Variant report

Variant	rs487119
Chromosome Location	chr2:40488877-40488878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13021772	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs13419087	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs2373823	0.90[CEU][hapmap];0.87[CHB][hapmap]
rs2540903	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs368248	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs381627	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs391378	0.89[CEU][hapmap];0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs403630	0.87[CHB][hapmap]
rs410259	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs421576	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs422483	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap]
rs429098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][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	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	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
3	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
4	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
5	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
6	nsv524586	chr2:40447587-40497501	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873912	chr2:40468418-40492315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40451400-40490000	Weak transcription	Dnd41	blood
2	chr2:40478800-40496600	Weak transcription	Right Ventricle	heart
3	chr2:40478800-40499600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:40482400-40490200	Weak transcription	Aorta	Aorta
5	chr2:40483200-40490200	Enhancers	Fetal Heart	heart
6	chr2:40485800-40492800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:40486800-40490200	Weak transcription	Left Ventricle	heart
8	chr2:40487600-40499600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:40487600-40503200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:40487600-40505600	Weak transcription	HSMM	muscle
11	chr2:40487800-40492200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:40487800-40499800	Weak transcription	Osteobl	bone
13	chr2:40487800-40502600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:40488000-40489000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:40488200-40506200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:40488400-40492000	Weak transcription	Fetal Intestine Large	intestine
17	chr2:40488400-40492000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:40488400-40498200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:40488600-40502800	Weak transcription	Primary monocytes fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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