Variant report

Variant	rs1517185
Chromosome Location	chr2:72733126-72733127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 188 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs10173381	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10183056	1.00[CHB][hapmap]
rs10186080	1.00[CHB][hapmap]
rs10190674	1.00[CHB][hapmap]
rs10194216	1.00[ASN][1000 genomes]
rs10203965	1.00[CHB][hapmap]
rs10206555	1.00[CHB][hapmap]
rs1032982	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs10460572	1.00[CHB][hapmap]
rs10865391	1.00[CHB][hapmap]
rs11126366	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11126370	1.00[CHB][hapmap]
rs11126373	1.00[CHB][hapmap]
rs11126374	1.00[CHB][hapmap]
rs11126376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677707	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11684985	1.00[CHB][hapmap]
rs11685114	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11686713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052508	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12471136	1.00[CHB][hapmap]
rs12471312	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476130	1.00[CHB][hapmap]
rs12476397	1.00[CHB][hapmap]
rs12618390	1.00[CHB][hapmap]
rs12713772	1.00[CHB][hapmap]
rs12713773	1.00[CHB][hapmap]
rs12713774	1.00[CHB][hapmap]
rs12992973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996319	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12998681	1.00[CHB][hapmap]
rs13006497	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13008041	1.00[CHB][hapmap]
rs13008258	1.00[CHB][hapmap]
rs13011477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383535	1.00[CHB][hapmap]
rs13390754	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1400581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400582	1.00[CHB][hapmap]
rs1446887	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1446888	1.00[CHB][hapmap]
rs1446890	1.00[CHB][hapmap]
rs1446891	1.00[CHB][hapmap]
rs1446892	1.00[CHB][hapmap]
rs1446893	1.00[CHB][hapmap]
rs1446895	1.00[CHB][hapmap]
rs1446896	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1517181	1.00[CHB][hapmap]
rs1568145	1.00[CHB][hapmap]
rs1596930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1596931	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1711838	1.00[CHB][hapmap]
rs1947118	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138683	1.00[CHB][hapmap]
rs2203679	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420444	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2901146	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115351	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4364045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852291	1.00[CHB][hapmap]
rs4852292	1.00[CHB][hapmap]
rs4852293	1.00[CHB][hapmap]
rs4852872	1.00[CHB][hapmap]
rs4852873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852874	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852875	1.00[CHB][hapmap]
rs4852876	1.00[CHB][hapmap]
rs4852877	1.00[CHB][hapmap]
rs4852878	1.00[CHB][hapmap]
rs4852879	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4852880	1.00[CHB][hapmap]
rs4852883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4852886	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4852888	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4852889	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4852890	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs56298436	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs583119	1.00[ASN][1000 genomes]
rs583673	1.00[CHB][hapmap]
rs584522	1.00[ASN][1000 genomes]
rs585653	1.00[CHB][hapmap]
rs585938	1.00[CHB][hapmap]
rs587431	1.00[CHB][hapmap]
rs587744	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs589547	0.90[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590252	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs590345	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598138	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs598496	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs602465	1.00[CHB][hapmap]
rs613880	1.00[CHB][hapmap]
rs614653	1.00[CHB][hapmap]
rs620770	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625434	1.00[CHB][hapmap]
rs628432	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs629539	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs630241	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs632670	1.00[CHB][hapmap]
rs634476	1.00[CHB][hapmap]
rs634574	1.00[CHB][hapmap]
rs634586	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
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];1.00[ASN][1000 genomes]
rs639843	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs640610	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs641123	1.00[CHB][hapmap]
rs641939	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs642652	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs645489	1.00[CHB][hapmap]
rs646357	1.00[CHB][hapmap]
rs647242	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647269	1.00[CHB][hapmap]
rs650352	1.00[CHB][hapmap]
rs653220	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546759	1.00[ASN][1000 genomes]
rs6546760	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6546764	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6546765	1.00[CHB][hapmap]
rs6546777	1.00[CHB][hapmap]
rs6546778	1.00[CHB][hapmap]
rs6546779	1.00[CHB][hapmap]
rs6546781	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs656370	1.00[CHB][hapmap]
rs656440	1.00[CHB][hapmap]
rs658067	1.00[CHB][hapmap]
rs659833	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs663218	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs666233	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs666361	1.00[CHB][hapmap]
rs668586	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669074	1.00[CHB][hapmap]
rs6711265	1.00[ASN][1000 genomes]
rs6714312	1.00[ASN][1000 genomes]
rs6714419	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714595	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671721	1.00[CHB][hapmap]
rs6724529	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6737565	1.00[ASN][1000 genomes]
rs6742312	1.00[CHB][hapmap]
rs6747378	1.00[CHB][hapmap]
rs674863	1.00[CHB][hapmap]
rs6750766	1.00[CHB][hapmap]
rs6752122	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6758593	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676078	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs678684	1.00[CHB][hapmap]
rs680380	1.00[CHB][hapmap]
rs680495	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs681574	1.00[CHB][hapmap]
rs683328	1.00[CHB][hapmap]
rs684673	1.00[CHB][hapmap]
rs687325	1.00[CHB][hapmap]
rs687371	1.00[CHB][hapmap]
rs688433	1.00[CHB][hapmap]
rs689154	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7420588	1.00[ASN][1000 genomes]
rs7420667	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558686	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7558919	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7560529	1.00[CHB][hapmap]
rs7563738	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565198	1.00[CHB][hapmap]
rs7568803	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7571064	1.00[CHB][hapmap]
rs7577238	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7580952	1.00[ASN][1000 genomes]
rs7591025	1.00[CHB][hapmap]
rs7591303	1.00[CHB][hapmap]
rs7594350	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7595180	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7595315	1.00[ASN][1000 genomes]
rs7598238	1.00[CHB][hapmap]
rs7600273	1.00[ASN][1000 genomes]
rs7601020	1.00[CHB][hapmap]
rs7601318	1.00[CHB][hapmap]
rs7603966	1.00[CHB][hapmap]
rs9309464	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs983928	1.00[CHB][hapmap]

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	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
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72691600-72741800	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:72692400-72742000	Weak transcription	Small Intestine	intestine
3	chr2:72699600-72744600	Weak transcription	Liver	Liver
4	chr2:72700200-72742600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:72702600-72743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:72703000-72736400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:72703200-72735800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:72703200-72742800	Weak transcription	HSMM	muscle
9	chr2:72703200-72743000	Weak transcription	Pancreas	Pancrea
10	chr2:72703200-72743400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:72703200-72743800	Weak transcription	Brain Anterior Caudate	brain
12	chr2:72703400-72741800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:72703400-72744200	Weak transcription	A549	lung
14	chr2:72703400-72752200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:72703600-72745000	Weak transcription	Fetal Intestine Large	intestine
16	chr2:72707800-72742800	Weak transcription	Fetal Heart	heart
17	chr2:72708000-72744600	Weak transcription	Fetal Lung	lung
18	chr2:72708200-72737000	Weak transcription	Ovary	ovary
19	chr2:72708600-72741800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:72716000-72742400	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:72719200-72745600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:72719600-72735400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:72719600-72736000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:72721800-72736000	Weak transcription	NH-A	brain
25	chr2:72723400-72736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:72725400-72743000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:72725600-72739600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:72725600-72743000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:72725800-72743600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:72726400-72739600	Weak transcription	Placenta	Placenta
31	chr2:72727000-72743600	Weak transcription	Adipose Nuclei	Adipose
32	chr2:72729800-72742800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:72731400-72743000	Weak transcription	Left Ventricle	heart
34	chr2:72731600-72741200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:72732200-72738800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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