Variant report

Variant	rs315930
Chromosome Location	chr2:113869554-113869555
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11123162	0.90[ASN][1000 genomes]
rs1630153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2087705	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs315927	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315933	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849153	0.93[ASN][1000 genomes]
rs56341434	0.82[ASN][1000 genomes]
rs58965312	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1003928	chr2:113846503-113887782	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113868200-113871400	Weak transcription	Gastric	stomach
2	chr2:113868600-113870800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:113868600-113875400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:113869000-113869600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr2:113869000-113869600	Enhancers	Primary B cells from cord blood	blood
6	chr2:113869000-113870200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:113869000-113870400	Enhancers	Liver	Liver
8	chr2:113869000-113870400	Enhancers	Placenta	Placenta
9	chr2:113869000-113870400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr2:113869000-113870600	Bivalent Enhancer	HepG2	liver
11	chr2:113869200-113869600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:113869200-113870400	Enhancers	NHEK	skin
13	chr2:113869200-113872400	Enhancers	Esophagus	oesophagus
14	chr2:113869400-113869600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:113869400-113869800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:113869400-113870000	Weak transcription	Spleen	Spleen
17	chr2:113869400-113870200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:113869400-113870400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:113869400-113873000	Weak transcription	Stomach Mucosa	stomach

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

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