Variant report

Variant	rs17011799
Chromosome Location	chr10:50298191-50298192
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50298074..50299624-chr10:50316267..50318551,2	K562	blood:
2	chr10:50288196..50290467-chr10:50297375..50300354,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10508911	1.00[CEU][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs10857434	1.00[CEU][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs11100985	1.00[CEU][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs11100994	0.91[EUR][1000 genomes]
rs11814277	0.95[CEU][hapmap];1.00[CHD][hapmap]
rs11814668	0.91[EUR][1000 genomes]
rs11815070	0.91[EUR][1000 genomes]
rs11816318	0.95[CEU][hapmap]
rs11817325	0.95[CEU][hapmap]
rs12780892	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17011692	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17011715	0.95[CEU][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17011726	0.90[ASW][hapmap];0.95[CEU][hapmap];1.00[LWK][hapmap];0.94[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17011755	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17773666	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17774058	1.00[CHD][hapmap]
rs28505677	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36116147	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4264085	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4272720	0.95[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs4453139	0.94[CEU][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs45563932	0.84[EUR][1000 genomes]
rs55648711	0.91[EUR][1000 genomes]
rs55872223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55936311	0.91[EUR][1000 genomes]
rs56027486	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56157539	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56197478	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59889308	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61166027	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61848370	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61848371	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61848377	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61848380	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61850681	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61850682	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61850684	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61850689	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61850690	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61850693	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7084861	0.88[EUR][1000 genomes]
rs72785044	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72785050	0.91[EUR][1000 genomes]
rs72785051	0.91[EUR][1000 genomes]
rs72785060	0.92[EUR][1000 genomes]
rs72785072	0.90[EUR][1000 genomes]
rs72785076	0.91[EUR][1000 genomes]
rs72785084	0.89[EUR][1000 genomes]
rs72785087	0.89[EUR][1000 genomes]
rs72786903	0.82[EUR][1000 genomes]
rs72789086	0.81[EUR][1000 genomes]
rs7905715	0.95[CEU][hapmap];1.00[CHD][hapmap];0.93[TSI][hapmap];0.81[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17011799	PTPRU	trans	parietal	SCAN
rs17011799	MAPK8	cis	cerebellum	SCAN

Chromatin state (count:41 , 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	chr10:50291800-50299600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:50292200-50302600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:50292200-50311800	Weak transcription	Aorta	Aorta
8	chr10:50293400-50312400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:50294800-50302600	Weak transcription	Brain Angular Gyrus	brain
10	chr10:50295200-50298400	Weak transcription	Fetal Intestine Large	intestine
11	chr10:50295800-50298600	Weak transcription	NHLF	lung
12	chr10:50295800-50311600	Weak transcription	K562	blood
13	chr10:50296400-50300200	Enhancers	Right Atrium	heart
14	chr10:50296400-50302200	Enhancers	Right Ventricle	heart
15	chr10:50296400-50304000	Genic enhancers	Fetal Muscle Leg	muscle
16	chr10:50296600-50299000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr10:50296600-50299200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr10:50296600-50299400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:50296600-50299400	Enhancers	Left Ventricle	heart
20	chr10:50296800-50301000	Enhancers	Ovary	ovary
21	chr10:50297000-50299000	Enhancers	Fetal Lung	lung
22	chr10:50297000-50300800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr10:50297200-50298600	Enhancers	Brain Substantia Nigra	brain
24	chr10:50297200-50299000	Enhancers	Colon Smooth Muscle	Colon
25	chr10:50297200-50299400	Enhancers	Lung	lung
26	chr10:50297200-50299600	Genic enhancers	Fetal Stomach	stomach
27	chr10:50297400-50298600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:50297400-50299600	Enhancers	Adipose Nuclei	Adipose
29	chr10:50297600-50298800	Enhancers	Fetal Heart	heart
30	chr10:50297600-50299400	Enhancers	Placenta	Placenta
31	chr10:50297600-50302800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:50297600-50303800	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr10:50297800-50298200	Enhancers	Stomach Smooth Muscle	stomach
34	chr10:50297800-50298600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:50297800-50298800	Enhancers	HSMM	muscle
36	chr10:50297800-50299000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr10:50298000-50298200	Flanking Active TSS	HSMMtube	muscle
38	chr10:50298000-50298600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:50298000-50298800	Enhancers	Brain Hippocampus Middle	brain
40	chr10:50298000-50299200	Enhancers	Psoas Muscle	Psoas
41	chr10:50298000-50299400	Enhancers	Skeletal Muscle Male	skeletal muscle

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