Variant report

Variant	rs2270476
Chromosome Location	chr2:211525764-211525765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10932347	1.00[CEU][hapmap]
rs34976026	0.81[ASN][1000 genomes]
rs58927072	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62203741	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62203746	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv536136	chr2:211497528-211830019	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 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	chr2:211498200-211529000	Strong transcription	Hela-S3	cervix
2	chr2:211501000-211540600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:211521000-211526400	Strong transcription	Duodenum Mucosa	Duodenum
4	chr2:211521200-211526600	Strong transcription	Fetal Intestine Large	intestine
5	chr2:211523600-211525800	Weak transcription	Aorta	Aorta
6	chr2:211524200-211526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:211524400-211526600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:211524800-211525800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:211524800-211526400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr2:211525000-211525800	ZNF genes & repeats	HepG2	liver
11	chr2:211525000-211528200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:211525200-211525800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:211525200-211525800	ZNF genes & repeats	Liver	Liver
14	chr2:211525200-211526200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:211525400-211525800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr2:211525400-211525800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr2:211525400-211525800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr2:211525400-211526400	Weak transcription	Ovary	ovary
19	chr2:211525400-211528600	Weak transcription	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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