Variant report

Variant	rs4445564
Chromosome Location	chr10:50296622-50296623
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10508910	1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs12244666	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12244748	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12253426	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12255090	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12256777	0.82[ASW][hapmap];0.95[CEU][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12257242	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12261297	1.00[CEU][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12269023	0.80[CEU][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes]
rs12762834	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs12762859	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs12763447	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs12765281	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs12769361	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12772732	0.88[ASN][1000 genomes]
rs12774117	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs12774293	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12776460	1.00[CEU][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes]
rs17011744	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17011746	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17011757	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17175928	1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs17700872	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17701186	0.84[EUR][1000 genomes]
rs17773851	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs17782595	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs17782649	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs17782673	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs17782691	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs2003044	0.95[CEU][hapmap];0.89[TSI][hapmap]
rs2137911	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2137912	0.95[CEU][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2246673	0.95[CEU][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2264846	0.95[CEU][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2264847	0.95[CEU][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2490838	0.83[EUR][1000 genomes]
rs2725179	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs2725181	0.95[CEU][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs2725184	0.83[EUR][1000 genomes]
rs2725185	0.83[EUR][1000 genomes]
rs2725190	0.83[EUR][1000 genomes]
rs2804937	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs34062275	0.83[EUR][1000 genomes]
rs34110351	0.84[EUR][1000 genomes]
rs34289781	0.95[EUR][1000 genomes]
rs34347666	0.88[ASN][1000 genomes]
rs34364659	0.96[EUR][1000 genomes]
rs34373855	0.93[ASN][1000 genomes]
rs34467986	0.84[EUR][1000 genomes]
rs34574986	0.93[EUR][1000 genomes]
rs34640094	0.96[EUR][1000 genomes]
rs34712064	0.93[ASN][1000 genomes]
rs34878380	0.96[EUR][1000 genomes]
rs35311796	0.86[ASN][1000 genomes]
rs35341824	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35462783	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35496464	0.90[ASN][1000 genomes]
rs35621290	0.93[ASN][1000 genomes]
rs35905744	0.86[EUR][1000 genomes]
rs35922675	0.96[EUR][1000 genomes]
rs4012666	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs4073138	0.83[EUR][1000 genomes]
rs4073139	0.85[EUR][1000 genomes]
rs4129035	0.80[AMR][1000 genomes]
rs4293050	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[ASN][1000 genomes]
rs4310535	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs4317903	0.82[AMR][1000 genomes]
rs4317904	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs4342944	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs4364979	0.85[EUR][1000 genomes]
rs4400713	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4402204	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4403731	0.80[CEU][hapmap]
rs4421674	0.84[CHD][hapmap]
rs4481947	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4483510	1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs4508127	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4600129	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4617506	0.86[ASN][1000 genomes]
rs4644582	0.85[EUR][1000 genomes]
rs55947405	0.86[EUR][1000 genomes]
rs56291725	0.96[EUR][1000 genomes]
rs58154726	0.95[EUR][1000 genomes]
rs58893558	0.84[EUR][1000 genomes]
rs6537497	0.86[CHD][hapmap]
rs67269950	0.84[EUR][1000 genomes]
rs68065270	0.95[EUR][1000 genomes]
rs7070387	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7073208	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7081243	0.84[EUR][1000 genomes]
rs7085823	0.95[CEU][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7088718	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7097933	0.80[CEU][hapmap]
rs7100655	0.95[CEU][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs71500261	0.85[ASN][1000 genomes]
rs71500264	0.93[ASN][1000 genomes]
rs72785015	0.96[EUR][1000 genomes]
rs7896344	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9804403	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][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	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	esv2761593	chr10:50276812-50336129	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4445564	DRGX	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50283200-50298200	Weak transcription	Spleen	Spleen
2	chr10:50289600-50298800	Weak transcription	Fetal Thymus	thymus
3	chr10:50290200-50298200	Weak transcription	Colonic Mucosa	Colon
4	chr10:50290800-50315400	Weak transcription	Fetal Intestine Small	intestine
5	chr10:50291200-50297200	Weak transcription	Lung	lung
6	chr10:50291800-50299600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:50292200-50302600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:50292200-50311800	Weak transcription	Aorta	Aorta
9	chr10:50293200-50297000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr10:50293400-50296800	Weak transcription	Ovary	ovary
11	chr10:50293400-50312400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:50294800-50302600	Weak transcription	Brain Angular Gyrus	brain
13	chr10:50295200-50296800	Weak transcription	HSMMtube	muscle
14	chr10:50295200-50297200	Weak transcription	Fetal Brain Male	brain
15	chr10:50295200-50298000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:50295200-50298400	Weak transcription	Fetal Intestine Large	intestine
17	chr10:50295600-50297400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:50295800-50298600	Weak transcription	NHLF	lung
19	chr10:50295800-50311600	Weak transcription	K562	blood
20	chr10:50296400-50296800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:50296400-50300200	Enhancers	Right Atrium	heart
22	chr10:50296400-50302200	Enhancers	Right Ventricle	heart
23	chr10:50296400-50304000	Genic enhancers	Fetal Muscle Leg	muscle
24	chr10:50296600-50296800	Active TSS	Colon Smooth Muscle	Colon
25	chr10:50296600-50297000	Genic enhancers	Fetal Lung	lung
26	chr10:50296600-50297000	Genic enhancers	Stomach Smooth Muscle	stomach
27	chr10:50296600-50297200	Strong transcription	Fetal Stomach	stomach
28	chr10:50296600-50297400	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr10:50296600-50299000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr10:50296600-50299200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr10:50296600-50299400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:50296600-50299400	Enhancers	Left Ventricle	heart

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