Variant report

Variant	rs60179096
Chromosome Location	chr2:205473238-205473239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10203725	0.89[ASN][1000 genomes]
rs10932076	0.97[ASN][1000 genomes]
rs10932083	1.00[AMR][1000 genomes]
rs11883548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11887897	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11892599	0.89[ASN][1000 genomes]
rs11901243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11903539	0.97[ASN][1000 genomes]
rs11904034	0.89[ASN][1000 genomes]
rs11904833	0.89[ASN][1000 genomes]
rs12052242	0.97[ASN][1000 genomes]
rs13412566	0.83[ASN][1000 genomes]
rs13414039	0.89[ASN][1000 genomes]
rs16836406	0.95[ASN][1000 genomes]
rs16836425	0.90[ASN][1000 genomes]
rs16836450	1.00[AMR][1000 genomes]
rs17638036	1.00[AMR][1000 genomes]
rs2216320	1.00[AMR][1000 genomes]
rs55775811	0.96[ASN][1000 genomes]
rs56310794	0.96[ASN][1000 genomes]
rs57533510	0.91[ASN][1000 genomes]
rs57675666	0.94[ASN][1000 genomes]
rs59978061	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60317037	0.90[ASN][1000 genomes]
rs61014400	1.00[AMR][1000 genomes]
rs61280844	0.83[ASN][1000 genomes]
rs6731832	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6743282	0.91[ASN][1000 genomes]
rs73057275	0.87[ASN][1000 genomes]
rs73057279	0.89[ASN][1000 genomes]
rs73057289	0.87[ASN][1000 genomes]
rs73059006	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73059007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73059010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73059013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73059018	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73059031	0.91[ASN][1000 genomes]
rs73984241	0.89[ASN][1000 genomes]
rs73984246	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73984251	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73984252	0.97[ASN][1000 genomes]
rs73984257	0.94[ASN][1000 genomes]
rs73984258	0.94[ASN][1000 genomes]
rs7557006	0.94[ASN][1000 genomes]
rs7570984	0.85[ASN][1000 genomes]
rs7575842	0.95[ASN][1000 genomes]
rs7577949	1.00[AMR][1000 genomes];0.86[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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205467400-205477200	Enhancers	Colon Smooth Muscle	Colon
2	chr2:205468600-205475400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:205470000-205475000	Weak transcription	Pancreas	Pancrea
4	chr2:205470800-205474800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:205471200-205473400	Enhancers	Fetal Kidney	kidney
6	chr2:205471200-205474200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:205471600-205473800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr2:205471800-205473800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:205472000-205473600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:205472000-205473600	Enhancers	Liver	Liver
11	chr2:205472000-205473600	Enhancers	Brain Substantia Nigra	brain
12	chr2:205472000-205473600	Enhancers	Fetal Stomach	stomach
13	chr2:205472000-205473800	Enhancers	Adipose Nuclei	Adipose
14	chr2:205472200-205473600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:205472200-205473800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:205472400-205473400	Enhancers	Small Intestine	intestine
17	chr2:205472400-205473600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:205472400-205473600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:205472400-205473600	Enhancers	Brain Anterior Caudate	brain
20	chr2:205472400-205473600	Enhancers	Brain Hippocampus Middle	brain
21	chr2:205472400-205473600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:205472400-205473600	Enhancers	Right Atrium	heart
23	chr2:205472400-205473600	Enhancers	HSMM	muscle
24	chr2:205472400-205473600	Enhancers	HSMMtube	muscle
25	chr2:205472400-205473600	Enhancers	NHDF-Ad	bronchial
26	chr2:205472400-205473600	Enhancers	Osteobl	bone
27	chr2:205472400-205473800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:205472400-205473800	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:205472400-205474000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:205472400-205475600	Enhancers	Ovary	ovary
31	chr2:205472400-205477400	Enhancers	Fetal Intestine Large	intestine
32	chr2:205472600-205473400	Weak transcription	Fetal Intestine Small	intestine
33	chr2:205472600-205473400	Enhancers	Fetal Muscle Leg	muscle
34	chr2:205472600-205473600	Enhancers	Psoas Muscle	Psoas
35	chr2:205472600-205473600	Enhancers	NH-A	brain
36	chr2:205472600-205473600	Enhancers	NHLF	lung
37	chr2:205472600-205473800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:205472800-205473600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:205473000-205473400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:205473000-205473400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:205473000-205473400	Enhancers	Brain Germinal Matrix	brain
42	chr2:205473000-205473600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:205473000-205475600	Weak transcription	Fetal Lung	lung
44	chr2:205473200-205473600	Enhancers	Fetal Brain Male	brain
45	chr2:205473200-205473600	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr2:205473200-205474400	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:205473200-205481000	Weak transcription	Aorta	Aorta

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