Variant report

Variant	rs376303
Chromosome Location	chr2:40440793-40440794
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:40440053..40440830-chr2:40675706..40676650,2	MCF-7	breast:
2	chr2:40440228..40440936-chr2:40471245..40471990,2	MCF-7	breast:
3	chr2:40440009..40440862-chr2:40987001..40987610,3	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10490209	0.92[CEU][hapmap]
rs105287	0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs106706	0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs107008	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12993486	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs1617492	0.83[ASN][1000 genomes]
rs1641453	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1641454	0.95[ASN][1000 genomes]
rs1651354	0.82[ASN][1000 genomes]
rs17025367	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs17025372	0.89[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs17025380	0.89[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs17025588	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2072529	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs2072530	0.81[JPT][hapmap]
rs2540904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs367596	0.95[ASN][1000 genomes]
rs368577	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs368613	0.80[ASN][1000 genomes]
rs369251	0.87[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap]
rs371492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs372072	0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs373273	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs376535	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs379804	0.83[ASN][1000 genomes]
rs380590	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs381610	0.85[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.82[ASN][1000 genomes]
rs384673	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs385341	0.89[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs385665	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs386984	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs388467	0.82[ASN][1000 genomes]
rs390145	0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs392317	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs392953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs395755	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs395987	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs398898	0.83[ASN][1000 genomes]
rs402777	0.82[ASN][1000 genomes]
rs404005	0.89[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs404214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs404226	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs405804	0.89[CHB][hapmap]
rs407148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs408263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs409522	0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs410912	0.83[ASN][1000 genomes]
rs419125	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs426140	0.82[ASN][1000 genomes]
rs433572	0.89[CHB][hapmap]
rs435404	0.94[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs436245	0.85[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs446538	0.89[CHB][hapmap]
rs447136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs449383	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs450450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs473400	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs481800	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs530048	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60592471	0.85[ASN][1000 genomes]
rs62148799	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66950674	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6706969	0.95[ASN][1000 genomes]
rs671010	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6757136	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873910	chr2:40391907-40466268	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv526425	chr2:40418386-40447587	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv526074	chr2:40423454-40451724	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40418200-40447200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40418600-40445800	Weak transcription	Dnd41	blood
3	chr2:40437200-40441600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:40437200-40453200	Weak transcription	Right Ventricle	heart
5	chr2:40438000-40447200	Weak transcription	Fetal Brain Male	brain
6	chr2:40439400-40441600	Enhancers	Osteobl	bone
7	chr2:40439600-40441600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:40439600-40441600	Enhancers	HSMM	muscle
9	chr2:40439800-40441400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:40439800-40441600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:40439800-40441600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:40439800-40441600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr2:40439800-40441600	Enhancers	Stomach Smooth Muscle	stomach
14	chr2:40439800-40441600	Enhancers	NHLF	lung
15	chr2:40440000-40440800	Enhancers	NH-A	brain
16	chr2:40440000-40441200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:40440000-40441400	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:40440000-40441400	Enhancers	HSMMtube	muscle
19	chr2:40440000-40441600	Enhancers	NHDF-Ad	bronchial
20	chr2:40440200-40441400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:40440200-40441400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:40440200-40442200	Enhancers	Colon Smooth Muscle	Colon
23	chr2:40440400-40441600	Enhancers	Left Ventricle	heart
24	chr2:40440600-40440800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:40440600-40441000	Enhancers	Fetal Intestine Large	intestine
26	chr2:40440600-40441000	Enhancers	Stomach Mucosa	stomach
27	chr2:40440600-40441200	Enhancers	Fetal Intestine Small	intestine
28	chr2:40440600-40441400	Enhancers	Fetal Muscle Leg	muscle
29	chr2:40440600-40441600	Enhancers	Fetal Heart	heart
30	chr2:40440600-40442000	Enhancers	Fetal Stomach	stomach
31	chr2:40440600-40447400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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