Variant report

Variant	rs16904337
Chromosome Location	chr8:131687912-131687913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131143618..131144237-chr8:131687175..131687999,2	MCF-7	breast:
2	chr8:131540626..131543155-chr8:131685546..131688232,2	K562	blood:
3	chr8:131219589..131220491-chr8:131687421..131688234,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10088420	0.92[EUR][1000 genomes]
rs10095393	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10095479	0.92[EUR][1000 genomes]
rs10095628	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10095820	0.92[EUR][1000 genomes]
rs10096321	0.91[EUR][1000 genomes]
rs10098463	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10107223	0.92[EUR][1000 genomes]
rs10108730	0.84[EUR][1000 genomes]
rs10113164	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11985368	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11993977	0.84[EUR][1000 genomes]
rs11995949	0.89[ASN][1000 genomes]
rs11995981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1509847	0.93[EUR][1000 genomes]
rs16893283	0.82[EUR][1000 genomes]
rs16893288	0.82[EUR][1000 genomes]
rs16904338	0.90[ASN][1000 genomes]
rs16904339	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1912271	0.92[EUR][1000 genomes]
rs1912272	0.92[EUR][1000 genomes]
rs1961665	0.92[EUR][1000 genomes]
rs28379502	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28428945	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28430960	0.97[EUR][1000 genomes]
rs28870411	0.82[EUR][1000 genomes]
rs4294201	0.93[EUR][1000 genomes]
rs4472534	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4483174	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4560808	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59406705	0.82[EUR][1000 genomes]
rs7002882	0.92[CEU][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7004166	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs715679	0.92[EUR][1000 genomes]
rs72728275	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73344752	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822131	0.84[EUR][1000 genomes]
rs7831277	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7832079	0.92[CEU][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7844774	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs952132	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs956481	0.93[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]

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	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915864	chr8:131509799-131754822	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2752684	chr8:131641096-131710094	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131672400-131689600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:131683400-131688600	Enhancers	NHDF-Ad	bronchial
3	chr8:131684000-131688400	Enhancers	HUVEC	blood vessel
4	chr8:131684400-131688400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:131685400-131688000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:131685600-131688400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:131686000-131688000	Weak transcription	Hela-S3	cervix
8	chr8:131686200-131688000	Weak transcription	Placenta	Placenta
9	chr8:131686200-131688000	Weak transcription	K562	blood
10	chr8:131686200-131689600	Weak transcription	Lung	lung
11	chr8:131686200-131694800	Weak transcription	Esophagus	oesophagus
12	chr8:131686800-131688600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:131687000-131688200	Enhancers	Fetal Muscle Leg	muscle
14	chr8:131687000-131688200	Enhancers	Right Ventricle	heart
15	chr8:131687000-131688400	Enhancers	NHLF	lung
16	chr8:131687200-131688200	Enhancers	Brain Germinal Matrix	brain
17	chr8:131687200-131688200	Enhancers	Fetal Brain Male	brain
18	chr8:131687600-131688200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:131687600-131688200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:131687600-131688200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:131687600-131688200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:131687600-131688200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:131687600-131688200	Enhancers	Adipose Nuclei	Adipose
24	chr8:131687600-131688200	Enhancers	Brain Angular Gyrus	brain
25	chr8:131687600-131688200	Enhancers	Brain Hippocampus Middle	brain
26	chr8:131687600-131688200	Enhancers	Fetal Heart	heart
27	chr8:131687600-131688200	Enhancers	Fetal Stomach	stomach
28	chr8:131687600-131688200	Enhancers	Left Ventricle	heart
29	chr8:131687600-131688200	Enhancers	Ovary	ovary
30	chr8:131687600-131688200	Enhancers	Pancreas	Pancrea
31	chr8:131687600-131688200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr8:131687600-131688200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr8:131687600-131688200	Enhancers	Stomach Mucosa	stomach
34	chr8:131687600-131688400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:131687600-131688400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:131687600-131688400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:131687600-131688400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:131687600-131688400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:131687600-131688400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:131687600-131688400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:131687600-131688400	Enhancers	Rectal Smooth Muscle	rectum
42	chr8:131687600-131688400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr8:131687600-131688400	Enhancers	Stomach Smooth Muscle	stomach
44	chr8:131687600-131688400	Enhancers	A549	lung
45	chr8:131687600-131688400	Enhancers	HSMM	muscle
46	chr8:131687600-131688400	Enhancers	HSMMtube	muscle
47	chr8:131687600-131688400	Enhancers	NH-A	brain
48	chr8:131687600-131688400	Enhancers	NHEK	skin
49	chr8:131687600-131688400	Enhancers	Osteobl	bone
50	chr8:131687800-131688200	Enhancers	Colon Smooth Muscle	Colon

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