Variant report

Variant	rs415695
Chromosome Location	chr2:40469240-40469241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs105288	0.92[GIH][hapmap];1.00[JPT][hapmap]
rs1641452	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1641458	1.00[JPT][hapmap]
rs1651356	0.85[ASN][1000 genomes]
rs34971853	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36162999	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36184451	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366578	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs368642	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs369140	1.00[JPT][hapmap]
rs371909	0.88[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs372052	1.00[JPT][hapmap]
rs373606	0.90[JPT][hapmap]
rs374159	0.81[ASN][1000 genomes]
rs3749056	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs379410	0.82[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap]
rs379859	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs380082	0.89[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs380975	1.00[JPT][hapmap]
rs383073	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs384511	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs384994	0.82[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs385561	1.00[JPT][hapmap]
rs389109	1.00[JPT][hapmap]
rs389992	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs391631	1.00[JPT][hapmap]
rs391984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs393711	1.00[JPT][hapmap]
rs394112	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs394540	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs399061	0.88[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs401815	0.82[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs402307	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs405884	0.82[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs406222	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs406736	0.81[ASN][1000 genomes]
rs406880	1.00[JPT][hapmap]
rs407267	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs407388	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs407889	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs408009	1.00[JPT][hapmap]
rs413711	1.00[JPT][hapmap]
rs417464	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs417591	1.00[JPT][hapmap]
rs417873	0.82[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs418780	0.90[JPT][hapmap]
rs421870	1.00[JPT][hapmap]
rs426295	1.00[JPT][hapmap]
rs427632	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs428738	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs429227	0.81[ASN][1000 genomes]
rs430314	0.82[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs432769	0.86[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs432981	0.81[ASN][1000 genomes]
rs434082	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs436010	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs439960	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs440155	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs441196	1.00[JPT][hapmap]
rs441413	0.90[JPT][hapmap]
rs441593	1.00[JPT][hapmap]
rs442476	0.81[ASN][1000 genomes]
rs442586	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs443236	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs450116	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs450823	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs451074	0.81[JPT][hapmap]
rs451158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs451811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs452138	0.82[CEU][hapmap];0.88[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4952596	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs505473	1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs581477	0.82[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs581568	0.82[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs588179	0.86[ASN][1000 genomes]
rs615449	0.88[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs666362	0.82[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs674128	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs678107	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679339	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs688673	1.00[JPT][hapmap]
rs72794789	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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
3	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
4	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv524586	chr2:40447587-40497501	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873912	chr2:40468418-40492315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40448000-40487400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40451400-40490000	Weak transcription	Dnd41	blood
3	chr2:40453800-40471000	Weak transcription	Right Ventricle	heart
4	chr2:40453800-40471400	Weak transcription	Right Atrium	heart
5	chr2:40465800-40469600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:40467600-40469400	Weak transcription	Brain Germinal Matrix	brain
7	chr2:40467600-40471000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:40467800-40487400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:40468000-40469400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:40468000-40469400	Weak transcription	HSMMtube	muscle
11	chr2:40468000-40469600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:40468000-40469800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:40468000-40470200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:40468000-40470200	Weak transcription	NH-A	brain
15	chr2:40468000-40470400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:40468000-40470400	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:40468000-40470400	Weak transcription	HSMM	muscle
18	chr2:40468000-40470400	Weak transcription	NHLF	lung
19	chr2:40468000-40470600	Weak transcription	Fetal Stomach	stomach
20	chr2:40468000-40470800	Weak transcription	Left Ventricle	heart
21	chr2:40468000-40470800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:40468000-40471000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:40468000-40471200	Weak transcription	Colonic Mucosa	Colon
24	chr2:40468000-40472000	Weak transcription	Fetal Lung	lung
25	chr2:40468000-40476600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:40468200-40469600	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:40468200-40469800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:40468200-40470000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:40468200-40470200	Weak transcription	Osteobl	bone
30	chr2:40468200-40470400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:40468200-40470600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:40468200-40471000	Weak transcription	Adipose Nuclei	Adipose
33	chr2:40468600-40470000	Weak transcription	NHDF-Ad	bronchial
34	chr2:40468600-40472000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:40468800-40469800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:40468800-40471200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:40468800-40472600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:40469000-40471400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:40469000-40472200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:40469000-40475200	Enhancers	Fetal Heart	heart
41	chr2:40469200-40469400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:40469200-40472000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:40469200-40472200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr2:40469200-40472200	Enhancers	HUES48 Cell Line	embryonic stem cell

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