Variant report

Variant	rs6741118
Chromosome Location	chr2:191463287-191463288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10165399	0.80[AFR][1000 genomes]
rs10169169	0.81[EUR][1000 genomes]
rs10171376	0.80[EUR][1000 genomes]
rs10173975	0.81[EUR][1000 genomes]
rs10179262	0.81[EUR][1000 genomes]
rs10185228	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189140	0.81[EUR][1000 genomes]
rs10737936	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11553601	0.80[EUR][1000 genomes]
rs13031452	0.81[EUR][1000 genomes]
rs13384743	0.80[EUR][1000 genomes]
rs13388162	0.83[EUR][1000 genomes]
rs13395233	0.80[EUR][1000 genomes]
rs13398741	0.81[EUR][1000 genomes]
rs13405215	0.81[EUR][1000 genomes]
rs13417310	0.81[EUR][1000 genomes]
rs13418943	0.80[EUR][1000 genomes]
rs13429315	0.80[EUR][1000 genomes]
rs4321393	0.80[AFR][1000 genomes]
rs4853719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58210597	0.81[EUR][1000 genomes]
rs58253207	0.81[EUR][1000 genomes]
rs6434401	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706036	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711561	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054092	0.81[EUR][1000 genomes]
rs7556716	0.84[EUR][1000 genomes]
rs7560045	0.81[EUR][1000 genomes]
rs7564107	0.80[EUR][1000 genomes]
rs7574844	0.81[EUR][1000 genomes]
rs7584379	0.81[EUR][1000 genomes]
rs7594994	0.82[EUR][1000 genomes]
rs7609330	0.80[EUR][1000 genomes]
rs9967829	0.83[AFR][1000 genomes];1.00[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	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6741118	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL
rs6741118	FLJ20160	cis	multi-tissue	Pritchard

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191450400-191469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:191450600-191464400	Weak transcription	Right Atrium	heart
3	chr2:191450600-191467000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:191450600-191467200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:191456600-191465000	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
7	chr2:191457000-191471600	Weak transcription	Psoas Muscle	Psoas
8	chr2:191457200-191467000	Weak transcription	Brain Angular Gyrus	brain
9	chr2:191458400-191463600	Weak transcription	Stomach Mucosa	stomach
10	chr2:191458400-191468200	Weak transcription	Left Ventricle	heart
11	chr2:191460400-191464400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:191461000-191463800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:191461200-191464000	Enhancers	NHEK	skin
14	chr2:191461400-191463800	Enhancers	HMEC	breast
15	chr2:191461400-191464000	Enhancers	NHDF-Ad	bronchial
16	chr2:191461400-191464200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:191461400-191464600	Enhancers	Osteobl	bone
18	chr2:191461600-191464800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:191461600-191464800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:191462000-191471600	Weak transcription	Fetal Lung	lung
21	chr2:191462000-191471600	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:191462400-191463600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:191462400-191463600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:191462600-191464400	Weak transcription	Fetal Heart	heart
25	chr2:191463000-191463800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:191463000-191465400	Enhancers	Hela-S3	cervix
27	chr2:191463200-191463600	Enhancers	Brain Anterior Caudate	brain
28	chr2:191463200-191464200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:191463200-191464200	Enhancers	HUVEC	blood vessel
30	chr2:191463200-191465400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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