Variant report

Variant	rs2888678
Chromosome Location	chr2:40638360-40638361
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	chr2:40636692..40638934-chr2:40675253..40677147,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10205556	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11901878	0.89[CEU][hapmap];0.94[CHB][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12052649	0.88[JPT][hapmap]
rs12052800	0.80[CHB][hapmap]
rs12105764	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12988659	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs13017237	0.80[CHB][hapmap]
rs13414307	0.87[JPT][hapmap]
rs13418726	0.83[CHB][hapmap]
rs1990609	0.81[CEU][hapmap]
rs2888677	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4366950	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4952621	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs6712702	0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[AMR][1000 genomes]
rs7579930	0.83[CHB][hapmap]
rs7598773	0.96[CEU][hapmap];0.83[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9789739	0.80[CHB][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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1007027	chr2:40627475-40649916	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40623600-40655000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40631800-40639000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:40633000-40639200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:40633200-40639400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:40634000-40639200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:40634800-40644800	Weak transcription	Left Ventricle	heart
7	chr2:40634800-40645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:40635200-40639600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:40635800-40639200	Weak transcription	HSMM	muscle
10	chr2:40635800-40639600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:40635800-40639800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:40635800-40643800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:40635800-40652600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:40636000-40639600	Weak transcription	NHDF-Ad	bronchial
15	chr2:40636000-40645600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:40636200-40646000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:40637000-40639200	Enhancers	Fetal Heart	heart
18	chr2:40637000-40639200	Weak transcription	HMEC	breast
19	chr2:40637000-40645600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:40637200-40645600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:40637200-40646000	Weak transcription	Right Ventricle	heart
22	chr2:40637200-40649000	Weak transcription	Dnd41	blood
23	chr2:40637400-40639600	Weak transcription	Osteobl	bone
24	chr2:40637400-40643600	Weak transcription	Colon Smooth Muscle	Colon

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