Variant report

Variant	rs315933
Chromosome Location	chr2:113869999-113870000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113858124..113860722-chr2:113869121..113871284,2	K562	blood:
2	chr2:113869175..113871959-chr2:113873300..113875521,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136689	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11123162	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11677397	0.81[EUR][1000 genomes]
rs16065	0.81[EUR][1000 genomes]
rs1630153	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2087705	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2234676	0.81[EUR][1000 genomes]
rs2234677	0.81[EUR][1000 genomes]
rs2234678	0.81[EUR][1000 genomes]
rs2234679	0.81[EUR][1000 genomes]
rs315927	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315930	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs315931	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251967	0.82[EUR][1000 genomes]
rs4251968	0.81[EUR][1000 genomes]
rs4251969	0.81[EUR][1000 genomes]
rs4251970	0.81[EUR][1000 genomes]
rs4251974	0.80[EUR][1000 genomes]
rs4251980	0.81[EUR][1000 genomes]
rs4251981	0.81[EUR][1000 genomes]
rs4251983	0.81[EUR][1000 genomes]
rs4251984	0.81[EUR][1000 genomes]
rs4251985	0.81[EUR][1000 genomes]
rs4251986	0.81[EUR][1000 genomes]
rs4849153	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56341434	0.81[ASN][1000 genomes]
rs58965312	0.81[ASN][1000 genomes]
rs878972	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv979338	chr2:113869830-113880320	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:113869000-113870200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:113869000-113870400	Enhancers	Liver	Liver
6	chr2:113869000-113870400	Enhancers	Placenta	Placenta
7	chr2:113869000-113870400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:113869000-113870600	Bivalent Enhancer	HepG2	liver
9	chr2:113869200-113870400	Enhancers	NHEK	skin
10	chr2:113869200-113872400	Enhancers	Esophagus	oesophagus
11	chr2:113869400-113870000	Weak transcription	Spleen	Spleen
12	chr2:113869400-113870200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:113869400-113870400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:113869400-113873000	Weak transcription	Stomach Mucosa	stomach
15	chr2:113869600-113870000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr2:113869800-113870200	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:113869800-113871600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:113869800-113872400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:113869800-113873400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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