Variant report

Variant	rs12071016
Chromosome Location	chr1:113974344-113974345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12132889	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12354140	0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12354322	0.83[AMR][1000 genomes]
rs12739961	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1342650	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17507114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2186051	0.86[ASN][1000 genomes]
rs2359412	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs35724759	0.80[AMR][1000 genomes]
rs6685909	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6688796	0.95[ASN][1000 genomes]
rs71662825	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71662826	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[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	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 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	chr1:113940200-113987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:113966800-113986600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:113967400-113977400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:113970000-113986600	Weak transcription	Esophagus	oesophagus
5	chr1:113972200-113976800	Weak transcription	Right Atrium	heart
6	chr1:113972600-113976800	Weak transcription	Left Ventricle	heart
7	chr1:113972600-113980600	Weak transcription	Psoas Muscle	Psoas
8	chr1:113973200-113976000	Weak transcription	HepG2	liver
9	chr1:113973400-113975800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:113973400-113975800	Weak transcription	Stomach Mucosa	stomach
11	chr1:113973800-113974800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:113973800-113975800	Weak transcription	Liver	Liver
13	chr1:113974000-113980600	Weak transcription	Pancreas	Pancrea
14	chr1:113974200-113976600	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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