Variant report

Variant	rs12643428
Chromosome Location	chr4:89757305-89757306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10011267	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10023099	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10024506	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13115763	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28514678	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2904255	0.82[ASN][1000 genomes]
rs56158219	0.86[EUR][1000 genomes]
rs59473955	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60955950	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872126	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7660000	0.97[EUR][1000 genomes]
rs7682431	0.81[ASN][1000 genomes]
rs9991039	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89745000-89764200	Weak transcription	Ovary	ovary
2	chr4:89745000-89764800	Weak transcription	Pancreas	Pancrea
3	chr4:89745000-89770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:89745000-89775000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:89745200-89776200	Weak transcription	Aorta	Aorta
6	chr4:89745400-89759000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:89749000-89769600	Weak transcription	K562	blood
8	chr4:89752000-89763600	Weak transcription	Small Intestine	intestine
9	chr4:89752000-89764000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:89752000-89778800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:89752800-89761200	Weak transcription	Fetal Intestine Large	intestine
12	chr4:89752800-89769200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:89754400-89758000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:89754400-89763200	Weak transcription	Fetal Lung	lung
15	chr4:89754600-89779600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:89755400-89763600	Weak transcription	Fetal Intestine Small	intestine
17	chr4:89756400-89763400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:89756400-89767400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:89756600-89764800	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:89757200-89764400	Weak transcription	Placenta	Placenta

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