Variant report

Variant	rs315936
Chromosome Location	chr2:113880947-113880948
allele	C/T
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	chr2:113875025..113876736-chr2:113878416..113881099,2	MCF-7	breast:
3	chr2:113880075..113882309-chr2:113914138..113916361,2	MCF-7	breast:
4	chr2:113874395..113876014-chr2:113879125..113882509,3	K562	blood:

Variant related genes	Relation type
ENSG00000136689	Chromatin interaction
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11677397	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs128964	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011842	1.00[JPT][hapmap]
rs13030546	1.00[JPT][hapmap]
rs16065	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1630153	0.83[CEU][hapmap]
rs1794065	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234676	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2234677	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2234678	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2234679	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2248600	0.84[YRI][hapmap]
rs2248604	0.83[YRI][hapmap]
rs2254511	0.88[YRI][hapmap]
rs2853628	0.94[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3087271	0.86[CEU][hapmap]
rs315927	0.83[CEU][hapmap]
rs315931	0.82[CEU][hapmap]
rs315935	0.83[YRI][hapmap]
rs315938	0.83[YRI][hapmap]
rs315940	0.83[YRI][hapmap]
rs392503	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408392	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419598	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs423904	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251967	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4251968	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4251969	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251970	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251974	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251975	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251976	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251977	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251978	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251979	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251980	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251981	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251983	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251984	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251985	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4251986	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs431726	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs432014	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs434792	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs440286	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs442710	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs444413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446433	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447713	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs448341	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs451578	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs454078	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs495282	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495410	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579543	0.86[EUR][1000 genomes]
rs598859	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs878972	0.83[AMR][1000 genomes];0.84[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113875400-113887400	Weak transcription	Spleen	Spleen
2	chr2:113875600-113881000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:113875800-113881000	Weak transcription	Lung	lung
4	chr2:113876000-113887400	Weak transcription	Gastric	stomach
5	chr2:113876000-113896200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:113876200-113881400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:113876600-113885000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:113877200-113881600	Weak transcription	HMEC	breast
9	chr2:113877600-113881600	Weak transcription	Stomach Mucosa	stomach
10	chr2:113879000-113881400	Weak transcription	GM12878-XiMat	blood
11	chr2:113879400-113881000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:113879400-113881200	Enhancers	Liver	Liver
13	chr2:113879400-113881400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:113879600-113881400	Weak transcription	NHEK	skin
15	chr2:113879800-113885200	Weak transcription	Esophagus	oesophagus
16	chr2:113880000-113881600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:113880400-113882200	Enhancers	HepG2	liver
18	chr2:113880800-113881000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr2:113880800-113881200	Bivalent Enhancer	Primary B cells from cord blood	blood
20	chr2:113880800-113881400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:113880800-113882000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:113880800-113882200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:113880800-113882800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:113880800-113882800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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