Variant report

Variant	rs4675748
Chromosome Location	chr2:209162093-209162094
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10171006	0.94[ASN][1000 genomes]
rs10173938	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10174541	0.98[EUR][1000 genomes]
rs10175739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10176626	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10177810	0.84[EUR][1000 genomes]
rs10182087	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10186350	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs10186531	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10189031	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190458	0.82[EUR][1000 genomes]
rs10194539	0.98[EUR][1000 genomes]
rs10197958	0.85[ASN][1000 genomes]
rs10198535	0.95[EUR][1000 genomes]
rs10201702	0.94[ASN][1000 genomes]
rs10208004	0.91[ASN][1000 genomes]
rs10208191	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10208295	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10210393	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497897	0.98[EUR][1000 genomes]
rs10497898	0.98[EUR][1000 genomes]
rs1057390	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs10804168	0.94[ASN][1000 genomes]
rs10932256	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10932259	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10932260	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677618	0.91[ASN][1000 genomes]
rs11691208	0.94[ASN][1000 genomes]
rs11691313	0.94[ASN][1000 genomes]
rs11693993	0.83[ASN][1000 genomes]
rs11885913	0.81[CEU][hapmap]
rs11897897	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap]
rs11898653	0.95[EUR][1000 genomes]
rs11901959	0.98[EUR][1000 genomes]
rs12185709	0.90[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12475932	0.81[CEU][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12479282	0.91[ASN][1000 genomes]
rs12623816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12694104	0.90[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12694105	0.91[ASN][1000 genomes]
rs12694109	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13392540	0.86[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13395304	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13407268	0.84[EUR][1000 genomes]
rs13407897	0.98[EUR][1000 genomes]
rs13412043	0.98[EUR][1000 genomes]
rs1370370	0.94[ASN][1000 genomes]
rs1370375	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1370377	1.00[JPT][hapmap]
rs1437414	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1584200	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1595329	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16840798	1.00[CHB][hapmap]
rs16840864	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16840898	0.94[ASN][1000 genomes]
rs16840910	0.94[ASN][1000 genomes]
rs16840936	0.94[ASN][1000 genomes]
rs16841092	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841231	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841233	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841234	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841242	0.88[CHB][hapmap]
rs17700235	0.81[CEU][hapmap]
rs1866044	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1866045	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1866046	0.81[CEU][hapmap]
rs1898436	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1898437	0.80[ASN][1000 genomes]
rs1900239	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2196604	0.86[ASN][1000 genomes]
rs2304545	0.86[EUR][1000 genomes]
rs2363465	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2363466	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2363468	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28418905	0.86[EUR][1000 genomes]
rs2885786	0.85[ASN][1000 genomes]
rs35293936	0.81[TSI][hapmap]
rs3856350	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4462735	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.86[TSI][hapmap]
rs4673390	0.91[ASN][1000 genomes]
rs4673391	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673392	0.85[ASN][1000 genomes]
rs4673393	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673394	0.91[CEU][hapmap];0.82[YRI][hapmap]
rs4673395	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4675750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4675751	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675761	0.83[ASN][1000 genomes]
rs57797425	0.94[ASN][1000 genomes]
rs60446438	0.85[ASN][1000 genomes]
rs6435441	0.94[ASN][1000 genomes]
rs6435443	0.94[ASN][1000 genomes]
rs66887797	0.95[EUR][1000 genomes]
rs6708926	0.94[ASN][1000 genomes]
rs6711933	0.94[ASN][1000 genomes]
rs6713477	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6721780	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs6724208	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725418	0.82[CEU][hapmap]
rs6725932	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6733607	0.94[ASN][1000 genomes]
rs6736599	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs67669827	0.98[EUR][1000 genomes]
rs67965883	0.88[EUR][1000 genomes]
rs73056463	0.98[EUR][1000 genomes]
rs7355562	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73983727	0.88[ASN][1000 genomes]
rs7557303	0.98[EUR][1000 genomes]
rs7569723	0.94[ASN][1000 genomes]
rs7574324	0.94[ASN][1000 genomes]
rs7581075	0.94[ASN][1000 genomes]
rs7583022	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs7587752	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592472	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs893256	0.94[ASN][1000 genomes]
rs9283521	0.94[ASN][1000 genomes]
rs9288392	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934712	0.94[ASN][1000 genomes]
rs934714	0.94[ASN][1000 genomes]
rs959660	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs959855	0.94[ASN][1000 genomes]
rs962595	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9646839	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs999890	0.91[CEU][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs999891	0.91[CEU][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4675748	GPR1	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:209139000-209163400	Weak transcription	Right Ventricle	heart
3	chr2:209139400-209180000	Strong transcription	Fetal Thymus	thymus
4	chr2:209141200-209180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:209141800-209169000	Weak transcription	Hela-S3	cervix
6	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
7	chr2:209147800-209168200	Weak transcription	Gastric	stomach
8	chr2:209148600-209163400	Weak transcription	Lung	lung
9	chr2:209148600-209167600	Weak transcription	Esophagus	oesophagus
10	chr2:209148600-209169600	Weak transcription	Spleen	Spleen
11	chr2:209149600-209179800	Strong transcription	Dnd41	blood
12	chr2:209152600-209163400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:209152600-209163400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:209152600-209163400	Weak transcription	NHEK	skin
15	chr2:209153200-209165800	Weak transcription	Fetal Heart	heart
16	chr2:209154000-209163400	Weak transcription	Left Ventricle	heart
17	chr2:209154000-209163600	Weak transcription	Colonic Mucosa	Colon
18	chr2:209154000-209168400	Weak transcription	NHLF	lung
19	chr2:209154600-209164200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:209155000-209163400	Weak transcription	Aorta	Aorta
21	chr2:209155000-209163400	Weak transcription	Pancreas	Pancrea
22	chr2:209155400-209164600	Weak transcription	Psoas Muscle	Psoas
23	chr2:209155400-209168400	Weak transcription	HSMMtube	muscle
24	chr2:209155400-209169400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:209155600-209163200	Weak transcription	HUVEC	blood vessel
26	chr2:209155600-209163400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:209155600-209164400	Weak transcription	NH-A	brain
28	chr2:209155600-209165400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:209155600-209169600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:209155600-209170000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:209155800-209163400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:209155800-209163400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:209155800-209163400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:209155800-209163400	Weak transcription	Ovary	ovary
35	chr2:209155800-209165200	Weak transcription	Fetal Brain Male	brain
36	chr2:209155800-209165600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:209155800-209165600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:209156000-209163200	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:209156000-209163200	Weak transcription	NHDF-Ad	bronchial
40	chr2:209156000-209163400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:209156000-209163400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:209156000-209163400	Weak transcription	Osteobl	bone
43	chr2:209156000-209164400	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:209156000-209164600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:209156000-209165600	Weak transcription	Brain Angular Gyrus	brain
46	chr2:209156000-209180000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:209156200-209163400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:209156200-209163400	Weak transcription	Brain Anterior Caudate	brain
49	chr2:209156200-209163400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:209156200-209163400	Weak transcription	Rectal Smooth Muscle	rectum

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