Variant report

Variant	rs10493322
Chromosome Location	chr1:62905893-62905894
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	chr1:62903526..62905902-chr1:62994645..62996175,2	K562	blood:

Extended variants
information (count: 205 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:203)

rs_ID	r²[population]
rs1002687	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs1007205	0.96[CEU][hapmap]
rs10157265	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs10158897	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10159255	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10789112	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10789113	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10789117	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs10789118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10789119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10789120	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10889330	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10889331	0.94[EUR][1000 genomes]
rs10889332	0.95[CEU][hapmap];0.99[EUR][1000 genomes]
rs10889333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10889334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889335	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10889337	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs10889338	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889339	0.98[EUR][1000 genomes]
rs10889340	0.98[EUR][1000 genomes]
rs10889342	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10889343	0.90[EUR][1000 genomes]
rs10889344	0.90[EUR][1000 genomes]
rs10889347	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs10889348	0.86[EUR][1000 genomes]
rs10889349	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs10889350	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs10889352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10889353	0.86[EUR][1000 genomes]
rs10889354	0.86[EUR][1000 genomes]
rs11207969	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11207970	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11207972	0.93[EUR][1000 genomes]
rs11207974	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs11207976	0.98[EUR][1000 genomes]
rs11207977	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11207979	0.98[EUR][1000 genomes]
rs11207980	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207981	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs11207982	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207983	0.98[EUR][1000 genomes]
rs11207984	0.98[EUR][1000 genomes]
rs11207985	0.98[EUR][1000 genomes]
rs11207986	0.98[EUR][1000 genomes]
rs11207990	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs11207992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11207995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11207996	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11207997	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs11207998	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11207999	0.87[EUR][1000 genomes]
rs11208000	0.88[EUR][1000 genomes]
rs11208001	0.85[EUR][1000 genomes]
rs11208004	0.81[EUR][1000 genomes]
rs11485618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11577840	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs11588261	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1167996	0.99[EUR][1000 genomes]
rs1167998	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs1168001	0.94[EUR][1000 genomes]
rs1168002	0.94[EUR][1000 genomes]
rs1168003	0.94[EUR][1000 genomes]
rs1168009	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs1168010	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs1168013	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs1168015	0.96[EUR][1000 genomes]
rs1168017	0.98[EUR][1000 genomes]
rs1168018	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs1168020	0.98[EUR][1000 genomes]
rs1168021	0.98[EUR][1000 genomes]
rs1168022	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs1168023	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs1168026	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs1168027	0.98[EUR][1000 genomes]
rs1168028	0.92[EUR][1000 genomes]
rs1168029	0.92[EUR][1000 genomes]
rs1168030	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs1168031	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs1168032	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs1168034	0.92[EUR][1000 genomes]
rs1168036	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1168040	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs1168042	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs1168044	0.98[EUR][1000 genomes]
rs1168045	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs1168046	0.98[EUR][1000 genomes]
rs1168047	0.98[EUR][1000 genomes]
rs1168050	0.98[EUR][1000 genomes]
rs1168085	0.86[EUR][1000 genomes]
rs1168086	0.86[EUR][1000 genomes]
rs1168089	0.86[EUR][1000 genomes]
rs1168093	0.85[EUR][1000 genomes]
rs1168097	0.86[EUR][1000 genomes]
rs1168098	0.86[EUR][1000 genomes]
rs1168099	0.86[EUR][1000 genomes]
rs1168102	0.86[EUR][1000 genomes]
rs1168103	0.86[EUR][1000 genomes]
rs1168124	0.85[EUR][1000 genomes]
rs1168132	0.82[EUR][1000 genomes]
rs1177541	0.91[EUR][1000 genomes]
rs1179765	0.98[EUR][1000 genomes]
rs1183260	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs1184547	0.98[EUR][1000 genomes]
rs1184865	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs12023489	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12025800	0.88[EUR][1000 genomes]
rs12029068	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12037659	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12038768	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12039115	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12042319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12043877	0.82[ASN][1000 genomes]
rs12047226	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12048208	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12062275	0.98[EUR][1000 genomes]
rs12074528	0.98[EUR][1000 genomes]
rs12090886	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12116574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12124284	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12239736	0.84[EUR][1000 genomes]
rs12239737	0.82[EUR][1000 genomes]
rs12403207	0.98[EUR][1000 genomes]
rs1305520	0.94[EUR][1000 genomes]
rs1305521	0.99[EUR][1000 genomes]
rs1472257	0.90[EUR][1000 genomes]
rs1570694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1627591	0.96[CEU][hapmap];0.98[EUR][1000 genomes]
rs1629122	0.89[EUR][1000 genomes]
rs1690755	0.92[EUR][1000 genomes]
rs1690761	0.99[EUR][1000 genomes]
rs1690766	0.96[EUR][1000 genomes]
rs1748195	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs1748197	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[EUR][1000 genomes]
rs1748199	0.95[CEU][hapmap];0.86[CHB][hapmap];0.88[EUR][1000 genomes]
rs1748200	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs1748201	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs1781195	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs1781212	0.96[CEU][hapmap];0.98[EUR][1000 genomes]
rs1781221	0.96[CEU][hapmap]
rs1979722	0.95[CEU][hapmap];0.80[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2029763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2131925	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2131926	0.90[EUR][1000 genomes]
rs2366636	0.88[EUR][1000 genomes]
rs2366638	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs2479464	0.86[EUR][1000 genomes]
rs2489835	0.95[EUR][1000 genomes]
rs34152715	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3850634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3913007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4329540	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs4350231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4495740	0.86[EUR][1000 genomes]
rs4587594	0.86[EUR][1000 genomes]
rs4915838	0.93[EUR][1000 genomes]
rs4915840	0.98[EUR][1000 genomes]
rs583609	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs597076	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs597078	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs597470	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs598253	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61471917	0.88[EUR][1000 genomes]
rs61775910	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs624660	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs626787	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs630144	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs631106	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs634341	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs636497	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs636523	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs637723	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs638305	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs641540	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs642845	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs656297	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6587976	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6587980	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs659656	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6675401	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs6678483	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs6690733	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs6693353	0.86[EUR][1000 genomes]
rs6696502	0.90[EUR][1000 genomes]
rs746735	0.86[EUR][1000 genomes]
rs7519785	0.89[EUR][1000 genomes]
rs7520810	0.88[EUR][1000 genomes]
rs7527004	0.90[EUR][1000 genomes]
rs7531579	0.81[EUR][1000 genomes]
rs7534572	0.98[EUR][1000 genomes]
rs7539035	0.88[EUR][1000 genomes]
rs7547965	0.91[EUR][1000 genomes]
rs7548877	0.98[EUR][1000 genomes]
rs7555577	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs783291	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9436221	0.92[EUR][1000 genomes]
rs9436222	0.92[EUR][1000 genomes]
rs9436223	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9436661	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs993013	0.87[EUR][1000 genomes]
rs995000	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs998403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9988450	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]

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	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
2	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10493322	DOCK7	cis	lesional skin	skin_eQTL
rs10493322	DOCK7	cis	uninvolved skin	skin_eQTL
rs10493322	DOCK7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62901000-62906200	Active TSS	GM12878-XiMat	blood
2	chr1:62901400-62906000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:62903600-62914600	Weak transcription	Spleen	Spleen
4	chr1:62903800-62906400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr1:62904000-62915200	Weak transcription	Lung	lung
6	chr1:62904200-62906000	Active TSS	HepG2	liver
7	chr1:62904200-62906200	Weak transcription	Ovary	ovary
8	chr1:62904200-62906200	Weak transcription	Small Intestine	intestine
9	chr1:62904200-62906400	Weak transcription	Placenta	Placenta
10	chr1:62904200-62906600	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:62904200-62907400	Weak transcription	Left Ventricle	heart
12	chr1:62904200-62908400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:62904200-62909600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:62904200-62909600	Weak transcription	Aorta	Aorta
15	chr1:62904200-62909600	Weak transcription	Esophagus	oesophagus
16	chr1:62904200-62911000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:62904200-62911400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:62904200-62911400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:62904200-62913000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:62904200-62914200	Weak transcription	Colonic Mucosa	Colon
21	chr1:62904200-62914600	Weak transcription	Gastric	stomach
22	chr1:62904200-62915400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:62904200-62917800	Weak transcription	Pancreas	Pancrea
24	chr1:62904200-62931400	Weak transcription	HSMMtube	muscle
25	chr1:62904200-62940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:62904400-62906600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr1:62904400-62907000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:62904400-62907000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:62904400-62907200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:62904400-62907200	Weak transcription	Brain Anterior Caudate	brain
31	chr1:62904400-62907400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:62904400-62907400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:62904400-62907600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:62904400-62914600	Weak transcription	Psoas Muscle	Psoas
35	chr1:62904600-62906400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:62904600-62907200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:62904600-62908400	Weak transcription	Right Ventricle	heart
38	chr1:62904600-62911800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:62904600-62913000	Weak transcription	Brain Substantia Nigra	brain
40	chr1:62904600-62916400	Weak transcription	Stomach Mucosa	stomach
41	chr1:62904800-62906000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:62904800-62906000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:62904800-62906000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr1:62904800-62906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:62904800-62906200	Weak transcription	Fetal Intestine Large	intestine
46	chr1:62904800-62906400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr1:62904800-62906400	Enhancers	Liver	Liver
48	chr1:62904800-62906400	Enhancers	Fetal Kidney	kidney
49	chr1:62904800-62906400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr1:62904800-62906800	Enhancers	Primary T cells from cord blood	blood

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