Variant report

Variant	rs1168041
Chromosome Location	chr1:62960250-62960251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62956362..62957936-chr1:62958074..62960377,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1002687	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10158897	0.82[CHD][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap]
rs10159255	0.82[CHD][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes]
rs10789112	0.84[AMR][1000 genomes]
rs10789113	0.83[AMR][1000 genomes]
rs10789117	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs10789119	0.82[CHD][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap]
rs10889330	0.82[EUR][1000 genomes]
rs10889331	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10889332	0.85[MEX][hapmap];0.85[TSI][hapmap]
rs10889333	0.82[CHD][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes]
rs10889334	0.84[AMR][1000 genomes]
rs10889335	0.89[CHD][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10889337	0.90[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10889338	0.82[AMR][1000 genomes]
rs10889339	0.82[AMR][1000 genomes]
rs10889340	0.82[AMR][1000 genomes]
rs10889347	0.86[MEX][hapmap];0.92[TSI][hapmap]
rs10889353	0.82[CHD][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap]
rs11207969	0.86[MEX][hapmap];0.85[TSI][hapmap]
rs11207972	0.82[EUR][1000 genomes]
rs11207976	0.81[AMR][1000 genomes]
rs11207977	0.83[AMR][1000 genomes]
rs11207979	0.83[AMR][1000 genomes]
rs11207980	0.82[AMR][1000 genomes]
rs11207981	0.83[AMR][1000 genomes]
rs11207982	0.83[AMR][1000 genomes]
rs11207983	0.82[AMR][1000 genomes]
rs11207984	0.83[AMR][1000 genomes]
rs11207985	0.83[AMR][1000 genomes]
rs11207986	0.83[AMR][1000 genomes]
rs11207995	0.82[CHD][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap]
rs11207997	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs11208000	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs11208004	0.82[CHD][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap]
rs11577840	0.86[AMR][1000 genomes]
rs1167998	0.86[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1168001	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1168002	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1168003	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1168009	0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1168010	0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1168013	0.90[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes]
rs1168015	0.83[AMR][1000 genomes]
rs1168017	0.83[AMR][1000 genomes]
rs1168018	0.82[CEU][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes]
rs1168020	0.83[AMR][1000 genomes]
rs1168021	0.83[AMR][1000 genomes]
rs1168022	0.81[CEU][hapmap];0.81[AMR][1000 genomes]
rs1168023	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs1168026	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1168027	0.86[AMR][1000 genomes]
rs1168028	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1168029	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1168030	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1168031	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1168032	0.90[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1168034	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1168036	0.86[AMR][1000 genomes]
rs1168040	0.82[CEU][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes]
rs1168042	0.86[AMR][1000 genomes]
rs1168044	0.86[AMR][1000 genomes]
rs1168045	0.92[TSI][hapmap];0.86[AMR][1000 genomes]
rs1168046	0.86[AMR][1000 genomes]
rs1168047	0.86[AMR][1000 genomes]
rs1168050	0.86[AMR][1000 genomes]
rs1168086	1.00[JPT][hapmap]
rs1168089	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs1168099	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs1168113	0.83[TSI][hapmap]
rs1168114	0.82[CHD][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs1177541	0.81[AMR][1000 genomes]
rs1179765	0.83[AMR][1000 genomes]
rs1183260	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs1184547	0.83[AMR][1000 genomes]
rs1184865	0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12039115	0.89[JPT][hapmap]
rs12062275	0.86[AMR][1000 genomes]
rs12074528	0.83[AMR][1000 genomes]
rs12090886	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12116574	0.82[CHD][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap]
rs12124284	0.81[AMR][1000 genomes]
rs12403207	0.83[AMR][1000 genomes]
rs1305520	0.82[EUR][1000 genomes]
rs1305521	0.84[AMR][1000 genomes]
rs1570694	0.82[CHD][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap]
rs1627591	0.86[AMR][1000 genomes]
rs1690755	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1690761	0.84[AMR][1000 genomes]
rs1690766	0.86[AMR][1000 genomes]
rs1748195	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs1748197	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs1748199	0.86[CHB][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.80[ASN][1000 genomes]
rs1748201	0.82[CEU][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap]
rs1781195	0.90[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes]
rs1781212	0.86[AMR][1000 genomes]
rs1979722	0.82[CHD][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs2366636	0.80[ASN][1000 genomes]
rs2489835	0.80[AMR][1000 genomes]
rs3850634	0.82[CHD][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap]
rs3913007	0.82[CHD][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs4329540	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs4350231	0.82[CHD][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs4587594	0.82[CHD][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap]
rs4915838	0.81[AMR][1000 genomes]
rs4915840	0.82[AMR][1000 genomes]
rs583609	0.86[MEX][hapmap];0.85[TSI][hapmap]
rs626787	0.82[TSI][hapmap]
rs631106	0.82[CEU][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap]
rs634341	0.81[CEU][hapmap]
rs637723	0.83[CEU][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap]
rs656297	0.86[MEX][hapmap];0.85[TSI][hapmap]
rs6587980	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs6675401	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs6678483	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs6690733	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs7527004	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7534572	0.82[AMR][1000 genomes]
rs7539035	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs7548877	0.83[AMR][1000 genomes]
rs995000	0.82[CHD][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap]
rs998403	0.82[AMR][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	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	esv1829390	chr1:62931632-62997573	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1168041	DOCK7	cis	lymphoblastoid	seeQTL
rs1168041	RAB11FIP2	trans	parietal	SCAN
rs1168041	DOCK7	Cis_1M	lymphoblastoid	RTeQTL
rs1168041	DOCK7	cis	lesional skin	skin_eQTL
rs1168041	DOCK7	cis	uninvolved skin	skin_eQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62909800-62977000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:62915400-62966600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:62916000-62977200	Weak transcription	Right Ventricle	heart
4	chr1:62916200-62963200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:62916600-62976600	Weak transcription	Psoas Muscle	Psoas
6	chr1:62920000-62971000	Weak transcription	Thymus	Thymus
7	chr1:62920000-62980200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:62922600-62982000	Weak transcription	A549	lung
9	chr1:62923200-62979200	Weak transcription	Fetal Thymus	thymus
10	chr1:62934400-62981200	Weak transcription	Stomach Mucosa	stomach
11	chr1:62938000-62966600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:62938800-62973800	Weak transcription	Esophagus	oesophagus
13	chr1:62939200-62978200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:62939600-62999800	Weak transcription	Gastric	stomach
15	chr1:62939600-63040600	Weak transcription	Aorta	Aorta
16	chr1:62939800-62961600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
19	chr1:62941000-63001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:62941600-62975400	Weak transcription	NHLF	lung
21	chr1:62941600-62978600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:62941600-62981400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:62941600-62998200	Weak transcription	Fetal Heart	heart
24	chr1:62941600-63011800	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:62941800-62972600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:62941800-62978400	Weak transcription	NHEK	skin
27	chr1:62941800-62982000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:62941800-62984600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:62941800-63030200	Weak transcription	Brain Angular Gyrus	brain
30	chr1:62943600-62979400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:62945400-62962800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:62947200-62970000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:62947200-62978600	Weak transcription	Ovary	ovary
34	chr1:62947400-62970000	Weak transcription	Brain Anterior Caudate	brain
35	chr1:62949200-62962200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:62950200-62962200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:62951200-62980400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:62952000-62963000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:62952400-62962200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:62952400-62962200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:62953400-62961800	Strong transcription	Adipose Nuclei	Adipose
42	chr1:62953400-62962600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:62953600-62960800	Strong transcription	Liver	Liver
44	chr1:62953800-62962200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr1:62954000-63003400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
47	chr1:62954400-62962000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr1:62955600-62961800	Strong transcription	HepG2	liver
49	chr1:62955800-62962000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:62956200-62962200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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