Variant report

Variant	rs9764664
Chromosome Location	chr2:175948873-175948874
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4549564	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6452982	0.83[EUR][1000 genomes]
rs6859941	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934251	chr2:175611422-175962546	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1009096	chr2:175834260-176173401	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv536044	chr2:175834260-176173401	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1012709	chr2:175888128-176704811	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:175921200-175996200	Weak transcription	Fetal Brain Male	brain
2	chr2:175921600-175960000	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:175922600-176003200	Weak transcription	Right Ventricle	heart
4	chr2:175922800-175984800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:175926200-175960000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:175926400-176001000	Weak transcription	Esophagus	oesophagus
7	chr2:175926600-175991600	Weak transcription	Spleen	Spleen
8	chr2:175927000-175957000	Weak transcription	Brain Anterior Caudate	brain
9	chr2:175927400-175968400	Weak transcription	Brain Substantia Nigra	brain
10	chr2:175928200-175980600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:175928200-175983000	Weak transcription	Pancreas	Pancrea
12	chr2:175928400-175973400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:175928800-175971800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:175929000-176019600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:175929400-175949400	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:175929600-175956400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:175930800-175958800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:175931000-175958800	Weak transcription	Fetal Intestine Small	intestine
19	chr2:175931000-175958800	Weak transcription	Fetal Stomach	stomach
20	chr2:175935000-176001800	Weak transcription	Small Intestine	intestine
21	chr2:175935200-176031600	Weak transcription	Brain Angular Gyrus	brain
22	chr2:175936000-175952000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:175936400-176009400	Weak transcription	Gastric	stomach
24	chr2:175936600-176019400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:175936800-175967000	Weak transcription	Colonic Mucosa	Colon
26	chr2:175936800-175971600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:175936800-175972600	Weak transcription	Lung	lung
28	chr2:175936800-175999400	Weak transcription	Psoas Muscle	Psoas
29	chr2:175937200-175949000	Weak transcription	Fetal Kidney	kidney
30	chr2:175937200-175954800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:175938400-175951600	Weak transcription	Brain Germinal Matrix	brain
32	chr2:175938400-175962400	Weak transcription	Fetal Heart	heart
33	chr2:175939800-175949600	Weak transcription	NHEK	skin
34	chr2:175939800-175973600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:175939800-175976000	Weak transcription	HSMMtube	muscle
36	chr2:175940000-175956800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:175940000-175971800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:175940000-176015800	Weak transcription	Hela-S3	cervix
39	chr2:175940600-175957800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:175940800-175952600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:175942800-175949000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:175942800-175949000	Weak transcription	Fetal Lung	lung
43	chr2:175942800-175949400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:175942800-175949400	Weak transcription	GM12878-XiMat	blood
45	chr2:175942800-175959000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:175942800-175965800	Weak transcription	HMEC	breast
47	chr2:175943000-175949000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:175943000-175949400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:175943000-175949400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:175943200-175949400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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