Variant report

Variant	rs6493153
Chromosome Location	chr15:45773925-45773926
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs1005072	1.00[EUR][1000 genomes]
rs10152775	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10152792	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1153836	1.00[EUR][1000 genomes]
rs1153837	1.00[EUR][1000 genomes]
rs1153839	1.00[EUR][1000 genomes]
rs1153840	1.00[EUR][1000 genomes]
rs1153841	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1153842	1.00[EUR][1000 genomes]
rs1153843	1.00[EUR][1000 genomes]
rs1153844	1.00[EUR][1000 genomes]
rs1288647	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288848	1.00[EUR][1000 genomes]
rs1288849	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1288850	1.00[EUR][1000 genomes]
rs1288851	1.00[EUR][1000 genomes]
rs1288853	1.00[EUR][1000 genomes]
rs1288854	1.00[EUR][1000 genomes]
rs1288855	1.00[EUR][1000 genomes]
rs1288856	1.00[EUR][1000 genomes]
rs1288857	1.00[EUR][1000 genomes]
rs1288858	1.00[EUR][1000 genomes]
rs1288859	1.00[EUR][1000 genomes]
rs1288864	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1295500	1.00[EUR][1000 genomes]
rs1295501	1.00[EUR][1000 genomes]
rs13376	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs1426933	1.00[EUR][1000 genomes]
rs1426934	1.00[EUR][1000 genomes]
rs1442797	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs1529353	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1529354	0.83[ASW][hapmap];1.00[CHD][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1547488	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1547489	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1547490	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1559891	1.00[EUR][1000 genomes]
rs1559892	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629849	1.00[EUR][1000 genomes]
rs1629871	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1648875	1.00[EUR][1000 genomes]
rs16943587	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16943691	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16943731	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs16944196	1.00[ASW][hapmap];1.00[CHD][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16944305	0.83[ASW][hapmap];1.00[CHD][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16945588	1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs16945605	0.93[AMR][1000 genomes]
rs1768457	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1834689	1.00[EUR][1000 genomes]
rs1834691	1.00[EUR][1000 genomes]
rs1970374	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2059661	1.00[EUR][1000 genomes]
rs2059662	1.00[EUR][1000 genomes]
rs2120016	0.85[YRI][hapmap]
rs2412958	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433613	1.00[EUR][1000 genomes]
rs2433614	1.00[EUR][1000 genomes]
rs2433615	1.00[EUR][1000 genomes]
rs2433622	1.00[EUR][1000 genomes]
rs2433623	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433624	1.00[EUR][1000 genomes]
rs2433625	1.00[EUR][1000 genomes]
rs2433626	1.00[EUR][1000 genomes]
rs2433627	1.00[EUR][1000 genomes]
rs2433628	1.00[EUR][1000 genomes]
rs2453514	1.00[EUR][1000 genomes]
rs2453516	1.00[EUR][1000 genomes]
rs2453517	1.00[EUR][1000 genomes]
rs2453519	1.00[EUR][1000 genomes]
rs2453520	1.00[EUR][1000 genomes]
rs2453521	1.00[EUR][1000 genomes]
rs2453549	1.00[EUR][1000 genomes]
rs2467861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467874	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2467875	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2467876	1.00[EUR][1000 genomes]
rs2467878	1.00[EUR][1000 genomes]
rs2467879	1.00[EUR][1000 genomes]
rs2467880	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2467882	1.00[EUR][1000 genomes]
rs2467883	1.00[EUR][1000 genomes]
rs2467884	1.00[EUR][1000 genomes]
rs2467885	1.00[EUR][1000 genomes]
rs2467886	1.00[EUR][1000 genomes]
rs2467887	1.00[EUR][1000 genomes]
rs2467889	1.00[EUR][1000 genomes]
rs2486279	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486283	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2486284	1.00[EUR][1000 genomes]
rs3858908	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4598849	0.86[AMR][1000 genomes]
rs57255527	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57263027	0.93[AMR][1000 genomes]
rs57421622	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57668312	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58694071	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60561729	0.86[AMR][1000 genomes]
rs61169737	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61756712	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs679569	1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs7163098	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7165846	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7166434	0.83[ASW][hapmap];1.00[CHD][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7168313	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7168672	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7170941	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7173046	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7183382	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs719018	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs719019	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs73410550	1.00[EUR][1000 genomes]
rs73410575	1.00[EUR][1000 genomes]
rs73410577	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412436	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412437	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412438	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412440	1.00[EUR][1000 genomes]
rs73412443	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412445	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412447	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412449	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412452	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412453	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412454	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412456	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412457	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412459	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412460	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412462	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412463	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412466	1.00[EUR][1000 genomes]
rs73412467	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412470	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412473	1.00[EUR][1000 genomes]
rs73412479	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412484	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412488	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412490	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73414454	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73414486	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416403	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416407	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416479	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416484	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73416487	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420427	0.86[AMR][1000 genomes]
rs73420437	0.86[AMR][1000 genomes]
rs73420438	0.86[AMR][1000 genomes]
rs73420456	0.86[AMR][1000 genomes]
rs7342662	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs7495403	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs751819	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs8025600	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs8027324	0.86[AMR][1000 genomes]
rs8029983	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8034420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042179	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8042662	0.86[AMR][1000 genomes]
rs937323	1.00[EUR][1000 genomes]
rs937324	1.00[EUR][1000 genomes]
rs937325	1.00[EUR][1000 genomes]
rs9672808	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1523	chr15:45749900-45783825	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45750800-45781000	Weak transcription	Stomach Mucosa	stomach
2	chr15:45751200-45801600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:45754200-45801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:45757000-45794600	Weak transcription	Colonic Mucosa	Colon
5	chr15:45757000-45801800	Weak transcription	Gastric	stomach
6	chr15:45763400-45777200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr15:45767200-45813600	Weak transcription	Psoas Muscle	Psoas
8	chr15:45767400-45781000	Weak transcription	Lung	lung
9	chr15:45767600-45775600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr15:45767600-45775600	Weak transcription	Esophagus	oesophagus
11	chr15:45768200-45780200	Weak transcription	Fetal Stomach	stomach
12	chr15:45768800-45776000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr15:45769200-45781400	Weak transcription	Osteobl	bone
14	chr15:45769200-45812000	Weak transcription	Small Intestine	intestine
15	chr15:45769400-45775600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:45769400-45778000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:45769400-45791800	Weak transcription	NH-A	brain
18	chr15:45769400-45794600	Weak transcription	Fetal Intestine Small	intestine
19	chr15:45769400-45794800	Weak transcription	Ovary	ovary
20	chr15:45769400-45813000	Weak transcription	Fetal Intestine Large	intestine
21	chr15:45769600-45779200	Weak transcription	Liver	Liver
22	chr15:45769600-45780000	Weak transcription	Left Ventricle	heart
23	chr15:45769800-45778400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:45769800-45794600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:45770200-45780000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr15:45770200-45781000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:45770800-45779600	Weak transcription	Colon Smooth Muscle	Colon
28	chr15:45771000-45775600	Weak transcription	Primary T cells from cord blood	blood
29	chr15:45771000-45778000	Weak transcription	Aorta	Aorta
30	chr15:45771000-45813400	Weak transcription	Right Ventricle	heart
31	chr15:45771200-45777200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:45771200-45814000	Weak transcription	Placenta	Placenta
33	chr15:45771400-45780200	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:45771600-45777000	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:45771800-45778400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:45772000-45779400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:45772000-45801600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr15:45772200-45779200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:45772200-45791000	Weak transcription	HSMM	muscle
40	chr15:45772600-45774000	Strong transcription	Adipose Nuclei	Adipose
41	chr15:45772800-45774000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
42	chr15:45773000-45774000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr15:45773000-45774000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr15:45773000-45775000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr15:45773200-45777200	Weak transcription	Primary B cells from cord blood	blood
46	chr15:45773200-45814000	Weak transcription	Pancreas	Pancrea
47	chr15:45773400-45777000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:45773400-45779400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:45773400-45790600	Weak transcription	HSMMtube	muscle
50	chr15:45773600-45779400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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