Variant report

Variant	rs8002565
Chromosome Location	chr13:49117019-49117020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49106673..49108535-chr13:49114144..49118573,5	MCF-7	breast:
2	chr13:49116019..49118411-chr13:49119146..49122086,2	K562	blood:
3	chr13:49115025..49117372-chr13:49140241..49143183,2	MCF-7	breast:
4	chr13:49113085..49114630-chr13:49116071..49118855,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136161	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1547660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1926595	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926596	0.91[ASN][1000 genomes]
rs1926597	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198564	0.85[ASN][1000 genomes]
rs198568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs198571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs198574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs198575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs198576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs198577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs198606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs198609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs198610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs198614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs198622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2274400	0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs28414460	0.91[ASN][1000 genomes]
rs2854353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2854357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2854362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28646083	0.91[ASN][1000 genomes]
rs28674973	0.84[ASN][1000 genomes]
rs2897587	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3092888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3092898	0.88[ASN][1000 genomes]
rs3092899	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs3751380	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs398158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs403390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs406098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151448	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4151452	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4151456	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs4151474	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4151525	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs4151601	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs425834	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs427686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs61074776	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561465	1.00[CEU][hapmap]
rs7325962	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7326934	0.95[YRI][hapmap];0.81[AMR][1000 genomes]
rs7329039	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329865	0.88[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs73486867	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495016	0.88[ASN][1000 genomes]
rs7985825	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7987935	0.91[ASN][1000 genomes]
rs7992129	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995216	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7996186	0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs7996402	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316385	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9316396	0.83[AMR][1000 genomes]
rs9316401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9331959	0.91[ASN][1000 genomes]
rs9331965	0.88[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs9331973	0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs9332054	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs9591172	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591177	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9591178	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595929	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9595931	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49115800-49118400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:49115800-49118400	Enhancers	Fetal Heart	heart
3	chr13:49116000-49117400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:49116200-49117200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:49116200-49117200	Enhancers	Fetal Muscle Trunk	muscle
6	chr13:49116200-49117200	Enhancers	Fetal Stomach	stomach
7	chr13:49116200-49117200	Enhancers	Fetal Thymus	thymus
8	chr13:49116200-49117200	Enhancers	Left Ventricle	heart
9	chr13:49116200-49117400	Enhancers	Fetal Muscle Leg	muscle
10	chr13:49116200-49117400	Enhancers	Psoas Muscle	Psoas
11	chr13:49116200-49117600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr13:49116200-49117600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr13:49116400-49117200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:49116400-49117200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:49116400-49117200	Enhancers	Esophagus	oesophagus
16	chr13:49116400-49117200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:49116400-49117200	Enhancers	Fetal Intestine Large	intestine
18	chr13:49116400-49117200	Enhancers	Fetal Lung	lung
19	chr13:49116400-49117200	Enhancers	Placenta	Placenta
20	chr13:49116400-49117200	Enhancers	Lung	lung
21	chr13:49116400-49117200	Enhancers	Stomach Mucosa	stomach
22	chr13:49116400-49117400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:49116400-49117400	Enhancers	Primary hematopoietic stem cells	blood
24	chr13:49116400-49117400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr13:49116400-49117400	Enhancers	Liver	Liver
26	chr13:49116400-49117400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr13:49116400-49117600	Enhancers	Colon Smooth Muscle	Colon
28	chr13:49116400-49117600	Enhancers	HSMMtube	muscle
29	chr13:49116600-49117200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr13:49116600-49117200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:49116600-49117200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr13:49116600-49117200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:49116600-49117200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:49116600-49117200	Enhancers	Brain Cingulate Gyrus	brain
35	chr13:49116600-49117200	Flanking Active TSS	Colonic Mucosa	Colon
36	chr13:49116600-49117200	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr13:49116600-49117200	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr13:49116600-49117200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr13:49116600-49117200	Enhancers	Thymus	Thymus
40	chr13:49116600-49117400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:49116600-49117400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr13:49116600-49117400	Enhancers	Fetal Intestine Small	intestine
43	chr13:49116600-49117600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:49116600-49117600	Enhancers	GM12878-XiMat	blood
45	chr13:49116800-49117200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr13:49116800-49117200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:49116800-49117200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:49116800-49117200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr13:49116800-49117200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr13:49116800-49117200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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