Variant report

Variant	rs1374530
Chromosome Location	chr4:106523977-106523978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10020712	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10023798	0.88[YRI][hapmap];0.83[AMR][1000 genomes]
rs10516519	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721732	0.84[MEX][hapmap]
rs1447097	0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2305212	0.84[MEX][hapmap]
rs28536076	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3796920	0.85[YRI][hapmap];0.81[AMR][1000 genomes]
rs4324546	0.84[MEX][hapmap]
rs4326019	0.84[MEX][hapmap]
rs56009808	0.93[ASN][1000 genomes]
rs59428412	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833345	0.88[ASW][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs715706	0.83[ASW][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.86[TSI][hapmap];0.93[ASN][1000 genomes]
rs722496	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs72669965	0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106509000-106540400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:106516000-106553000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:106516400-106545600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:106518200-106524400	Weak transcription	Lung	lung
5	chr4:106518200-106524400	Weak transcription	Pancreas	Pancrea
6	chr4:106520200-106526400	Weak transcription	NHEK	skin
7	chr4:106521200-106526800	Weak transcription	Stomach Mucosa	stomach
8	chr4:106521400-106526800	Weak transcription	Fetal Intestine Small	intestine
9	chr4:106521600-106526600	Weak transcription	Fetal Heart	heart
10	chr4:106521800-106526400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:106521800-106545600	Weak transcription	Right Atrium	heart
12	chr4:106523400-106526400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:106523600-106524000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:106523600-106525400	Strong transcription	Fetal Intestine Large	intestine
15	chr4:106523800-106528800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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