Variant report

Variant	rs212748
Chromosome Location	chr2:32415746-32415747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32389104..32394341-chr2:32415587..32422183,9	K562	blood:

Variant related genes	Relation type
ENSG00000152683	Chromatin interaction
ENSG00000272716	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10172468	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10208246	0.91[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11124274	0.81[JPT][hapmap]
rs11124275	0.86[JPT][hapmap]
rs11124278	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11676475	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11676938	0.86[JPT][hapmap]
rs11678119	0.86[JPT][hapmap]
rs12465124	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12465351	1.00[CEU][hapmap];0.91[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12474598	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12614686	0.91[JPT][hapmap]
rs12997026	1.00[CEU][hapmap];0.91[JPT][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13022197	0.91[JPT][hapmap]
rs13427170	0.91[CEU][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs177083	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs212678	0.88[ASN][1000 genomes]
rs212679	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs212686	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs212687	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs212694	0.89[EUR][1000 genomes]
rs212703	1.00[CEU][hapmap];0.82[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs212704	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs212706	0.83[CEU][hapmap]
rs212708	0.83[CEU][hapmap]
rs212713	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs212715	0.91[JPT][hapmap]
rs212716	0.90[JPT][hapmap]
rs212717	0.95[JPT][hapmap]
rs212738	1.00[CEU][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212739	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs212740	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs212741	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs212743	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs212744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs212745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs212746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs212749	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212752	0.81[EUR][1000 genomes]
rs212753	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs212757	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs212760	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs212762	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs216544	0.87[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs2280973	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2366736	1.00[CEU][hapmap];0.96[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3752916	0.95[JPT][hapmap]
rs3752917	0.82[AMR][1000 genomes]
rs3769602	0.91[JPT][hapmap]
rs3769604	0.86[JPT][hapmap]
rs3769606	0.86[JPT][hapmap]
rs3851308	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs435572	0.95[JPT][hapmap]
rs4407291	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs443609	0.95[JPT][hapmap]
rs4519572	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs467523	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs479333	0.95[JPT][hapmap]
rs4952209	1.00[CEU][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4952248	0.91[JPT][hapmap]
rs4952250	0.91[JPT][hapmap]
rs4952252	1.00[CEU][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55877106	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56208031	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62134021	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659239	0.95[JPT][hapmap]
rs6716179	1.00[CEU][hapmap];0.90[JPT][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6717209	1.00[CEU][hapmap];0.91[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6723154	0.91[JPT][hapmap]
rs6737500	0.86[JPT][hapmap]
rs6748621	0.82[JPT][hapmap]
rs6752375	0.86[JPT][hapmap]
rs6760105	0.86[JPT][hapmap]
rs6761417	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7561519	0.80[JPT][hapmap]
rs7566162	0.87[JPT][hapmap]
rs7572964	0.91[JPT][hapmap]
rs7573543	0.91[JPT][hapmap]
rs7581340	0.95[JPT][hapmap]
rs7581432	1.00[CEU][hapmap];0.90[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7588883	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7605242	0.87[JPT][hapmap]

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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32391600-32426400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:32391800-32431400	Weak transcription	Stomach Mucosa	stomach
4	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
5	chr2:32392000-32435800	Weak transcription	NHLF	lung
6	chr2:32392200-32422800	Weak transcription	Fetal Brain Male	brain
7	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:32400800-32418800	Weak transcription	NHDF-Ad	bronchial
11	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:32403800-32426200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:32404200-32417600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:32404200-32445200	Weak transcription	Brain Angular Gyrus	brain
15	chr2:32404200-32447600	Weak transcription	Pancreas	Pancrea
16	chr2:32404200-32448000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
18	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
19	chr2:32404400-32416800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:32404400-32423800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:32404400-32427800	Weak transcription	Aorta	Aorta
22	chr2:32404400-32447400	Weak transcription	HUVEC	blood vessel
23	chr2:32404400-32450800	Weak transcription	Gastric	stomach
24	chr2:32404800-32417600	Weak transcription	HSMM	muscle
25	chr2:32404800-32434000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:32404800-32447800	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:32405200-32418200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:32405800-32420600	Weak transcription	Left Ventricle	heart
29	chr2:32405800-32423800	Weak transcription	Ovary	ovary
30	chr2:32407200-32421600	Weak transcription	Small Intestine	intestine
31	chr2:32408000-32418400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:32408000-32424000	Weak transcription	Brain Anterior Caudate	brain
33	chr2:32408000-32426000	Weak transcription	HSMMtube	muscle
34	chr2:32408000-32428000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:32408000-32435800	Weak transcription	Psoas Muscle	Psoas
36	chr2:32408400-32423800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:32409400-32421000	Strong transcription	HepG2	liver
38	chr2:32410200-32422400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:32410400-32418200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:32410400-32436000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:32410400-32445200	Weak transcription	Fetal Kidney	kidney
42	chr2:32410600-32418800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:32410600-32445200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:32410800-32418000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:32411400-32418200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:32411400-32422600	Weak transcription	NH-A	brain
47	chr2:32411400-32445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:32411600-32418400	Weak transcription	Dnd41	blood
49	chr2:32411600-32418600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:32411600-32423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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