Variant report

Variant	rs396201
Chromosome Location	chr2:113891775-113891776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113840365..113842107-chr2:113890479..113892989,2	MCF-7	breast:
2	chr2:113840523..113843293-chr2:113890844..113893174,3	MCF-7	breast:
3	chr2:113890768..113892944-chr2:113913806..113916135,2	MCF-7	breast:
4	chr2:113890813..113893082-chr2:113894067..113895922,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16065	1.00[YRI][hapmap]
rs1794068	1.00[YRI][hapmap]
rs3087270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181059	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251970	1.00[YRI][hapmap]
rs4251984	1.00[YRI][hapmap]
rs4251985	1.00[YRI][hapmap]
rs440286	0.83[EUR][1000 genomes]
rs444413	1.00[YRI][hapmap]
rs579543	0.86[EUR][1000 genomes]
rs9005	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113876000-113896200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:113885200-113892200	Strong transcription	Esophagus	oesophagus
3	chr2:113885800-113896200	Weak transcription	Placenta	Placenta
4	chr2:113888600-113892000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
5	chr2:113889200-113892200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:113889400-113892200	Strong transcription	Liver	Liver
7	chr2:113889600-113895000	Weak transcription	Stomach Mucosa	stomach
8	chr2:113890400-113894800	Enhancers	Fetal Thymus	thymus
9	chr2:113890600-113892200	Genic enhancers	HepG2	liver
10	chr2:113890800-113891800	Weak transcription	Lung	lung
11	chr2:113890800-113892000	Enhancers	HMEC	breast
12	chr2:113890800-113892000	Enhancers	NHEK	skin
13	chr2:113890800-113893600	Weak transcription	Gastric	stomach
14	chr2:113890800-113895000	Weak transcription	Spleen	Spleen
15	chr2:113891000-113891800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:113891000-113892000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:113891000-113892000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:113891000-113892200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:113891000-113892200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:113891200-113891800	Enhancers	Fetal Intestine Small	intestine
21	chr2:113891200-113892000	Enhancers	Fetal Intestine Large	intestine
22	chr2:113891200-113893200	Enhancers	Thymus	Thymus
23	chr2:113891400-113892200	Enhancers	Right Atrium	heart
24	chr2:113891600-113894200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:113891600-113896200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:113891600-113896200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:113891600-113896200	Weak transcription	Duodenum Mucosa	Duodenum

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