Variant report

Variant	rs212683
Chromosome Location	chr2:32432934-32432935
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs186135	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs212682	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212684	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs212742	0.86[ASN][1000 genomes]
rs212747	0.88[ASN][1000 genomes]
rs212751	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs212754	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212761	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34197800	0.80[EUR][1000 genomes]
rs375050	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs410469	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 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	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
3	chr2:32392000-32435800	Weak transcription	NHLF	lung
4	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:32404200-32445200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:32404200-32447600	Weak transcription	Pancreas	Pancrea
10	chr2:32404200-32448000	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
12	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
13	chr2:32404400-32447400	Weak transcription	HUVEC	blood vessel
14	chr2:32404400-32450800	Weak transcription	Gastric	stomach
15	chr2:32404800-32434000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:32404800-32447800	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:32408000-32435800	Weak transcription	Psoas Muscle	Psoas
18	chr2:32410400-32436000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:32410400-32445200	Weak transcription	Fetal Kidney	kidney
20	chr2:32410600-32445200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:32411400-32445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:32411600-32447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:32412000-32450400	Weak transcription	Spleen	Spleen
24	chr2:32412200-32444200	Weak transcription	Fetal Brain Female	brain
25	chr2:32412800-32445200	Weak transcription	Brain Substantia Nigra	brain
26	chr2:32413200-32433600	Weak transcription	Fetal Lung	lung
27	chr2:32415200-32445200	Weak transcription	HMEC	breast
28	chr2:32419200-32446800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:32419800-32434000	Weak transcription	NHDF-Ad	bronchial
30	chr2:32419800-32445200	Weak transcription	HSMM	muscle
31	chr2:32420800-32447000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:32421200-32445000	Weak transcription	Thymus	Thymus
33	chr2:32421200-32445400	Weak transcription	Fetal Heart	heart
34	chr2:32421400-32443000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:32422000-32452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:32423000-32443200	Weak transcription	GM12878-XiMat	blood
37	chr2:32423000-32447400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:32423400-32448000	Weak transcription	Small Intestine	intestine
39	chr2:32423600-32433800	Strong transcription	Fetal Stomach	stomach
40	chr2:32423600-32445200	Weak transcription	NH-A	brain
41	chr2:32424200-32435200	Weak transcription	Left Ventricle	heart
42	chr2:32424200-32436800	Weak transcription	Brain Germinal Matrix	brain
43	chr2:32424400-32433600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:32424400-32438400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:32424400-32445200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:32424400-32447400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:32424400-32447600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:32424400-32447600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:32424400-32455400	Weak transcription	Fetal Brain Male	brain
50	chr2:32425400-32434200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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