Variant report

Variant	rs10447522
Chromosome Location	chr7:65796074-65796075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65670276..65672118-chr7:65795106..65797667,2	K562	blood:

Variant related genes	Relation type
ENSG00000169902	Chromatin interaction

Extended variants
information (count: 161 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs1000464	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1002053	0.85[CEU][hapmap]
rs10215948	0.89[CEU][hapmap]
rs10224872	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10228885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240949	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10250544	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255397	0.90[EUR][1000 genomes]
rs10256544	1.00[CEU][hapmap];0.89[YRI][hapmap];0.92[EUR][1000 genomes]
rs10257427	0.89[CEU][hapmap]
rs10257911	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10260426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261398	1.00[CEU][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10263690	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10267430	0.89[CEU][hapmap]
rs10272149	0.81[EUR][1000 genomes]
rs10276077	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10282433	1.00[CEU][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10807704	0.81[EUR][1000 genomes]
rs1083554	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10950029	0.82[YRI][hapmap]
rs10950033	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1129531	0.90[YRI][hapmap]
rs11760844	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11764589	0.82[EUR][1000 genomes]
rs11765791	0.85[EUR][1000 genomes]
rs11765965	0.83[CEU][hapmap]
rs11769079	0.93[YRI][hapmap];0.90[EUR][1000 genomes]
rs11984115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12531677	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532998	0.89[CEU][hapmap]
rs12534500	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12537823	1.00[CEU][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12668005	0.83[EUR][1000 genomes]
rs12698520	0.88[CEU][hapmap]
rs12698522	0.82[EUR][1000 genomes]
rs12698526	0.82[EUR][1000 genomes]
rs13225672	0.83[EUR][1000 genomes]
rs13230545	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13309935	0.91[EUR][1000 genomes]
rs1532571	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1547529	0.82[YRI][hapmap]
rs1643375	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1695820	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17138149	0.82[YRI][hapmap]
rs1875057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1909508	0.82[YRI][hapmap]
rs1968225	0.89[CEU][hapmap]
rs1983372	1.00[CEU][hapmap]
rs2036263	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2036264	0.89[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs2077593	0.89[CEU][hapmap]
rs2088653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2088655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173570	0.89[CEU][hapmap];0.90[YRI][hapmap]
rs2420173	0.83[EUR][1000 genomes]
rs2420174	0.83[EUR][1000 genomes]
rs28391294	0.81[EUR][1000 genomes]
rs28491091	0.96[EUR][1000 genomes]
rs28714531	0.82[EUR][1000 genomes]
rs2901152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2901155	0.81[EUR][1000 genomes]
rs2909688	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs316328	0.82[YRI][hapmap]
rs34913718	0.92[EUR][1000 genomes]
rs3735148	0.89[CEU][hapmap]
rs3857685	0.85[EUR][1000 genomes]
rs3893216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4078376	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4149461	1.00[CEU][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4236208	1.00[CEU][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4587224	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4623294	0.82[EUR][1000 genomes]
rs4718319	0.82[EUR][1000 genomes]
rs4718324	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4718328	0.93[EUR][1000 genomes]
rs4718329	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4718330	1.00[CEU][hapmap];0.89[YRI][hapmap];0.95[EUR][1000 genomes]
rs6460278	0.96[EUR][1000 genomes]
rs6460279	0.96[EUR][1000 genomes]
rs6460282	1.00[CEU][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6460284	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6460287	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460290	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6460292	0.89[CEU][hapmap]
rs6460293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460296	0.89[CEU][hapmap]
rs6460302	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6460303	0.82[EUR][1000 genomes]
rs6460304	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6944374	0.96[CEU][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6945019	0.89[CEU][hapmap]
rs6945032	0.89[CEU][hapmap]
rs6945843	0.92[CEU][hapmap]
rs6947339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6950137	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs6951503	0.96[CEU][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6952182	1.00[CEU][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6952473	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6956179	0.89[CEU][hapmap]
rs6958294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958484	0.88[CEU][hapmap]
rs6959268	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6960446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6962717	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs6963228	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6963646	0.89[CEU][hapmap]
rs6964437	1.00[CEU][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6967708	0.83[EUR][1000 genomes]
rs6971509	0.89[CEU][hapmap];0.89[YRI][hapmap]
rs6971752	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6974614	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6976714	0.94[YRI][hapmap];0.84[EUR][1000 genomes]
rs6978028	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6979452	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs709595	0.89[CEU][hapmap]
rs709596	0.93[EUR][1000 genomes]
rs71526537	0.81[EUR][1000 genomes]
rs7778322	0.81[EUR][1000 genomes]
rs7781880	0.86[EUR][1000 genomes]
rs7782704	1.00[CEU][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7782806	0.83[EUR][1000 genomes]
rs7783613	0.89[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs7783779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs778680	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs778684	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs778686	0.93[EUR][1000 genomes]
rs778690	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778697	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778702	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs778703	0.83[EUR][1000 genomes]
rs778705	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs778706	0.89[CEU][hapmap]
rs778707	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs778711	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs778715	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs778716	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs778719	0.81[EUR][1000 genomes]
rs778720	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs778722	0.92[CEU][hapmap]
rs778724	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs778728	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs778734	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs778736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787482	0.84[EUR][1000 genomes]
rs7789615	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7789768	0.89[CEU][hapmap]
rs7794930	0.89[CEU][hapmap];0.89[YRI][hapmap]
rs7796162	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7798630	1.00[CEU][hapmap];0.96[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7801282	0.89[CEU][hapmap]
rs809025	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs875971	0.89[CEU][hapmap]
rs880166	1.00[CEU][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes]
rs908915	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs937495	0.89[CEU][hapmap];0.89[YRI][hapmap]
rs949930	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv508458	chr7:65724222-65842639	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1034195	chr7:65743409-65828266	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs10447522	RP4-756H11.3	cis	Thyroid	GTEx
rs10447522	GS1-124K5.4	cis	Skin Sun Exposed Lower leg	GTEx
rs10447522	GS1-124K5.11	cis	Thyroid	GTEx
rs10447522	GS1-124K5.4	cis	Artery Aorta	GTEx
rs10447522	GTF2IRD1P1	cis	Thyroid	GTEx
rs10447522	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs10447522	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs10447522	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs10447522	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs10447522	RP4-756H11.3	cis	lung	GTEx
rs10447522	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs10447522	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs10447522	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs10447522	RP4-756H11.3	cis	Artery Tibial	GTEx
rs10447522	LINC00174	cis	Thyroid	GTEx
rs10447522	GS1-124K5.4	cis	Stomach	GTEx
rs10447522	RNU6-96P	cis	Thyroid	GTEx
rs10447522	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs10447522	GS1-124K5.2	cis	Whole Blood	GTEx
rs10447522	RP4-756H11.3	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65786600-65797400	Weak transcription	HMEC	breast
2	chr7:65791800-65797600	Weak transcription	Liver	Liver
3	chr7:65791800-65797800	Weak transcription	HepG2	liver
4	chr7:65791800-65799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:65791800-65800400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:65792200-65797200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:65792600-65799800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:65793000-65800200	Weak transcription	HSMM	muscle
9	chr7:65795000-65796200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:65795200-65796600	Enhancers	Fetal Heart	heart
11	chr7:65795200-65797000	Enhancers	NHDF-Ad	bronchial
12	chr7:65795200-65797800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:65795200-65798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:65795600-65796200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:65795600-65796400	Enhancers	Fetal Muscle Leg	muscle
16	chr7:65795600-65796400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr7:65795600-65797000	Enhancers	Rectal Smooth Muscle	rectum
18	chr7:65795600-65797000	Enhancers	Osteobl	bone
19	chr7:65795600-65797200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:65795600-65797200	Enhancers	Colon Smooth Muscle	Colon
21	chr7:65795600-65797400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:65795800-65796400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:65795800-65796400	Enhancers	Brain Substantia Nigra	brain
24	chr7:65795800-65796400	Enhancers	Fetal Stomach	stomach
25	chr7:65795800-65796400	Enhancers	HSMMtube	muscle
26	chr7:65795800-65796600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:65795800-65796800	Enhancers	NHLF	lung
28	chr7:65795800-65797000	Enhancers	Ovary	ovary
29	chr7:65795800-65799200	Enhancers	Fetal Lung	lung
30	chr7:65796000-65796200	Enhancers	Left Ventricle	heart
31	chr7:65796000-65796200	Enhancers	Pancreas	Pancrea
32	chr7:65796000-65796200	Enhancers	Right Atrium	heart
33	chr7:65796000-65796400	Enhancers	Brain Cingulate Gyrus	brain
34	chr7:65796000-65796800	Enhancers	Muscle Satellite Cultured Cells	--

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