Variant report

Variant	rs315935
Chromosome Location	chr2:113881365-113881366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113835706..113838400-chr2:113880453..113883939,3	MCF-7	breast:
2	chr2:113880075..113882309-chr2:113914138..113916361,2	MCF-7	breast:
3	chr2:113874395..113876014-chr2:113879125..113882509,3	K562	blood:
4	chr2:113881134..113884097-chr2:113960459..113963321,2	K562	blood:

Variant related genes	Relation type
ENSG00000136689	Chromatin interaction
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1586815	1.00[EUR][1000 genomes]
rs1794067	0.83[YRI][hapmap]
rs2172189	1.00[EUR][1000 genomes]
rs2248588	1.00[EUR][1000 genomes]
rs2248596	1.00[EUR][1000 genomes]
rs2248600	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2248604	1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254511	1.00[ASW][hapmap];0.91[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs2853628	0.81[YRI][hapmap]
rs28928281	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28928283	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28928291	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28928299	1.00[EUR][1000 genomes]
rs28928300	1.00[EUR][1000 genomes]
rs28928301	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28928302	1.00[EUR][1000 genomes]
rs28928304	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28928305	1.00[EUR][1000 genomes]
rs28928306	1.00[EUR][1000 genomes]
rs28929168	1.00[EUR][1000 genomes]
rs3099479	1.00[EUR][1000 genomes]
rs315936	0.83[YRI][hapmap]
rs315937	1.00[EUR][1000 genomes]
rs315938	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315940	0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315941	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315944	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315950	0.83[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315954	0.81[AFR][1000 genomes]
rs315955	1.00[EUR][1000 genomes]
rs4848315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6735388	1.00[EUR][1000 genomes]
rs6761821	1.00[EUR][1000 genomes]
rs7573950	1.00[EUR][1000 genomes]
rs923692	1.00[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	nsv1013513	chr2:113876914-113893482	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113875400-113887400	Weak transcription	Spleen	Spleen
2	chr2:113876000-113887400	Weak transcription	Gastric	stomach
3	chr2:113876000-113896200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:113876200-113881400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:113876600-113885000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:113877200-113881600	Weak transcription	HMEC	breast
7	chr2:113877600-113881600	Weak transcription	Stomach Mucosa	stomach
8	chr2:113879000-113881400	Weak transcription	GM12878-XiMat	blood
9	chr2:113879400-113881400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:113879600-113881400	Weak transcription	NHEK	skin
11	chr2:113879800-113885200	Weak transcription	Esophagus	oesophagus
12	chr2:113880000-113881600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:113880400-113882200	Enhancers	HepG2	liver
14	chr2:113880800-113881400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:113880800-113882000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:113880800-113882200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:113880800-113882800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:113880800-113882800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:113881000-113881400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr2:113881000-113881600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:113881000-113882000	Enhancers	Duodenum Mucosa	Duodenum
22	chr2:113881000-113882800	Enhancers	Primary hematopoietic stem cells	blood
23	chr2:113881200-113882000	Weak transcription	Lung	lung
24	chr2:113881200-113883200	Weak transcription	Liver	Liver
25	chr2:113881200-113884600	Enhancers	Primary B cells from cord blood	blood

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