Variant report

Variant	rs759359
Chromosome Location	chr2:40329105-40329106
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10183831	0.89[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs2373789	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[ASN][1000 genomes]
rs4952438	0.88[JPT][hapmap]
rs917975	0.88[JPT][hapmap]
rs917976	0.80[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv873903	chr2:40285145-40382712	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40320000-40332200	Enhancers	HSMM	muscle
2	chr2:40320000-40332600	Enhancers	NHDF-Ad	bronchial
3	chr2:40321200-40354600	Weak transcription	Right Ventricle	heart
4	chr2:40322000-40330200	Enhancers	NH-A	brain
5	chr2:40322200-40330200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:40322400-40329600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:40322600-40330200	Weak transcription	Hela-S3	cervix
8	chr2:40322800-40329600	Weak transcription	Fetal Lung	lung
9	chr2:40322800-40350200	Weak transcription	Fetal Brain Male	brain
10	chr2:40323400-40332600	Enhancers	Osteobl	bone
11	chr2:40323600-40330000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:40324800-40329600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:40324800-40330200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:40325200-40330000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:40325200-40330200	Weak transcription	NHEK	skin
16	chr2:40326000-40333600	Enhancers	Fetal Heart	heart
17	chr2:40326400-40331000	Enhancers	Dnd41	blood
18	chr2:40326600-40333400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:40326800-40330200	Enhancers	NHLF	lung
20	chr2:40326800-40330400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:40327000-40329800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:40327000-40331000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:40327200-40329600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:40327200-40330200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:40327200-40331000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:40327400-40330200	Enhancers	HSMMtube	muscle
27	chr2:40327600-40329800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:40327600-40329800	Enhancers	Fetal Thymus	thymus
29	chr2:40327800-40330200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:40327800-40330200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:40327800-40331200	Enhancers	Fetal Stomach	stomach
32	chr2:40327800-40331400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:40328000-40330000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:40328000-40365600	Weak transcription	Brain Germinal Matrix	brain
35	chr2:40328600-40329600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:40328600-40329800	Enhancers	Primary B cells from cord blood	blood
37	chr2:40328600-40329800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:40328600-40330200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:40328800-40329600	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:40328800-40330200	Enhancers	Ovary	ovary
41	chr2:40328800-40331600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:40329000-40329800	Weak transcription	HMEC	breast
43	chr2:40329000-40330400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:40329000-40331000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:40329000-40331200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:40329000-40341400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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