Variant report

Variant	rs3102735
Chromosome Location	chr8:119965070-119965071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr8:119963770-119965225	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:119963672-119965120	GM19099	blood:	n/a	n/a

Variant related genes	Relation type
TNFRSF11B	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11573878	0.87[GIH][hapmap]
rs11573884	0.87[GIH][hapmap]
rs11573961	0.89[ASN][1000 genomes]
rs11780196	0.81[ASN][1000 genomes]
rs12335174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12386806	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12386956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12386959	0.98[ASN][1000 genomes]
rs12386960	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12675085	0.81[ASN][1000 genomes]
rs13253150	0.86[ASN][1000 genomes]
rs13270766	0.87[GIH][hapmap]
rs13270860	0.87[GIH][hapmap]
rs13276824	0.86[ASN][1000 genomes]
rs1385503	0.91[YRI][hapmap]
rs1385504	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1385505	1.00[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17758011	0.94[ASN][1000 genomes]
rs3102725	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3102726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3102729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3102730	0.97[ASN][1000 genomes]
rs3102731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3102733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3102734	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3134046	0.89[ASN][1000 genomes]
rs3134050	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs3134058	0.95[YRI][hapmap]
rs3134059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3134060	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3134061	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3134062	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3134064	0.98[ASN][1000 genomes]
rs3134066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3134067	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3134068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3134069	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3134070	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3134071	0.98[ASN][1000 genomes]
rs3134072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3134073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4291298	0.84[ASN][1000 genomes]
rs4377989	0.81[ASN][1000 genomes]
rs4466434	0.87[ASN][1000 genomes]
rs4477060	0.81[ASN][1000 genomes]
rs4593581	0.81[ASN][1000 genomes]
rs4599840	0.81[ASN][1000 genomes]
rs4876867	0.86[ASN][1000 genomes]
rs4876868	0.87[ASN][1000 genomes]
rs4876872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4876873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6469781	0.81[ASN][1000 genomes]
rs6469782	0.81[ASN][1000 genomes]
rs7825032	0.81[ASN][1000 genomes]
rs7825904	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7828837	0.90[GIH][hapmap]
rs7829393	0.81[ASN][1000 genomes]
rs7837001	0.87[GIH][hapmap]
rs7837123	0.83[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119961000-119965400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:119961600-119965200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:119962200-119965400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:119962600-119965600	Bivalent/Poised TSS	Fetal Kidney	kidney
5	chr8:119963600-119965400	Active TSS	Brain Angular Gyrus	brain
6	chr8:119964600-119965200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr8:119964600-119965200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:119964600-119965200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr8:119964600-119965200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:119964600-119965200	Flanking Active TSS	Osteobl	bone
11	chr8:119964800-119965200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:119964800-119965200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:119964800-119965200	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr8:119964800-119965200	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr8:119964800-119965200	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr8:119964800-119965400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:119964800-119965400	Enhancers	Left Ventricle	heart
18	chr8:119964800-119965400	Enhancers	Ovary	ovary
19	chr8:119964800-119965400	Flanking Active TSS	NHDF-Ad	bronchial
20	chr8:119964800-119971800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:119965000-119965200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr8:119965000-119965200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:119965000-119965200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr8:119965000-119965200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr8:119965000-119965200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr8:119965000-119965200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr8:119965000-119965200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:119965000-119965200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:119965000-119965200	Enhancers	Adipose Nuclei	Adipose
30	chr8:119965000-119965200	Enhancers	Aorta	Aorta
31	chr8:119965000-119965200	Active TSS	Brain Anterior Caudate	brain
32	chr8:119965000-119965200	Active TSS	Brain Cingulate Gyrus	brain
33	chr8:119965000-119965200	Enhancers	Brain Hippocampus Middle	brain
34	chr8:119965000-119965200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:119965000-119965200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr8:119965000-119965200	Active TSS	Fetal Intestine Small	intestine
37	chr8:119965000-119965200	Active TSS	HSMMtube	muscle
38	chr8:119965000-119965200	Enhancers	NH-A	brain
39	chr8:119965000-119965200	Active TSS	NHLF	lung
40	chr8:119965000-119965400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:119965000-119965400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:119965000-119965400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:119965000-119965400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:119965000-119965400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:119965000-119965400	Enhancers	Fetal Heart	heart
46	chr8:119965000-119965400	Enhancers	Fetal Intestine Large	intestine
47	chr8:119965000-119965400	Enhancers	Fetal Lung	lung
48	chr8:119965000-119965400	Enhancers	Fetal Stomach	stomach
49	chr8:119965000-119965600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr8:119965000-119973800	Weak transcription	Pancreas	Pancrea

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