Variant report

Variant	rs1007205
Chromosome Location	chr1:62936912-62936913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1002687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs10157265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs10158897	0.91[CEU][hapmap]
rs10159255	0.91[CEU][hapmap]
rs10493322	0.96[CEU][hapmap]
rs10789117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10789118	0.96[CEU][hapmap]
rs10789119	0.95[CEU][hapmap]
rs10889330	0.82[AMR][1000 genomes]
rs10889331	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10889332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10889333	0.95[CEU][hapmap]
rs10889334	0.96[CEU][hapmap]
rs10889335	0.91[CEU][hapmap]
rs10889337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10889347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs10889349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs10889350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs10889352	0.95[CEU][hapmap]
rs10889353	0.95[CEU][hapmap]
rs11207969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11207972	0.81[AFR][1000 genomes]
rs11207974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11207981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs11207990	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs11207992	0.96[CEU][hapmap]
rs11207995	0.95[CEU][hapmap]
rs11207997	0.87[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap]
rs11208000	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11485618	0.96[CEU][hapmap]
rs11577840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1167996	0.84[AMR][1000 genomes]
rs1167998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1168001	0.86[AMR][1000 genomes]
rs1168002	0.87[AMR][1000 genomes]
rs1168003	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1168009	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1168010	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1168013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs1168018	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1168022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1168023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs1168026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1168030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs1168031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1168032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs1168036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1168040	0.95[CEU][hapmap];0.94[CHB][hapmap];0.81[YRI][hapmap]
rs1168042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1168045	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs1168085	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1168086	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1168089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1168099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs1168132	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap]
rs1177541	0.87[AMR][1000 genomes]
rs1183260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1184865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs12029068	0.81[AMR][1000 genomes]
rs12039115	0.89[JPT][hapmap]
rs12042319	0.96[CEU][hapmap]
rs12090886	1.00[CEU][hapmap]
rs12116574	0.95[CEU][hapmap]
rs12403207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1305520	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1305521	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1570694	0.95[CEU][hapmap]
rs1627591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1690761	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1748195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs1748197	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1748199	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs1748200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1748201	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap]
rs1781195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs1781212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs1781221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1979722	0.91[CEU][hapmap]
rs2029763	0.95[CEU][hapmap]
rs2131925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2366638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2489835	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3850634	0.95[CEU][hapmap]
rs3913007	0.95[CEU][hapmap]
rs4329540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs4350231	0.95[CEU][hapmap]
rs4587594	0.95[CEU][hapmap]
rs583609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs597076	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs597078	0.81[AMR][1000 genomes]
rs598253	0.81[AMR][1000 genomes]
rs624660	0.81[AMR][1000 genomes]
rs626787	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs630144	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs631106	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs634341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs636497	0.81[AFR][1000 genomes]
rs637723	0.96[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs638305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes]
rs641540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes]
rs642845	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes]
rs656297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs6587976	0.82[AMR][1000 genomes]
rs6587980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs659656	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes]
rs6675401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6678483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6690733	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs7539035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs7555577	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs783291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes]
rs995000	0.95[CEU][hapmap]
rs998403	0.96[CEU][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1007205	DOCK7	Cis_1M	lymphoblastoid	RTeQTL
rs1007205	DOCK7	cis	uninvolved skin	skin_eQTL
rs1007205	DOCK7	cis	lesional skin	skin_eQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62904200-62940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:62909800-62977000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:62911600-62938000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:62915400-62940800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:62915400-62966600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:62915800-62937000	Weak transcription	Esophagus	oesophagus
7	chr1:62916000-62940800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:62916000-62977200	Weak transcription	Right Ventricle	heart
9	chr1:62916200-62960000	Weak transcription	Spleen	Spleen
10	chr1:62916200-62963200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:62916400-62940800	Weak transcription	Fetal Heart	heart
12	chr1:62916400-62941400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:62916600-62937000	Weak transcription	Colonic Mucosa	Colon
14	chr1:62916600-62976600	Weak transcription	Psoas Muscle	Psoas
15	chr1:62917000-62941200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:62917200-62940800	Weak transcription	NHEK	skin
17	chr1:62917400-62940200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:62918800-62950000	Weak transcription	GM12878-XiMat	blood
19	chr1:62918800-62950800	Weak transcription	K562	blood
20	chr1:62919000-62959200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:62919400-62937000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:62919400-62940800	Weak transcription	NHLF	lung
23	chr1:62919800-62937000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:62920000-62937000	Weak transcription	Pancreas	Pancrea
25	chr1:62920000-62971000	Weak transcription	Thymus	Thymus
26	chr1:62920000-62980200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:62920600-62939600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:62921400-62940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:62922200-62940800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:62922600-62937600	Weak transcription	HMEC	breast
31	chr1:62922600-62982000	Weak transcription	A549	lung
32	chr1:62923200-62938400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:62923200-62979200	Weak transcription	Fetal Thymus	thymus
34	chr1:62923400-62938400	Weak transcription	Placenta	Placenta
35	chr1:62923600-62938600	Weak transcription	HUVEC	blood vessel
36	chr1:62924000-62937000	Weak transcription	Lung	lung
37	chr1:62924200-62938600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:62927800-62943600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:62929200-62943400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:62929400-62940800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:62930200-62941800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:62930600-62937600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr1:62930600-62943400	Strong transcription	Liver	Liver
44	chr1:62932200-62938400	Weak transcription	NH-A	brain
45	chr1:62932200-62949200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:62932400-62937000	Weak transcription	Primary T cells from cord blood	blood
47	chr1:62932400-62938200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr1:62932400-62940400	Weak transcription	Fetal Brain Male	brain
49	chr1:62932600-62937600	Weak transcription	NHDF-Ad	bronchial
50	chr1:62932600-62938200	Weak transcription	Small Intestine	intestine

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