Variant report

Variant	rs315920
Chromosome Location	chr2:113873018-113873019
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	chr2:113873018..113874918-chr2:113881727..113884531,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10199363	0.80[CEU][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap]
rs11693683	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs1618889	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1665186	0.81[EUR][1000 genomes]
rs1665188	0.81[EUR][1000 genomes]
rs1688072	0.80[CEU][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1688077	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs315921	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs315922	0.80[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs315923	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs315924	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs315928	0.80[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs315934	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315946	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs315948	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4252014	0.82[AFR][1000 genomes]
rs67213447	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7574787	0.80[CEU][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv874895	chr2:113870663-113875892	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs315920	IL1F8	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113868600-113875400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:113869800-113873400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:113870200-113873200	Weak transcription	Spleen	Spleen
4	chr2:113870400-113873400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr2:113871400-113873600	Enhancers	Placenta	Placenta
6	chr2:113871400-113874800	Enhancers	NHEK	skin
7	chr2:113871400-113875000	Bivalent Enhancer	HepG2	liver
8	chr2:113871400-113875400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:113871600-113874600	Weak transcription	Gastric	stomach
10	chr2:113871600-113875400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:113871800-113873600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:113871800-113873600	Enhancers	HMEC	breast
13	chr2:113871800-113874600	Enhancers	GM12878-XiMat	blood
14	chr2:113871800-113875400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:113872200-113873200	Bivalent Enhancer	Primary B cells from cord blood	blood
16	chr2:113872600-113873600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:113872600-113875600	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:113872800-113873200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:113872800-113874800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:113872800-113875000	Enhancers	Primary T cells from cord blood	blood
21	chr2:113872800-113875000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:113873000-113873200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr2:113873000-113873200	Weak transcription	Lung	lung
24	chr2:113873000-113873800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:113873000-113874400	Enhancers	Esophagus	oesophagus
26	chr2:113873000-113874600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:113873000-113874800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:113873000-113874800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr2:113873000-113874800	Enhancers	Fetal Thymus	thymus
30	chr2:113873000-113875200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:113873000-113875200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:113873000-113875400	Enhancers	Stomach Mucosa	stomach
33	chr2:113873000-113875600	Enhancers	Primary hematopoietic stem cells	blood
34	chr2:113873000-113875600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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