Variant report

Variant	rs851143
Chromosome Location	chr1:223398948-223398949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1071171	0.89[EUR][1000 genomes]
rs34424827	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs851149	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs851207	0.83[EUR][1000 genomes]
rs851216	0.86[EUR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:223390400-223402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:223390400-223406400	Weak transcription	Gastric	stomach
3	chr1:223393200-223407800	Weak transcription	Brain Anterior Caudate	brain
4	chr1:223393400-223402000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:223394000-223400800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:223394600-223406800	Weak transcription	Pancreas	Pancrea
7	chr1:223395400-223399600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:223395600-223401600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:223396000-223402400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:223396600-223408200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:223396800-223400800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:223397600-223401000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:223398000-223399800	Strong transcription	Esophagus	oesophagus
14	chr1:223398800-223399000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:223398800-223401800	Strong transcription	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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