Variant report

Variant	rs4852287
Chromosome Location	chr2:72503373-72503374
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1003672	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10168145	0.91[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10173381	1.00[CHB][hapmap]
rs10186080	1.00[CHB][hapmap]
rs10190674	1.00[CHB][hapmap]
rs10192800	1.00[CHB][hapmap]
rs10196589	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs10203965	1.00[CHB][hapmap]
rs10204415	1.00[CHB][hapmap]
rs10205108	0.90[CEU][hapmap];0.92[EUR][1000 genomes]
rs10207299	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs10209861	0.80[AMR][1000 genomes]
rs10221769	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs11126363	0.88[EUR][1000 genomes]
rs11126366	1.00[CHB][hapmap]
rs1159763	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs1159764	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs1159765	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs1159766	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs11690734	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11694921	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11902025	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12466613	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs12467816	1.00[CHB][hapmap]
rs12468057	1.00[CHB][hapmap]
rs12471875	1.00[CHB][hapmap]
rs12476397	1.00[CHB][hapmap]
rs13383535	1.00[CHB][hapmap]
rs13390754	1.00[CHB][hapmap]
rs13409513	1.00[CHB][hapmap]
rs13409641	1.00[CHB][hapmap]
rs13418637	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs13432350	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs1400582	1.00[CHB][hapmap]
rs1568145	1.00[CHB][hapmap]
rs2109960	1.00[CHB][hapmap]
rs2109961	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2192014	1.00[CHB][hapmap]
rs2192015	1.00[CHB][hapmap]
rs2203679	1.00[CHB][hapmap]
rs2420442	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2420444	1.00[CHB][hapmap]
rs2901144	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2901146	1.00[CHB][hapmap]
rs3115351	1.00[CHB][hapmap]
rs4852286	1.00[CHB][hapmap]
rs4852288	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs585653	1.00[CHB][hapmap]
rs587431	1.00[CHB][hapmap]
rs587744	1.00[CHB][hapmap]
rs589547	1.00[CHB][hapmap]
rs590252	1.00[CHB][hapmap]
rs590345	1.00[CHB][hapmap]
rs598138	1.00[CHB][hapmap]
rs598496	1.00[CHB][hapmap]
rs602465	1.00[CHB][hapmap]
rs613880	1.00[CHB][hapmap]
rs614653	1.00[CHB][hapmap]
rs625434	1.00[CHB][hapmap]
rs628432	1.00[CHB][hapmap]
rs630241	1.00[CHB][hapmap]
rs634476	1.00[CHB][hapmap]
rs634574	1.00[CHB][hapmap]
rs634785	1.00[CHB][hapmap]
rs634929	1.00[CHB][hapmap]
rs636319	1.00[CHB][hapmap]
rs636734	1.00[CHB][hapmap]
rs638854	1.00[CHB][hapmap]
rs640610	1.00[CHB][hapmap]
rs641123	1.00[CHB][hapmap]
rs641939	1.00[CHB][hapmap]
rs642652	1.00[CHB][hapmap]
rs645489	1.00[CHB][hapmap]
rs646357	1.00[CHB][hapmap]
rs647242	1.00[CHB][hapmap]
rs647269	1.00[CHB][hapmap]
rs6546752	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs6546756	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6546760	1.00[CHB][hapmap]
rs6546764	1.00[CHB][hapmap]
rs6546765	1.00[CHB][hapmap]
rs656370	1.00[CHB][hapmap]
rs656440	1.00[CHB][hapmap]
rs658067	1.00[CHB][hapmap]
rs659833	1.00[CHB][hapmap]
rs663218	1.00[CHB][hapmap]
rs666233	1.00[CHB][hapmap]
rs666361	1.00[CHB][hapmap]
rs669074	1.00[CHB][hapmap]
rs6709109	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6709114	0.89[EUR][1000 genomes]
rs6711265	0.91[EUR][1000 genomes]
rs671721	1.00[CHB][hapmap]
rs6722637	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6729863	0.91[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6733210	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs6742264	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs674863	1.00[CHB][hapmap]
rs6752122	1.00[CHB][hapmap]
rs6753073	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6758462	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs678684	1.00[CHB][hapmap]
rs680380	1.00[CHB][hapmap]
rs680495	1.00[CHB][hapmap]
rs681574	1.00[CHB][hapmap]
rs687325	1.00[CHB][hapmap]
rs687371	1.00[CHB][hapmap]
rs688433	1.00[CHB][hapmap]
rs689154	1.00[CHB][hapmap]
rs719118	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7558686	1.00[CHB][hapmap]
rs7558919	1.00[CHB][hapmap]
rs7559131	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs7568803	1.00[CHB][hapmap]
rs7577877	1.00[CHB][hapmap]
rs7583271	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7594350	1.00[CHB][hapmap]
rs7595180	1.00[CHB][hapmap]
rs7603966	1.00[CHB][hapmap]
rs9309463	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs9309464	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72489200-72508200	Weak transcription	Aorta	Aorta
2	chr2:72497200-72503400	Enhancers	Fetal Intestine Large	intestine
3	chr2:72497400-72505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:72499400-72507800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:72499400-72507800	Weak transcription	Psoas Muscle	Psoas
6	chr2:72499600-72510400	Weak transcription	Right Ventricle	heart
7	chr2:72499800-72505200	Weak transcription	NHEK	skin
8	chr2:72500600-72503600	Enhancers	Brain Substantia Nigra	brain
9	chr2:72501000-72505800	Weak transcription	Pancreas	Pancrea
10	chr2:72501600-72503400	Enhancers	Fetal Heart	heart
11	chr2:72501600-72503400	Weak transcription	NH-A	brain
12	chr2:72501600-72503600	Enhancers	Brain Hippocampus Middle	brain
13	chr2:72502200-72503400	Enhancers	Small Intestine	intestine
14	chr2:72502200-72504200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:72502200-72505400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:72502400-72503600	Enhancers	Ovary	ovary
17	chr2:72502400-72503600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:72502400-72504200	Enhancers	A549	lung
19	chr2:72502600-72503800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:72502800-72503400	Enhancers	Right Atrium	heart
21	chr2:72502800-72505200	Weak transcription	Hela-S3	cervix
22	chr2:72502800-72505800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:72502800-72507800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:72502800-72507800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:72503000-72503400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr2:72503000-72503400	Enhancers	Gastric	stomach
27	chr2:72503000-72504200	Weak transcription	Fetal Intestine Small	intestine
28	chr2:72503000-72504800	Enhancers	Left Ventricle	heart
29	chr2:72503000-72505600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:72503000-72506200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:72503200-72503400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:72503200-72503600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:72503200-72504200	Weak transcription	Brain Germinal Matrix	brain
34	chr2:72503200-72505600	Enhancers	Osteobl	bone

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