Variant report

Variant	rs212761
Chromosome Location	chr2:32429288-32429289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11691939	0.93[CEU][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12478134	0.93[CEU][hapmap]
rs12991444	0.86[CEU][hapmap];0.84[JPT][hapmap]
rs12996943	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13006495	0.93[CEU][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13013695	0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17011801	0.93[CEU][hapmap];0.93[YRI][hapmap]
rs177082	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs186135	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs212682	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs212683	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs212684	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs212689	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs212690	0.90[EUR][1000 genomes]
rs212691	0.90[EUR][1000 genomes]
rs212696	0.90[EUR][1000 genomes]
rs212710	0.86[EUR][1000 genomes]
rs212736	0.85[CEU][hapmap]
rs212742	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs212747	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs212751	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs212754	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2280968	0.93[CEU][hapmap];0.92[YRI][hapmap]
rs2294178	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2366547	0.84[JPT][hapmap]
rs34197800	0.93[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35978916	0.83[EUR][1000 genomes]
rs375050	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3769605	0.86[CEU][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs410469	0.85[CEU][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs462878	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs56322034	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6543648	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6756085	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs686005	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7562653	0.85[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7574000	0.92[CEU][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs805831	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9789593	0.85[AFR][1000 genomes];0.87[EUR][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	chr2:32391800-32431400	Weak transcription	Stomach Mucosa	stomach
3	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
4	chr2:32392000-32435800	Weak transcription	NHLF	lung
5	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:32404200-32445200	Weak transcription	Brain Angular Gyrus	brain
10	chr2:32404200-32447600	Weak transcription	Pancreas	Pancrea
11	chr2:32404200-32448000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
13	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
14	chr2:32404400-32447400	Weak transcription	HUVEC	blood vessel
15	chr2:32404400-32450800	Weak transcription	Gastric	stomach
16	chr2:32404800-32434000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:32404800-32447800	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:32408000-32435800	Weak transcription	Psoas Muscle	Psoas
19	chr2:32410400-32436000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:32410400-32445200	Weak transcription	Fetal Kidney	kidney
21	chr2:32410600-32445200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:32411400-32445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:32411600-32447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:32412000-32450400	Weak transcription	Spleen	Spleen
25	chr2:32412200-32444200	Weak transcription	Fetal Brain Female	brain
26	chr2:32412800-32445200	Weak transcription	Brain Substantia Nigra	brain
27	chr2:32413200-32433600	Weak transcription	Fetal Lung	lung
28	chr2:32415200-32445200	Weak transcription	HMEC	breast
29	chr2:32415600-32432400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:32417400-32431000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:32419200-32446800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:32419800-32434000	Weak transcription	NHDF-Ad	bronchial
33	chr2:32419800-32445200	Weak transcription	HSMM	muscle
34	chr2:32420200-32432400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:32420600-32430200	Strong transcription	Fetal Thymus	thymus
36	chr2:32420800-32447000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:32421000-32432200	Strong transcription	Adipose Nuclei	Adipose
38	chr2:32421200-32445000	Weak transcription	Thymus	Thymus
39	chr2:32421200-32445400	Weak transcription	Fetal Heart	heart
40	chr2:32421400-32430600	Strong transcription	Primary T cells from cord blood	blood
41	chr2:32421400-32443000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:32422000-32452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:32423000-32443200	Weak transcription	GM12878-XiMat	blood
44	chr2:32423000-32447400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:32423400-32448000	Weak transcription	Small Intestine	intestine
46	chr2:32423600-32429600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:32423600-32433800	Strong transcription	Fetal Stomach	stomach
48	chr2:32423600-32445200	Weak transcription	NH-A	brain
49	chr2:32424200-32435200	Weak transcription	Left Ventricle	heart
50	chr2:32424200-32436800	Weak transcription	Brain Germinal Matrix	brain

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