Variant report

Variant	rs2086008
Chromosome Location	chr8:118935624-118935625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11562671	0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs11562687	0.86[EUR][1000 genomes]
rs11562703	0.81[EUR][1000 genomes]
rs11562737	0.81[EUR][1000 genomes]
rs11562738	1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs11562774	0.81[EUR][1000 genomes]
rs11562775	0.81[EUR][1000 genomes]
rs11562776	0.81[EUR][1000 genomes]
rs11562821	0.81[EUR][1000 genomes]
rs11562822	0.81[EUR][1000 genomes]
rs11562823	0.86[EUR][1000 genomes]
rs17430749	0.82[YRI][hapmap]
rs17430930	0.86[EUR][1000 genomes]
rs17430965	0.81[EUR][1000 genomes]
rs17431152	0.82[YRI][hapmap]
rs17431215	0.82[YRI][hapmap]
rs17453344	0.86[EUR][1000 genomes]
rs17453357	0.86[EUR][1000 genomes]
rs17453448	0.81[EUR][1000 genomes]
rs17453567	0.82[YRI][hapmap]
rs17453602	0.82[YRI][hapmap]
rs17453651	0.82[YRI][hapmap]
rs17475659	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17475666	0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17475673	0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17475687	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17475694	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17475722	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17475743	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17475785	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17475946	0.86[EUR][1000 genomes]
rs17476226	0.82[YRI][hapmap]
rs17476233	0.82[YRI][hapmap]
rs17476254	0.82[YRI][hapmap]
rs17476282	0.92[EUR][1000 genomes]
rs17476296	0.82[YRI][hapmap]
rs17504490	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17504568	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17504631	0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2086009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59628055	0.81[EUR][1000 genomes]
rs60822517	0.81[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118932600-118937000	Enhancers	HSMM	muscle
2	chr8:118933200-118936000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:118933200-118943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:118933200-118946600	Weak transcription	Gastric	stomach
5	chr8:118933400-118940800	Enhancers	Osteobl	bone
6	chr8:118933600-118937000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:118933600-118938600	Weak transcription	Small Intestine	intestine
8	chr8:118933600-118938800	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:118933600-118938800	Weak transcription	HSMMtube	muscle
10	chr8:118933600-118940000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:118933600-118941400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:118933600-118945600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:118933600-118945800	Weak transcription	Right Atrium	heart
14	chr8:118933600-118946200	Weak transcription	Ovary	ovary
15	chr8:118933600-118946600	Weak transcription	Brain Germinal Matrix	brain
16	chr8:118933800-118939400	Weak transcription	Adipose Nuclei	Adipose
17	chr8:118933800-118939400	Weak transcription	Fetal Brain Male	brain
18	chr8:118933800-118946000	Weak transcription	Fetal Intestine Large	intestine
19	chr8:118934000-118936000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:118934000-118936000	Weak transcription	NH-A	brain
21	chr8:118934000-118936200	Weak transcription	HMEC	breast
22	chr8:118934000-118940600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:118934600-118938400	Weak transcription	Fetal Lung	lung
24	chr8:118934600-118940200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:118934800-118938400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:118935000-118936000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:118935000-118936000	Weak transcription	Aorta	Aorta
28	chr8:118935000-118936000	Weak transcription	Fetal Heart	heart
29	chr8:118935000-118938800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:118935000-118938800	Weak transcription	HUVEC	blood vessel
31	chr8:118935000-118940000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:118935200-118936000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:118935200-118936000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:118935200-118936000	Weak transcription	NHEK	skin
35	chr8:118935200-118936000	Weak transcription	NHLF	lung
36	chr8:118935200-118936200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:118935200-118936200	Weak transcription	Liver	Liver
38	chr8:118935200-118936200	Weak transcription	A549	lung
39	chr8:118935200-118936400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:118935200-118937000	Weak transcription	Pancreas	Pancrea
41	chr8:118935200-118938600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:118935200-118938800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:118935200-118939800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:118935200-118940200	Weak transcription	Right Ventricle	heart
45	chr8:118935200-118940400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:118935200-118942400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr8:118935200-118946200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:118935200-118949800	Weak transcription	Psoas Muscle	Psoas
49	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
50	chr8:118935400-118935800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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