Variant report

Variant	rs12239737
Chromosome Location	chr1:63086001-63086002
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 175 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:171)

rs_ID	r²[population]
rs10157265	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10158897	0.82[EUR][1000 genomes]
rs10159255	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10493322	0.82[EUR][1000 genomes]
rs10789112	0.82[EUR][1000 genomes]
rs10789113	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10789117	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10789118	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10789119	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10789120	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10889332	0.81[EUR][1000 genomes]
rs10889333	0.81[EUR][1000 genomes]
rs10889334	0.82[EUR][1000 genomes]
rs10889338	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10889339	0.82[EUR][1000 genomes]
rs10889340	0.82[EUR][1000 genomes]
rs10889343	0.90[EUR][1000 genomes]
rs10889344	0.90[EUR][1000 genomes]
rs10889347	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10889348	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10889349	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10889350	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10889352	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10889353	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10889354	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10889356	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10889357	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10889360	0.82[AMR][1000 genomes]
rs11207969	0.81[EUR][1000 genomes]
rs11207970	0.82[EUR][1000 genomes]
rs11207974	0.81[EUR][1000 genomes]
rs11207976	0.82[EUR][1000 genomes]
rs11207977	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11207979	0.82[EUR][1000 genomes]
rs11207980	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11207981	0.82[EUR][1000 genomes]
rs11207982	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11207983	0.82[EUR][1000 genomes]
rs11207984	0.82[EUR][1000 genomes]
rs11207985	0.82[EUR][1000 genomes]
rs11207986	0.82[EUR][1000 genomes]
rs11207990	0.90[EUR][1000 genomes]
rs11207992	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11207994	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11207995	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11207996	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11207997	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11207999	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11208000	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11208001	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11208004	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11208007	0.84[AMR][1000 genomes]
rs11485618	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11577840	0.81[EUR][1000 genomes]
rs1167996	0.81[EUR][1000 genomes]
rs1168013	0.82[EUR][1000 genomes]
rs1168015	0.81[EUR][1000 genomes]
rs1168017	0.82[EUR][1000 genomes]
rs1168018	0.82[EUR][1000 genomes]
rs1168020	0.82[EUR][1000 genomes]
rs1168021	0.82[EUR][1000 genomes]
rs1168022	0.80[EUR][1000 genomes]
rs1168023	0.81[EUR][1000 genomes]
rs1168027	0.82[EUR][1000 genomes]
rs1168036	0.82[EUR][1000 genomes]
rs1168042	0.81[EUR][1000 genomes]
rs1168044	0.82[EUR][1000 genomes]
rs1168045	0.82[EUR][1000 genomes]
rs1168046	0.82[EUR][1000 genomes]
rs1168047	0.82[EUR][1000 genomes]
rs1168050	0.82[EUR][1000 genomes]
rs1168085	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1168086	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1168089	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1168093	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1168097	0.90[EUR][1000 genomes]
rs1168098	0.90[EUR][1000 genomes]
rs1168099	0.90[EUR][1000 genomes]
rs1168102	0.90[EUR][1000 genomes]
rs1168103	0.90[EUR][1000 genomes]
rs1168124	0.89[EUR][1000 genomes]
rs1168128	0.82[EUR][1000 genomes]
rs1168132	0.88[EUR][1000 genomes]
rs1179765	0.82[EUR][1000 genomes]
rs1183260	0.81[EUR][1000 genomes]
rs1184547	0.82[EUR][1000 genomes]
rs12023489	0.80[EUR][1000 genomes]
rs12025800	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12029068	0.81[EUR][1000 genomes]
rs12037659	0.81[EUR][1000 genomes]
rs12038768	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12042319	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12047226	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12062275	0.82[EUR][1000 genomes]
rs12074528	0.82[EUR][1000 genomes]
rs12116574	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12136083	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12239736	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12403207	0.82[EUR][1000 genomes]
rs1305521	0.81[EUR][1000 genomes]
rs1472257	0.90[EUR][1000 genomes]
rs1570694	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1627591	0.82[EUR][1000 genomes]
rs1629122	0.91[EUR][1000 genomes]
rs1690761	0.81[EUR][1000 genomes]
rs1690766	0.82[EUR][1000 genomes]
rs1748195	0.91[EUR][1000 genomes]
rs1748197	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1748199	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1748200	0.91[EUR][1000 genomes]
rs1748201	0.91[EUR][1000 genomes]
rs1781195	0.82[EUR][1000 genomes]
rs1781212	0.82[EUR][1000 genomes]
rs1979722	0.81[EUR][1000 genomes]
rs2029763	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2131925	0.90[EUR][1000 genomes]
rs2131926	0.90[EUR][1000 genomes]
rs2366636	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2366638	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2479464	0.89[EUR][1000 genomes]
rs28399032	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34152715	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3850634	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3913007	0.82[EUR][1000 genomes]
rs4329540	0.90[EUR][1000 genomes]
rs4344355	0.86[AMR][1000 genomes]
rs4459145	0.81[EUR][1000 genomes]
rs4495740	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4587594	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4915840	0.82[EUR][1000 genomes]
rs583609	0.81[EUR][1000 genomes]
rs597076	0.81[EUR][1000 genomes]
rs597078	0.81[EUR][1000 genomes]
rs597470	0.81[EUR][1000 genomes]
rs598253	0.81[EUR][1000 genomes]
rs61471917	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs624660	0.81[EUR][1000 genomes]
rs626787	0.81[EUR][1000 genomes]
rs631106	0.81[EUR][1000 genomes]
rs634341	0.81[EUR][1000 genomes]
rs636497	0.81[EUR][1000 genomes]
rs636523	0.82[EUR][1000 genomes]
rs637723	0.81[EUR][1000 genomes]
rs638305	0.81[EUR][1000 genomes]
rs641540	0.81[EUR][1000 genomes]
rs642845	0.81[EUR][1000 genomes]
rs656297	0.81[EUR][1000 genomes]
rs6587976	0.81[EUR][1000 genomes]
rs6587980	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs659656	0.81[EUR][1000 genomes]
rs6657050	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6675401	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6678483	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6690733	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6693353	0.87[EUR][1000 genomes]
rs6696502	0.90[EUR][1000 genomes]
rs746735	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7518497	0.84[AMR][1000 genomes]
rs7519785	0.89[EUR][1000 genomes]
rs7520810	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7531579	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7534572	0.82[EUR][1000 genomes]
rs7539035	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7548877	0.82[EUR][1000 genomes]
rs7555577	0.83[EUR][1000 genomes]
rs783291	0.81[EUR][1000 genomes]
rs9436223	0.81[EUR][1000 genomes]
rs9436661	0.81[EUR][1000 genomes]
rs993013	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs995000	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs998403	0.82[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	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
2	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv870559	chr1:63057136-63113719	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1000988	chr1:63061791-63107526	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12239737	DOCK7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63007200-63096200	Weak transcription	HUVEC	blood vessel
2	chr1:63036800-63113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:63038400-63087600	Weak transcription	NHEK	skin
4	chr1:63038400-63095600	Weak transcription	Brain Germinal Matrix	brain
5	chr1:63039200-63095200	Weak transcription	Ovary	ovary
6	chr1:63041000-63095200	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:63041000-63095600	Weak transcription	Fetal Stomach	stomach
8	chr1:63051800-63096000	Weak transcription	Left Ventricle	heart
9	chr1:63054800-63087600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:63065400-63087800	Weak transcription	Stomach Mucosa	stomach
11	chr1:63066800-63112200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:63068400-63095200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:63072000-63089400	Weak transcription	Fetal Kidney	kidney
14	chr1:63072000-63095800	Weak transcription	Primary T cells from cord blood	blood
15	chr1:63074400-63095600	Weak transcription	Fetal Intestine Small	intestine
16	chr1:63074400-63099000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:63075200-63095200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:63075400-63095600	Weak transcription	Fetal Brain Female	brain
19	chr1:63075400-63095600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:63075600-63087600	Weak transcription	HSMMtube	muscle
21	chr1:63075600-63095600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:63075600-63106600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:63075800-63095800	Weak transcription	Aorta	Aorta
24	chr1:63075800-63099000	Weak transcription	Fetal Brain Male	brain
25	chr1:63076400-63097000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:63077200-63087600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:63077400-63095200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:63078600-63087600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:63079000-63087600	Weak transcription	HMEC	breast
30	chr1:63079200-63098800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:63079200-63099000	Weak transcription	Brain Angular Gyrus	brain
32	chr1:63079600-63091200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:63079600-63095800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:63079600-63095800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:63079800-63108800	Weak transcription	Primary B cells from cord blood	blood
36	chr1:63080000-63095800	Weak transcription	NH-A	brain
37	chr1:63080400-63087400	Weak transcription	Osteobl	bone
38	chr1:63081400-63086600	Weak transcription	A549	lung
39	chr1:63082200-63087600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:63082200-63099200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:63082200-63121000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:63082400-63098800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:63082800-63132600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:63083000-63086600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:63083000-63095600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:63083000-63096000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:63083200-63095600	Weak transcription	Esophagus	oesophagus
48	chr1:63083400-63095600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:63083400-63119000	Weak transcription	Fetal Thymus	thymus
50	chr1:63083600-63087600	Weak transcription	K562	blood

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