Variant report

Variant	rs212703
Chromosome Location	chr2:32446613-32446614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32445227..32449129-chr2:32451328..32453997,4	K562	blood:
2	chr2:32444908..32446420-chr2:32446520..32449032,2	MCF-7	breast:
3	chr2:32427480..32429010-chr2:32446145..32448462,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10172468	0.85[CEU][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10208246	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10490360	0.91[CHB][hapmap]
rs11124274	0.91[CHB][hapmap];0.95[CHD][hapmap]
rs11124275	0.91[CHB][hapmap]
rs11124278	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11676475	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11676938	0.91[CHB][hapmap];0.95[CHD][hapmap];0.81[LWK][hapmap]
rs11678119	0.86[CHB][hapmap];0.93[CHD][hapmap];0.81[LWK][hapmap];0.82[ASN][1000 genomes]
rs11694630	0.83[ASN][1000 genomes]
rs12465124	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12465351	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12474598	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12614686	0.91[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap]
rs12989936	0.91[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap]
rs12997026	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13017189	0.91[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap]
rs13022197	0.95[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap]
rs13427170	0.92[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs177083	0.96[CEU][hapmap];0.90[GIH][hapmap];0.82[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17767988	0.91[CHB][hapmap]
rs212679	0.82[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs212686	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs212687	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs212694	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs212704	0.96[CEU][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs212706	0.83[CEU][hapmap]
rs212707	0.81[CEU][hapmap]
rs212708	0.83[CEU][hapmap];0.86[YRI][hapmap]
rs212713	1.00[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs212715	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs212716	0.82[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap];0.80[MEX][hapmap]
rs212717	0.91[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs212738	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212739	0.91[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs212740	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs212741	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs212743	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212744	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs212745	0.82[JPT][hapmap]
rs212746	0.82[JPT][hapmap]
rs212748	1.00[CEU][hapmap];0.82[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs212749	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs212753	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs212755	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs212757	0.91[EUR][1000 genomes]
rs212760	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs212762	0.95[CEU][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs216544	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap]
rs2280967	0.91[CHB][hapmap];0.95[CHD][hapmap]
rs2280973	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2365555	0.91[CHB][hapmap];0.95[CHD][hapmap]
rs2366736	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3752916	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs3752917	0.80[AMR][1000 genomes]
rs3769602	0.85[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.81[LWK][hapmap];0.84[ASN][1000 genomes]
rs3769604	0.91[CHB][hapmap];0.95[CHD][hapmap];0.81[LWK][hapmap]
rs3769606	0.91[CHB][hapmap];0.95[CHD][hapmap]
rs3851308	0.83[AMR][1000 genomes]
rs4258846	0.87[ASN][1000 genomes]
rs435572	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs4407291	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs443609	0.91[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap]
rs4519572	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs467523	0.88[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap]
rs479333	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap]
rs4952209	0.89[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4952248	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs4952250	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs4952252	0.89[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55877106	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56208031	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62134021	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs659239	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs6716179	0.89[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6717209	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6723154	0.91[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap]
rs6725184	0.86[CHD][hapmap]
rs6737500	0.91[CHB][hapmap];0.92[CHD][hapmap]
rs6748621	0.82[CHB][hapmap];0.92[CHD][hapmap]
rs6752375	0.86[CHB][hapmap];0.92[CHD][hapmap]
rs6758024	0.91[CHB][hapmap]
rs6760105	0.91[CHB][hapmap];0.95[CHD][hapmap];0.81[LWK][hapmap]
rs6761417	0.80[AMR][1000 genomes]
rs7561519	0.86[CHB][hapmap];0.95[CHD][hapmap];0.81[LWK][hapmap]
rs7566162	0.91[CHB][hapmap]
rs7572964	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs7573543	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs7577696	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap]
rs7581340	0.91[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap]
rs7581432	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7586448	0.91[CHB][hapmap]
rs7588883	0.94[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7592239	0.81[ASN][1000 genomes]
rs7601267	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap]
rs7605242	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv2667	chr2:32444810-32489755	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs212703	NLRC4	cis	Lymphoblastoid	GTEx

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	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:32404200-32447600	Weak transcription	Pancreas	Pancrea
7	chr2:32404200-32448000	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
9	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
10	chr2:32404400-32447400	Weak transcription	HUVEC	blood vessel
11	chr2:32404400-32450800	Weak transcription	Gastric	stomach
12	chr2:32404800-32447800	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:32411600-32447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:32412000-32450400	Weak transcription	Spleen	Spleen
15	chr2:32419200-32446800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:32420800-32447000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:32422000-32452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:32423000-32447400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:32423400-32448000	Weak transcription	Small Intestine	intestine
20	chr2:32424400-32447400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:32424400-32447600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:32424400-32447600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:32424400-32455400	Weak transcription	Fetal Brain Male	brain
24	chr2:32426400-32455000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:32426800-32447600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:32426800-32447600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:32427000-32447400	Weak transcription	Ovary	ovary
28	chr2:32427400-32447400	Weak transcription	Brain Anterior Caudate	brain
29	chr2:32427400-32447800	Weak transcription	K562	blood
30	chr2:32428200-32447600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:32428800-32447600	Weak transcription	Aorta	Aorta
32	chr2:32433800-32451600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:32434000-32447400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:32434600-32449800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:32435200-32451600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:32436200-32447400	Weak transcription	Fetal Lung	lung
37	chr2:32437200-32447600	Weak transcription	Brain Germinal Matrix	brain
38	chr2:32437800-32449000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:32438800-32452400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:32440800-32448800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:32442600-32448800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:32442800-32448800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr2:32442800-32452200	Strong transcription	Liver	Liver
44	chr2:32443000-32449800	Strong transcription	Fetal Intestine Large	intestine
45	chr2:32443000-32451600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:32443000-32483600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:32443200-32448600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:32443200-32451600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:32443200-32483800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr2:32443400-32447200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links