Variant report

Variant	rs28900694
Chromosome Location	chr2:234737632-234737633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11563230	1.00[AMR][1000 genomes]
rs11900055	0.83[ASN][1000 genomes]
rs13420920	1.00[AMR][1000 genomes]
rs28626554	0.83[CHB][hapmap]
rs2885298	0.83[ASN][1000 genomes]
rs28900677	0.83[CHB][hapmap]
rs28900714	0.92[CHB][hapmap]
rs28900723	0.92[CHB][hapmap]
rs28900724	0.92[CHB][hapmap]
rs28900976	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs3771333	1.00[CHB][hapmap]
rs7591879	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7594566	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv876020	chr2:234724225-234748814	Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv470523	chr2:234725819-234740490	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv876021	chr2:234725819-234748814	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv876022	chr2:234726154-234748814	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv876023	chr2:234726154-234763137	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv984453	chr2:234726749-234740629	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1008316	chr2:234728911-234758539	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234731800-234741200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:234732000-234741200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:234732200-234742000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:234733400-234742200	Weak transcription	Liver	Liver
5	chr2:234736400-234762600	Weak transcription	Right Atrium	heart
6	chr2:234736600-234738000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:234737000-234737800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:234737200-234737800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:234737600-234738000	Weak transcription	Esophagus	oesophagus
10	chr2:234737600-234738000	Enhancers	NHEK	skin
11	chr2:234737600-234738200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:234737600-234738400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:234737600-234739200	Weak transcription	HMEC	breast
14	chr2:234737600-234739400	Enhancers	A549	lung

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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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