Variant report

Variant	rs3134313
Chromosome Location	chr8:118934072-118934073
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10088632	1.00[EUR][1000 genomes]
rs13265594	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17475323	1.00[EUR][1000 genomes]
rs17475337	1.00[EUR][1000 genomes]
rs17475344	1.00[EUR][1000 genomes]
rs17475351	1.00[EUR][1000 genomes]
rs17475358	1.00[EUR][1000 genomes]
rs17477476	1.00[EUR][1000 genomes]
rs17504170	1.00[EUR][1000 genomes]
rs17504205	1.00[EUR][1000 genomes]
rs17506336	1.00[EUR][1000 genomes]
rs2019967	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376539	1.00[EUR][1000 genomes]
rs28429320	1.00[EUR][1000 genomes]
rs28626687	1.00[EUR][1000 genomes]
rs3101575	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3101576	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3101578	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134312	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4242577	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4377987	1.00[EUR][1000 genomes]
rs4401892	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4480147	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs4876768	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57705462	1.00[ASN][1000 genomes]
rs59529135	1.00[EUR][1000 genomes]
rs60815148	1.00[EUR][1000 genomes]
rs6999867	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004615	0.87[ASN][1000 genomes]
rs73312336	1.00[EUR][1000 genomes]
rs73312339	1.00[EUR][1000 genomes]
rs7357537	1.00[EUR][1000 genomes]
rs73704827	1.00[EUR][1000 genomes]
rs73704828	1.00[EUR][1000 genomes]
rs73704829	1.00[EUR][1000 genomes]
rs73704830	1.00[EUR][1000 genomes]
rs73704831	1.00[EUR][1000 genomes]
rs7459527	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7462118	1.00[EUR][1000 genomes]
rs7825927	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7831208	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7833960	1.00[EUR][1000 genomes]
rs9297572	1.00[EUR][1000 genomes]
rs9656804	1.00[EUR][1000 genomes]
rs9656924	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118922800-118934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:118927000-118935000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:118931000-118934400	Weak transcription	Psoas Muscle	Psoas
4	chr8:118931000-118935000	Weak transcription	Pancreas	Pancrea
5	chr8:118932000-118935200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:118932400-118935200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:118932400-118935400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:118932400-118935400	Enhancers	NHDF-Ad	bronchial
9	chr8:118932600-118934600	Enhancers	Fetal Lung	lung
10	chr8:118932600-118934600	Enhancers	NHLF	lung
11	chr8:118932600-118935000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:118932600-118935000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:118932600-118935000	Enhancers	Fetal Heart	heart
14	chr8:118932600-118935200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:118932600-118935200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:118932600-118935200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:118932600-118935400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:118932600-118937000	Enhancers	HSMM	muscle
19	chr8:118932800-118934200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr8:118932800-118934400	Enhancers	Aorta	Aorta
21	chr8:118932800-118934600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:118932800-118934600	Enhancers	GM12878-XiMat	blood
23	chr8:118932800-118935000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:118932800-118935000	Enhancers	HUVEC	blood vessel
25	chr8:118932800-118935200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:118932800-118935200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:118932800-118935200	Enhancers	Liver	Liver
28	chr8:118932800-118935200	Enhancers	A549	lung
29	chr8:118933000-118934800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:118933000-118934800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:118933000-118935000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:118933000-118935000	Enhancers	Colon Smooth Muscle	Colon
33	chr8:118933000-118935200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:118933000-118935200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:118933200-118934800	Weak transcription	Esophagus	oesophagus
36	chr8:118933200-118934800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:118933200-118935200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr8:118933200-118935400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:118933200-118935400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:118933200-118935400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:118933200-118936000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:118933200-118943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:118933200-118946600	Weak transcription	Gastric	stomach
44	chr8:118933400-118940800	Enhancers	Osteobl	bone
45	chr8:118933600-118935200	Enhancers	NHEK	skin
46	chr8:118933600-118935400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:118933600-118937000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:118933600-118938600	Weak transcription	Small Intestine	intestine
49	chr8:118933600-118938800	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:118933600-118938800	Weak transcription	HSMMtube	muscle

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