Variant report

Variant	rs10495787
Chromosome Location	chr2:33600309-33600310
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1017677	0.84[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10198960	0.80[CHB][hapmap]
rs11885449	0.85[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11891105	0.85[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11899010	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13009128	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs13385066	0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13424241	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17012911	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17012917	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs17012922	0.85[CHB][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1869449	0.96[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2015189	0.96[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2290426	0.80[CHB][hapmap]
rs3769549	0.80[CHB][hapmap]
rs3820909	0.90[ASN][1000 genomes]
rs58804388	0.80[ASN][1000 genomes]
rs59136259	0.95[ASN][1000 genomes]
rs59877056	0.95[ASN][1000 genomes]
rs60514603	0.96[ASN][1000 genomes]
rs642472	0.90[LWK][hapmap];0.95[YRI][hapmap]
rs6711211	0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6719824	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7566302	0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33578800-33612200	Weak transcription	Fetal Kidney	kidney
3	chr2:33581400-33602200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:33581600-33611400	Weak transcription	Fetal Stomach	stomach
5	chr2:33582800-33601800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:33586200-33603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:33588400-33624400	Weak transcription	Gastric	stomach
8	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:33590600-33615800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:33590600-33624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:33590800-33612600	Weak transcription	Ovary	ovary
12	chr2:33591400-33616000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:33591800-33601800	Weak transcription	NHLF	lung
14	chr2:33592000-33624800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:33592400-33601600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:33595200-33601400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:33595200-33609200	Weak transcription	Left Ventricle	heart
18	chr2:33596200-33601400	Weak transcription	Aorta	Aorta
19	chr2:33596200-33614400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:33596400-33613800	Weak transcription	Liver	Liver
21	chr2:33596600-33603800	Weak transcription	NH-A	brain
22	chr2:33597000-33609000	Weak transcription	Fetal Heart	heart
23	chr2:33597200-33622200	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:33597400-33600400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:33597400-33603600	Weak transcription	Brain Anterior Caudate	brain
26	chr2:33597400-33610200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:33597600-33601400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:33598000-33603800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:33598200-33605000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:33598400-33600400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:33598400-33600600	Enhancers	Osteobl	bone
32	chr2:33598400-33600800	Enhancers	NHDF-Ad	bronchial
33	chr2:33599000-33600600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:33599200-33600600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:33599200-33600600	Enhancers	Adipose Nuclei	Adipose
36	chr2:33599400-33600600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:33599400-33600600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:33599400-33601600	Weak transcription	HSMM	muscle
39	chr2:33600000-33600600	Enhancers	HUVEC	blood vessel
40	chr2:33600200-33600400	Enhancers	Psoas Muscle	Psoas
41	chr2:33600200-33600400	Enhancers	HSMMtube	muscle
42	chr2:33600200-33600600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:33600200-33600600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:33600200-33600600	Enhancers	Brain Hippocampus Middle	brain
45	chr2:33600200-33600600	Enhancers	Brain Substantia Nigra	brain

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