Variant report

Variant	rs10493328
Chromosome Location	chr1:63266720-63266721
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	chr1:63259687..63262004-chr1:63264703..63267099,2	K562	blood:
2	chr1:63266221..63268725-chr1:63270799..63273320,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10493329	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789127	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789128	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889367	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10889377	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889378	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889379	0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889380	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889381	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208011	0.87[EUR][1000 genomes]
rs11208012	0.87[EUR][1000 genomes]
rs11208014	0.83[EUR][1000 genomes]
rs11208015	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11208016	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11208017	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11208029	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208031	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208039	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208041	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208042	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208044	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208048	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208054	0.86[EUR][1000 genomes]
rs11208055	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061691	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066108	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066524	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067646	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078873	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12080049	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12083738	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12084633	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085400	0.82[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085401	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087034	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12096696	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12097658	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116959	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12117272	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12121207	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122041	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125325	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125986	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126307	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12129322	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12129355	0.87[EUR][1000 genomes]
rs12131553	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12132170	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12132297	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12133142	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12133507	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12135672	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136636	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141183	0.87[EUR][1000 genomes]
rs12143139	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12409274	0.82[EUR][1000 genomes]
rs17123817	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123830	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123896	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123899	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17388170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927485	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927486	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4370785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4409690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4457613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55835075	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55936326	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55954926	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56280875	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56305462	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56329995	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56935211	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57653096	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58583743	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59317258	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60528349	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61765879	0.83[EUR][1000 genomes]
rs61765883	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61775965	0.87[EUR][1000 genomes]
rs6587988	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657622	0.87[EUR][1000 genomes]
rs6658682	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7416683	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513999	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533354	0.88[EUR][1000 genomes]
rs7546879	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943696	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830015	chr1:63261143-63455296	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10493328	DOCK7	Cis_1M	lymphoblastoid	RTeQTL
rs10493328	ATG4C	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63250800-63319000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:63251000-63269600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:63251000-63272600	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:63251000-63274800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:63251000-63296000	Weak transcription	Fetal Thymus	thymus
6	chr1:63251000-63317800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:63251000-63327400	Weak transcription	Fetal Stomach	stomach
8	chr1:63251200-63327400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:63251400-63275600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:63251800-63273000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:63252000-63269600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:63252000-63284400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:63252800-63272400	Weak transcription	Primary T cells from cord blood	blood
14	chr1:63257400-63293400	Weak transcription	Brain Anterior Caudate	brain
15	chr1:63260200-63273000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:63261000-63269400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:63261600-63326400	Weak transcription	Placenta	Placenta
18	chr1:63262800-63276000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:63262800-63293000	Weak transcription	Brain Substantia Nigra	brain
20	chr1:63263000-63273000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:63263400-63274800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:63264800-63282800	Weak transcription	Left Ventricle	heart
23	chr1:63265200-63268200	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:63265400-63267200	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:63265400-63267800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:63265800-63267400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:63265800-63272200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:63266000-63266800	Enhancers	Small Intestine	intestine
29	chr1:63266000-63267200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:63266000-63267400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:63266200-63266800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:63266200-63267200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr1:63266200-63276200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:63266400-63267000	Enhancers	Rectal Smooth Muscle	rectum
35	chr1:63266400-63267200	Flanking Active TSS	GM12878-XiMat	blood
36	chr1:63266400-63268400	Enhancers	Brain Hippocampus Middle	brain
37	chr1:63266600-63266800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:63266600-63266800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr1:63266600-63266800	Enhancers	Fetal Kidney	kidney
40	chr1:63266600-63266800	Enhancers	Gastric	stomach
41	chr1:63266600-63267000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:63266600-63267000	Enhancers	Fetal Lung	lung
43	chr1:63266600-63267000	Enhancers	HUVEC	blood vessel
44	chr1:63266600-63267200	Enhancers	Colon Smooth Muscle	Colon
45	chr1:63266600-63267200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:63266600-63267200	Enhancers	NHLF	lung
47	chr1:63266600-63270600	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links