Variant report

Variant	rs2371444
Chromosome Location	chr2:212975953-212975954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10197270	1.00[CHB][hapmap]
rs10445808	1.00[CHB][hapmap]
rs10497958	1.00[CHB][hapmap]
rs11690618	0.83[ASW][hapmap];0.85[CEU][hapmap];0.88[YRI][hapmap]
rs12373751	1.00[CHB][hapmap]
rs12464843	1.00[CHB][hapmap]
rs12468336	0.83[ASW][hapmap];0.88[YRI][hapmap]
rs12470737	1.00[CHB][hapmap]
rs12473708	1.00[CHB][hapmap]
rs12476163	1.00[CHB][hapmap]
rs12477159	1.00[CHB][hapmap]
rs12478950	1.00[CHB][hapmap]
rs1402716	1.00[CHB][hapmap]
rs1402718	1.00[CHB][hapmap]
rs1464443	1.00[CHB][hapmap]
rs1473636	1.00[CHB][hapmap]
rs1473638	1.00[CHB][hapmap]
rs1521550	1.00[CHB][hapmap]
rs1521553	1.00[CHB][hapmap]
rs16847568	1.00[CHB][hapmap]
rs16847575	1.00[CHB][hapmap]
rs16847580	1.00[CHB][hapmap]
rs17343912	1.00[CHB][hapmap]
rs17343932	1.00[CHB][hapmap]
rs17344065	1.00[CHB][hapmap]
rs17415969	1.00[CHB][hapmap]
rs17416172	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17416263	0.82[CEU][hapmap]
rs2139939	1.00[CHB][hapmap]
rs2139940	1.00[CHB][hapmap]
rs2371476	0.82[CEU][hapmap]
rs4423551	1.00[ASN][1000 genomes]
rs4672634	1.00[CHB][hapmap]
rs4672636	1.00[CHB][hapmap]
rs6435691	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712126	1.00[CHB][hapmap]
rs7424712	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7574462	1.00[CHB][hapmap]
rs7582903	1.00[CHB][hapmap]
rs939645	1.00[CHB][hapmap]
rs9678219	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875804	chr2:212891401-212997024	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2371444	BARD1	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212972600-212976000	Enhancers	HUVEC	blood vessel
2	chr2:212973000-212976200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:212973600-212976000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:212973600-212976000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:212973600-212976000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:212973800-212976400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:212974000-212977800	Enhancers	Fetal Intestine Small	intestine
8	chr2:212974400-212978600	Weak transcription	Fetal Heart	heart
9	chr2:212974600-212976000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:212974600-212977600	Enhancers	Fetal Intestine Large	intestine
11	chr2:212975200-212976000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:212975200-212976200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:212975200-212981800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:212975200-212982200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:212975200-212982400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:212975400-212976200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:212975400-212984800	Weak transcription	Aorta	Aorta
18	chr2:212975600-212982600	Weak transcription	Brain Substantia Nigra	brain

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