Variant report

Variant	rs12653000
Chromosome Location	chr5:126393848-126393849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:194)

rs_ID	r²[population]
rs10040840	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs10519919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519922	1.00[EUR][1000 genomes]
rs10519923	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12518420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12651864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12652019	0.91[EUR][1000 genomes]
rs12652390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12652417	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs12653290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12653444	1.00[EUR][1000 genomes]
rs12654313	0.91[EUR][1000 genomes]
rs12654717	1.00[EUR][1000 genomes]
rs12654725	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs12654808	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12655006	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs12655199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655223	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12655258	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs12655319	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12655435	1.00[EUR][1000 genomes]
rs12655605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12655699	0.85[JPT][hapmap]
rs12655726	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs12655928	1.00[CHB][hapmap];1.00[JPT][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]
rs12655991	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12656236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12656537	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12656837	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs12658138	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs12658174	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12658599	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12658608	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12658816	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12658821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12658822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12659476	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12659607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12659614	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12659633	1.00[EUR][1000 genomes]
rs17165192	1.00[EUR][1000 genomes]
rs17165194	1.00[EUR][1000 genomes]
rs17165211	1.00[EUR][1000 genomes]
rs17165228	1.00[CHB][hapmap];1.00[JPT][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]
rs17165234	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs17165239	1.00[EUR][1000 genomes]
rs17165244	0.85[JPT][hapmap]
rs17165248	0.85[JPT][hapmap]
rs17165249	1.00[CHB][hapmap];1.00[JPT][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]
rs17165251	0.85[JPT][hapmap]
rs17762544	0.91[EUR][1000 genomes]
rs17839703	0.92[EUR][1000 genomes]
rs34416835	1.00[EUR][1000 genomes]
rs34738240	1.00[EUR][1000 genomes]
rs35566904	1.00[EUR][1000 genomes]
rs35627668	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36091921	1.00[EUR][1000 genomes]
rs3812061	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4141169	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs4141170	0.85[JPT][hapmap]
rs55792418	1.00[EUR][1000 genomes]
rs55802546	1.00[EUR][1000 genomes]
rs56094173	1.00[EUR][1000 genomes]
rs56122855	0.92[EUR][1000 genomes]
rs56124224	1.00[EUR][1000 genomes]
rs56171951	0.92[EUR][1000 genomes]
rs56272610	1.00[EUR][1000 genomes]
rs56688052	1.00[EUR][1000 genomes]
rs56689722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56786115	1.00[EUR][1000 genomes]
rs57031083	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57032367	1.00[EUR][1000 genomes]
rs57052202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57081850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57113926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57485054	0.82[EUR][1000 genomes]
rs57627287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57700815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57833976	1.00[EUR][1000 genomes]
rs57906418	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57915728	1.00[EUR][1000 genomes]
rs58164143	1.00[EUR][1000 genomes]
rs58249730	0.91[EUR][1000 genomes]
rs58262537	1.00[EUR][1000 genomes]
rs58527455	1.00[EUR][1000 genomes]
rs58646561	1.00[EUR][1000 genomes]
rs58838495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58894799	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59459356	1.00[EUR][1000 genomes]
rs59489123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59643871	1.00[EUR][1000 genomes]
rs59676931	1.00[EUR][1000 genomes]
rs59814275	1.00[EUR][1000 genomes]
rs60045571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60138815	1.00[EUR][1000 genomes]
rs60244211	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60615137	1.00[EUR][1000 genomes]
rs60636815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60781824	1.00[EUR][1000 genomes]
rs60889784	1.00[EUR][1000 genomes]
rs61031864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61258380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61279308	1.00[EUR][1000 genomes]
rs61463824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61496590	0.82[EUR][1000 genomes]
rs61653213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61685918	1.00[EUR][1000 genomes]
rs6595747	0.85[JPT][hapmap]
rs6860581	0.85[JPT][hapmap]
rs6862462	1.00[EUR][1000 genomes]
rs6864607	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs6872893	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs6877692	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs6882025	0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs6883181	1.00[EUR][1000 genomes]
rs6886131	0.85[JPT][hapmap]
rs6888532	1.00[EUR][1000 genomes]
rs6893763	1.00[EUR][1000 genomes]
rs6899030	1.00[EUR][1000 genomes]
rs72505648	0.82[EUR][1000 genomes]
rs73335426	0.82[EUR][1000 genomes]
rs73335444	0.82[EUR][1000 genomes]
rs73335447	0.82[EUR][1000 genomes]
rs73335461	0.82[EUR][1000 genomes]
rs73335474	0.82[EUR][1000 genomes]
rs73335490	1.00[EUR][1000 genomes]
rs73335494	1.00[EUR][1000 genomes]
rs73335498	1.00[EUR][1000 genomes]
rs73335501	1.00[EUR][1000 genomes]
rs73337225	0.84[EUR][1000 genomes]
rs73337229	1.00[EUR][1000 genomes]
rs73337233	1.00[EUR][1000 genomes]
rs73337299	1.00[EUR][1000 genomes]
rs73783476	0.82[EUR][1000 genomes]
rs73783496	1.00[EUR][1000 genomes]
rs73783501	1.00[EUR][1000 genomes]
rs73783503	1.00[EUR][1000 genomes]
rs73783504	1.00[EUR][1000 genomes]
rs73783506	1.00[EUR][1000 genomes]
rs73783507	1.00[EUR][1000 genomes]
rs73785546	0.82[EUR][1000 genomes]
rs73785547	0.82[EUR][1000 genomes]
rs73786207	1.00[EUR][1000 genomes]
rs73786209	1.00[EUR][1000 genomes]
rs73786212	1.00[EUR][1000 genomes]
rs73786239	1.00[EUR][1000 genomes]
rs73786240	1.00[EUR][1000 genomes]
rs73786241	1.00[EUR][1000 genomes]
rs73786242	1.00[EUR][1000 genomes]
rs73786244	1.00[EUR][1000 genomes]
rs73786246	1.00[EUR][1000 genomes]
rs73786247	1.00[EUR][1000 genomes]
rs73786249	1.00[EUR][1000 genomes]
rs73786250	1.00[EUR][1000 genomes]
rs73786251	1.00[EUR][1000 genomes]
rs73786252	1.00[EUR][1000 genomes]
rs73786253	1.00[EUR][1000 genomes]
rs73786255	1.00[EUR][1000 genomes]
rs73786259	1.00[EUR][1000 genomes]
rs73786260	1.00[EUR][1000 genomes]
rs73786261	1.00[EUR][1000 genomes]
rs73786262	1.00[EUR][1000 genomes]
rs73786264	1.00[EUR][1000 genomes]
rs73786265	1.00[EUR][1000 genomes]
rs73786266	1.00[EUR][1000 genomes]
rs73786267	0.92[EUR][1000 genomes]
rs73786268	1.00[EUR][1000 genomes]
rs73786269	1.00[EUR][1000 genomes]
rs73786270	1.00[EUR][1000 genomes]
rs73786271	1.00[EUR][1000 genomes]
rs73786272	1.00[EUR][1000 genomes]
rs73786276	1.00[EUR][1000 genomes]
rs73786277	1.00[EUR][1000 genomes]
rs73786278	1.00[EUR][1000 genomes]
rs73786280	1.00[EUR][1000 genomes]
rs73786281	1.00[EUR][1000 genomes]
rs73786282	1.00[EUR][1000 genomes]
rs73786283	1.00[EUR][1000 genomes]
rs73786284	1.00[EUR][1000 genomes]
rs73786285	1.00[EUR][1000 genomes]
rs73786287	1.00[EUR][1000 genomes]
rs73786288	1.00[EUR][1000 genomes]
rs73786290	1.00[EUR][1000 genomes]
rs73786294	1.00[EUR][1000 genomes]
rs73786295	1.00[EUR][1000 genomes]
rs73786298	1.00[EUR][1000 genomes]
rs73787403	1.00[EUR][1000 genomes]
rs73787404	1.00[EUR][1000 genomes]
rs73787406	1.00[EUR][1000 genomes]
rs7701976	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs7709865	0.85[JPT][hapmap]
rs7715377	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs7727719	0.82[EUR][1000 genomes]
rs9918233	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126374600-126408400	Weak transcription	Psoas Muscle	Psoas
2	chr5:126377200-126395200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:126377200-126400000	Weak transcription	Gastric	stomach
4	chr5:126377200-126401400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:126377200-126409000	Weak transcription	Spleen	Spleen
6	chr5:126377400-126395800	Weak transcription	Colonic Mucosa	Colon
7	chr5:126377400-126403800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:126377400-126404600	Weak transcription	Left Ventricle	heart
9	chr5:126377400-126408400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:126378000-126408000	Weak transcription	Fetal Intestine Small	intestine
11	chr5:126378000-126408400	Weak transcription	Right Ventricle	heart
12	chr5:126378200-126408200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:126378400-126408000	Weak transcription	HMEC	breast
14	chr5:126379200-126404800	Weak transcription	Brain Germinal Matrix	brain
15	chr5:126379400-126404600	Weak transcription	Fetal Heart	heart
16	chr5:126380400-126408000	Weak transcription	HepG2	liver
17	chr5:126381000-126397800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:126381400-126408400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:126381600-126396600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:126382400-126408600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:126386000-126406400	Weak transcription	Adipose Nuclei	Adipose
22	chr5:126386400-126395400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:126388000-126408000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr5:126388200-126404400	Weak transcription	HSMM	muscle
25	chr5:126388600-126408400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:126388800-126406400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:126389000-126396000	Weak transcription	Osteobl	bone
28	chr5:126389000-126400200	Weak transcription	Brain Substantia Nigra	brain
29	chr5:126389000-126408400	Weak transcription	Thymus	Thymus
30	chr5:126390200-126408400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:126390600-126394000	Weak transcription	Fetal Lung	lung
32	chr5:126391200-126394400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:126391200-126394800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:126391400-126408200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:126391600-126394000	Strong transcription	Primary T cells from cord blood	blood
36	chr5:126391600-126394000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:126391600-126394600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr5:126391600-126394800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr5:126391600-126408200	Weak transcription	A549	lung
40	chr5:126391800-126394000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:126391800-126394200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr5:126391800-126394800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:126392000-126404400	Weak transcription	NH-A	brain
44	chr5:126392000-126408200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:126392000-126408200	Weak transcription	Fetal Kidney	kidney
46	chr5:126392000-126408200	Weak transcription	NHEK	skin
47	chr5:126392000-126408400	Weak transcription	Fetal Brain Female	brain
48	chr5:126392000-126408400	Weak transcription	HSMMtube	muscle
49	chr5:126392200-126408400	Weak transcription	Fetal Stomach	stomach
50	chr5:126392200-126408600	Weak transcription	Lung	lung

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