086200	Weak transcription	Small Intestine	intestine
15	chr1:95083400-95087000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:95083400-95088600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:95083800-95086400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:95083800-95086800	Weak transcription	NHLF	lung
19	chr1:95083800-95087200	Weak transcription	Osteobl	bone
20	chr1:95083800-95088600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:95084000-95086400	Weak transcription	Colonic Mucosa	Colon
22	chr1:95084000-95086600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:95084000-95086800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:95084000-95086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:95084000-95087000	Weak transcription	HepG2	liver
26	chr1:95084000-95087600	Weak transcription	NHDF-Ad	bronchial
27	chr1:95084000-95088200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:95084800-95090200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:95085000-95086200	Enhancers	NHEK	skin
30	chr1:95085000-95090200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:95085000-95090600	Enhancers	HMEC	breast
32	chr1:95085200-95085800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:95085200-95086800	Enhancers	Hela-S3	cervix
34	chr1:95085200-95087200	Enhancers	Gastric	stomach
35	chr1:95085200-95087200	Enhancers	Lung	lung
36	chr1:95085200-95087800	Enhancers	Pancreas	Pancrea
37	chr1:95085200-95087800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr1:95085200-95089600	Enhancers	Fetal Intestine Small	intestine
39	chr1:95085200-95089800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:95085200-95090000	Enhancers	NH-A	brain
41	chr1:95085200-95090600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:95085200-95090600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr1:95085200-95090800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:95085400-95085800	Enhancers	HSMM	muscle
45	chr1:95085400-95090000	Enhancers	Stomach Mucosa	stomach
46	chr1:95085600-95088200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links