Variant report

Variant	rs1781221
Chromosome Location	chr1:63006842-63006843
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1002687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1007205	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];1.00[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];0.95[YRI][hapmap]
rs10789118	0.96[CEU][hapmap];0.81[JPT][hapmap]
rs10789119	0.95[CEU][hapmap]
rs10889332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10889333	0.95[CEU][hapmap]
rs10889334	0.96[CEU][hapmap];0.81[JPT][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];1.00[YRI][hapmap]
rs10889349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10889350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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]
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];1.00[YRI][hapmap]
rs11207990	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[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]
rs11207998	0.81[JPT][hapmap]
rs11208000	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs11208004	0.95[CEU][hapmap]
rs11485618	0.96[CEU][hapmap];0.81[JPT][hapmap]
rs11577840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1167998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs1168009	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs1168010	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1168013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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];1.00[YRI][hapmap]
rs1168023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1168026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1168030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1168031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1168032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1168036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1168040	0.95[CEU][hapmap];0.94[CHB][hapmap];0.95[YRI][hapmap]
rs1168042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1168045	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1168085	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1168086	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs1168089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs1168099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1168113	0.96[CEU][hapmap];0.90[YRI][hapmap]
rs1168114	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs1168124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs1168132	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap]
rs1183260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs1184865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12039115	0.90[JPT][hapmap]
rs12042319	0.96[CEU][hapmap]
rs12090886	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs12116574	0.95[CEU][hapmap]
rs12136083	0.91[CEU][hapmap]
rs12403207	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1570694	0.95[CEU][hapmap]
rs1627591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1748195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1748197	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1748199	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1748200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1748201	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs1781195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1781212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[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];1.00[YRI][hapmap]
rs2366638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3850634	0.95[CEU][hapmap]
rs3913007	0.95[CEU][hapmap]
rs4329540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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]
rs626787	1.00[CHB][hapmap];0.81[JPT][hapmap]
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]
rs637723	0.96[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap]
rs638305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs641540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs642845	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap]
rs656297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs6587980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs659656	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap]
rs6675401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs6678483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6682423	0.96[CEU][hapmap]
rs6690733	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7539035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7555577	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs783291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs880694	0.96[CEU][hapmap]
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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1781221	DOCK7	cis	uninvolved skin	skin_eQTL
rs1781221	DOCK7	Cis_1M	lymphoblastoid	RTeQTL
rs1781221	DOCK7	cis	lesional skin	skin_eQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62939600-63040600	Weak transcription	Aorta	Aorta
2	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
4	chr1:62941600-63011800	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:62941800-63030200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:62954000-63053400	Weak transcription	Fetal Brain Male	brain
7	chr1:62957800-63050200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:62958200-63010800	Weak transcription	Brain Substantia Nigra	brain
9	chr1:62958200-63061000	Weak transcription	Lung	lung
10	chr1:62960400-63011800	Weak transcription	Pancreas	Pancrea
11	chr1:62979200-63026200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:62979600-63030200	Weak transcription	NHEK	skin
13	chr1:62982800-63010200	Weak transcription	A549	lung
14	chr1:62984200-63028000	Weak transcription	Esophagus	oesophagus
15	chr1:62985400-63026200	Weak transcription	Primary B cells from cord blood	blood
16	chr1:62991000-63027200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:62991200-63010600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:62991200-63025800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:62991400-63010200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:62993000-63022000	Weak transcription	GM12878-XiMat	blood
21	chr1:62994000-63051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:62994800-63028600	Weak transcription	Right Ventricle	heart
23	chr1:62995000-63030200	Weak transcription	Spleen	Spleen
24	chr1:62997400-63008600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:62997400-63008800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:62997600-63007600	Strong transcription	Fetal Muscle Leg	muscle
27	chr1:62998000-63008600	Strong transcription	Fetal Intestine Large	intestine
28	chr1:62998000-63015400	Weak transcription	Colonic Mucosa	Colon
29	chr1:62998200-63009400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:62998200-63009600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:62998400-63009000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:62998600-63022000	Weak transcription	Fetal Heart	heart
33	chr1:62998600-63024400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:62999400-63009400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:63000200-63008400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:63000200-63037000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:63000200-63054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:63000600-63025400	Weak transcription	Psoas Muscle	Psoas
39	chr1:63000800-63009600	Strong transcription	NHDF-Ad	bronchial
40	chr1:63001400-63017800	Weak transcription	Fetal Stomach	stomach
41	chr1:63001400-63018200	Weak transcription	HMEC	breast
42	chr1:63001400-63028400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:63002200-63021200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:63002400-63008600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:63002600-63009400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:63002600-63018000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:63002800-63022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:63003000-63037400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:63003200-63007200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:63003200-63022000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links