Variant report

Variant	rs421576
Chromosome Location	chr2:40490009-40490010
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10190842	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13021772	0.81[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13419087	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs23055	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2373823	0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2540903	0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs34779218	0.91[ASN][1000 genomes]
rs368248	0.94[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs381627	0.88[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs391378	0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs392325	0.88[ASN][1000 genomes]
rs403630	0.93[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs410259	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs415596	0.92[ASN][1000 genomes]
rs422483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs427788	0.89[ASN][1000 genomes]
rs429098	0.93[CHB][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs485253	0.94[ASN][1000 genomes]
rs487119	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs580448	0.86[ASN][1000 genomes]
rs61486102	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

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:18 , 50 per page) page: 1

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

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