Variant report

Variant	rs11100985
Chromosome Location	chr10:50307286-50307287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10508911	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857434	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11100986	0.80[AFR][1000 genomes]
rs11100994	0.89[EUR][1000 genomes]
rs11814277	0.95[CEU][hapmap]
rs11814668	0.89[EUR][1000 genomes]
rs11815070	0.89[EUR][1000 genomes]
rs11816318	0.95[CEU][hapmap]
rs11817325	0.95[CEU][hapmap]
rs12098770	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs12780892	0.80[EUR][1000 genomes]
rs17011692	0.95[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs17011715	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs17011726	0.95[CEU][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs17011755	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17011799	1.00[CEU][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs17773666	1.00[CEU][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28505677	0.84[EUR][1000 genomes]
rs36116147	0.90[EUR][1000 genomes]
rs4129034	1.00[JPT][hapmap]
rs4264085	0.87[EUR][1000 genomes]
rs4272720	0.95[CEU][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs4437954	1.00[JPT][hapmap]
rs4453139	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs45563932	0.82[EUR][1000 genomes]
rs55648711	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55872223	0.95[EUR][1000 genomes]
rs55936311	0.89[EUR][1000 genomes]
rs56027486	0.90[EUR][1000 genomes]
rs56157539	0.90[EUR][1000 genomes]
rs56197478	0.95[EUR][1000 genomes]
rs59889308	0.91[EUR][1000 genomes]
rs61166027	0.89[EUR][1000 genomes]
rs61848370	0.90[EUR][1000 genomes]
rs61848371	0.90[EUR][1000 genomes]
rs61848377	0.91[EUR][1000 genomes]
rs61848380	0.92[EUR][1000 genomes]
rs61850681	0.89[EUR][1000 genomes]
rs61850682	0.87[EUR][1000 genomes]
rs61850684	0.88[EUR][1000 genomes]
rs61850689	0.90[EUR][1000 genomes]
rs61850690	0.90[EUR][1000 genomes]
rs61850693	0.90[EUR][1000 genomes]
rs7084861	0.88[EUR][1000 genomes]
rs72785044	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72785050	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785051	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785060	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72785072	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785076	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785084	0.88[EUR][1000 genomes]
rs72785087	0.88[EUR][1000 genomes]
rs72786903	0.84[EUR][1000 genomes]
rs72789086	0.80[EUR][1000 genomes]
rs7905715	0.95[CEU][hapmap];0.90[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11100985	C10orf128	Cis_1M	lymphoblastoid	RTeQTL
rs11100985	PTPRU	trans	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50290800-50315400	Weak transcription	Fetal Intestine Small	intestine
2	chr10:50292200-50311800	Weak transcription	Aorta	Aorta
3	chr10:50293400-50312400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:50295800-50311600	Weak transcription	K562	blood
5	chr10:50298600-50310400	Weak transcription	Fetal Intestine Large	intestine
6	chr10:50298600-50314400	Weak transcription	NHDF-Ad	bronchial
7	chr10:50299000-50312600	Weak transcription	Fetal Lung	lung
8	chr10:50299200-50307600	Weak transcription	Pancreas	Pancrea
9	chr10:50299600-50307400	Strong transcription	Fetal Stomach	stomach
10	chr10:50299600-50312200	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:50299600-50314400	Weak transcription	HSMMtube	muscle
12	chr10:50300800-50312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:50300800-50314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:50303200-50310600	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:50303200-50314600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr10:50303400-50313600	Weak transcription	Brain Substantia Nigra	brain
17	chr10:50303400-50314400	Weak transcription	Brain Anterior Caudate	brain
18	chr10:50303600-50314400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:50303600-50314400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:50303800-50314600	Weak transcription	Esophagus	oesophagus
21	chr10:50304000-50309600	Weak transcription	Adipose Nuclei	Adipose
22	chr10:50304000-50314400	Weak transcription	Brain Angular Gyrus	brain
23	chr10:50304600-50314400	Weak transcription	Liver	Liver
24	chr10:50304800-50317600	Weak transcription	Fetal Heart	heart
25	chr10:50305000-50307800	Genic enhancers	Fetal Muscle Leg	muscle
26	chr10:50305400-50307400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr10:50305400-50314400	Weak transcription	NHLF	lung
28	chr10:50305800-50313600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:50306000-50307400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:50306000-50307400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr10:50306400-50311600	Weak transcription	Right Atrium	heart
32	chr10:50306400-50314600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr10:50306600-50307400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:50307000-50307400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:50307000-50307400	Strong transcription	Ovary	ovary
36	chr10:50307000-50312000	Weak transcription	Left Ventricle	heart
37	chr10:50307000-50312400	Weak transcription	Right Ventricle	heart
38	chr10:50307200-50311800	Weak transcription	Fetal Muscle Trunk	muscle

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