Variant report

Variant	rs10992088
Chromosome Location	chr9:94533489-94533490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94520499..94521292-chr9:94533176..94533953,2	MCF-7	breast:
2	chr9:94533140..94534672-chr9:94535673..94537845,2	MCF-7	breast:
3	chr9:94533336..94534896-chr9:94707634..94709527,2	MCF-7	breast:
4	chr9:94527497..94529105-chr9:94533152..94535517,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10512217	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10820902	0.83[YRI][hapmap]
rs10992086	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992087	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10992089	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12235606	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12235611	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12237459	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12238428	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907741	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16907754	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16907761	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907764	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34854279	0.98[ASN][1000 genomes]
rs4467997	0.85[JPT][hapmap]
rs4595186	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4744097	0.85[JPT][hapmap]
rs60099576	0.98[ASN][1000 genomes]
rs7026175	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7039620	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73511102	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7855079	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv6612	chr9:94490644-94535738	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94487000-94535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:94527600-94538800	Weak transcription	K562	blood
3	chr9:94529400-94539800	Enhancers	Colon Smooth Muscle	Colon
4	chr9:94530400-94535200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:94531600-94533600	Enhancers	Esophagus	oesophagus
6	chr9:94532200-94537000	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr9:94532200-94539200	Enhancers	Fetal Heart	heart
8	chr9:94532400-94533600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr9:94532400-94534600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:94532600-94533600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:94532600-94533600	Enhancers	Placenta	Placenta
12	chr9:94532600-94534000	Enhancers	HMEC	breast
13	chr9:94532600-94534400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr9:94532800-94533600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:94532800-94533800	Flanking Active TSS	NHEK	skin
16	chr9:94532800-94534000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr9:94532800-94534000	Enhancers	Stomach Mucosa	stomach
18	chr9:94532800-94534200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr9:94532800-94534400	Enhancers	HSMM	muscle
20	chr9:94532800-94534800	Enhancers	Ovary	ovary
21	chr9:94532800-94535400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:94532800-94536000	Enhancers	HSMMtube	muscle
23	chr9:94532800-94536400	Enhancers	Fetal Lung	lung
24	chr9:94533000-94533800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:94533000-94533800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr9:94533000-94534200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:94533000-94534200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:94533000-94534200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr9:94533000-94534200	Enhancers	Fetal Stomach	stomach
30	chr9:94533000-94534400	Enhancers	Fetal Kidney	kidney
31	chr9:94533000-94534600	Enhancers	NH-A	brain
32	chr9:94533000-94535200	Enhancers	Fetal Intestine Small	intestine
33	chr9:94533000-94542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:94533000-94543600	Weak transcription	Right Atrium	heart
35	chr9:94533200-94533600	Enhancers	Fetal Intestine Large	intestine
36	chr9:94533200-94533600	Flanking Active TSS	NHLF	lung
37	chr9:94533200-94534000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:94533200-94534200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:94533200-94534200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr9:94533200-94534400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:94533200-94534400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr9:94533200-94534400	Enhancers	Fetal Muscle Leg	muscle
43	chr9:94533400-94533600	Enhancers	Osteobl	bone
44	chr9:94533400-94533800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:94533400-94533800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:94533400-94533800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:94533400-94534400	Weak transcription	Gastric	stomach
48	chr9:94533400-94534600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr9:94533400-94535000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:94533400-94535200	Enhancers	NHDF-Ad	bronchial

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