Variant report

Variant	rs4423571
Chromosome Location	chr2:189324727-189324728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10199260	0.85[ASN][1000 genomes]
rs1354902	0.92[ASN][1000 genomes]
rs4667229	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57943055	0.85[ASN][1000 genomes]
rs58633000	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60102741	0.85[ASN][1000 genomes]
rs7569960	1.00[ASN][1000 genomes]
rs7573579	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189306600-189339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:189316000-189324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:189317600-189329400	Weak transcription	Ovary	ovary
4	chr2:189319200-189325600	Weak transcription	Fetal Lung	lung
5	chr2:189319200-189327000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:189319400-189343400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:189321600-189325400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:189321600-189329000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:189321600-189330000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:189321800-189327000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:189321800-189339000	Weak transcription	Fetal Stomach	stomach
12	chr2:189322000-189329000	Weak transcription	Gastric	stomach
13	chr2:189322400-189330400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:189323000-189325400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:189324000-189326600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:189324000-189328200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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