Variant report

Variant	rs197505
Chromosome Location	chr6:143098876-143098877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs174741	0.81[ASN][1000 genomes]
rs197455	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs197458	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs197494	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs197496	0.81[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs197497	0.81[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs197498	0.83[ASN][1000 genomes]
rs197499	0.83[ASN][1000 genomes]
rs197500	0.83[ASN][1000 genomes]
rs197501	0.83[ASN][1000 genomes]
rs197502	0.83[ASN][1000 genomes]
rs197507	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197508	0.97[ASN][1000 genomes]
rs197509	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197510	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs197511	0.81[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs576657	0.85[CHB][hapmap]
rs9496464	0.83[ASN][1000 genomes]

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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830828	chr6:142970134-143116517	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs197505	GPR126	cis	parietal	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143081800-143105600	Weak transcription	Small Intestine	intestine
2	chr6:143091200-143099600	Weak transcription	Right Atrium	heart
3	chr6:143091400-143102800	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:143092800-143102600	Weak transcription	Psoas Muscle	Psoas
5	chr6:143093000-143101400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:143094200-143104600	Weak transcription	Brain Angular Gyrus	brain
7	chr6:143094800-143109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:143095400-143101200	Weak transcription	Fetal Brain Male	brain
9	chr6:143095600-143102400	Weak transcription	Aorta	Aorta
10	chr6:143095600-143102600	Weak transcription	Brain Germinal Matrix	brain
11	chr6:143095800-143100000	Weak transcription	HMEC	breast
12	chr6:143095800-143101400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:143095800-143102400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:143095800-143103400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:143095800-143117600	Weak transcription	Fetal Lung	lung
16	chr6:143095800-143122200	Weak transcription	NHEK	skin
17	chr6:143096000-143101200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:143096000-143101400	Weak transcription	Right Ventricle	heart
19	chr6:143096000-143102400	Weak transcription	Primary B cells from cord blood	blood
20	chr6:143096000-143102400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:143096000-143102600	Weak transcription	Brain Anterior Caudate	brain
22	chr6:143096000-143102600	Weak transcription	Placenta	Placenta
23	chr6:143096000-143102600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:143096000-143102600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:143096000-143102600	Weak transcription	NHDF-Ad	bronchial
26	chr6:143096000-143102800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:143096000-143102800	Weak transcription	Fetal Brain Female	brain
28	chr6:143096000-143102800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:143096000-143103000	Weak transcription	Ovary	ovary
30	chr6:143096000-143103400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:143096000-143104400	Weak transcription	Fetal Stomach	stomach
32	chr6:143096000-143104800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:143096000-143104800	Weak transcription	Liver	Liver
34	chr6:143096000-143105000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:143096000-143105600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:143096000-143107200	Weak transcription	Brain Substantia Nigra	brain
37	chr6:143096000-143108000	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:143096000-143108400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:143096000-143111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr6:143096000-143117800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:143096000-143122000	Weak transcription	Fetal Intestine Small	intestine
42	chr6:143096200-143099000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:143096200-143099000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr6:143096200-143099000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr6:143096200-143099000	Weak transcription	Pancreas	Pancrea
46	chr6:143096200-143099000	Weak transcription	GM12878-XiMat	blood
47	chr6:143096200-143099200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr6:143096200-143099200	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:143096200-143100200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr6:143096200-143101400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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