Variant report

Variant	rs7767688
Chromosome Location	chr6:144586746-144586747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2064196	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2473128	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2502622	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2502623	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2502624	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2502625	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2502626	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2502627	1.00[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2982241	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7767688	GPR126	cis	parietal	SCAN
rs7767688	SASH1	cis	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144581600-144587200	Weak transcription	Brain Germinal Matrix	brain
2	chr6:144582600-144587400	Weak transcription	Ovary	ovary
3	chr6:144584200-144587400	Weak transcription	Right Ventricle	heart
4	chr6:144584400-144587200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:144584600-144587800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:144584600-144587800	Enhancers	HUVEC	blood vessel
7	chr6:144584800-144587000	Flanking Active TSS	A549	lung
8	chr6:144584800-144587200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:144585000-144586800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:144585000-144586800	Enhancers	NHEK	skin
11	chr6:144585000-144587200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:144585000-144587200	Enhancers	Hela-S3	cervix
13	chr6:144585000-144587400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:144585000-144587600	Enhancers	Fetal Intestine Small	intestine
15	chr6:144585000-144587600	Enhancers	HMEC	breast
16	chr6:144585000-144587800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:144585000-144587800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:144585000-144587800	Enhancers	Fetal Heart	heart
19	chr6:144585000-144587800	Enhancers	Fetal Muscle Leg	muscle
20	chr6:144585000-144587800	Enhancers	NHLF	lung
21	chr6:144585200-144587200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:144585200-144587800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:144585400-144586800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr6:144585400-144586800	Enhancers	Pancreas	Pancrea
25	chr6:144585400-144587000	Flanking Active TSS	HepG2	liver
26	chr6:144585400-144587400	Enhancers	Psoas Muscle	Psoas
27	chr6:144585400-144587800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:144585400-144587800	Enhancers	Liver	Liver
29	chr6:144585400-144588000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr6:144585600-144587600	Enhancers	Primary B cells from peripheral blood	blood
31	chr6:144585600-144587800	Enhancers	Fetal Intestine Large	intestine
32	chr6:144585800-144587400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:144585800-144587800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:144585800-144587800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr6:144586000-144587200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:144586000-144587200	Enhancers	Left Ventricle	heart
37	chr6:144586000-144587600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr6:144586000-144587600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr6:144586000-144587800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr6:144586000-144587800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr6:144586000-144587800	Enhancers	Primary B cells from cord blood	blood
42	chr6:144586200-144587200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:144586200-144587200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:144586200-144587200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:144586200-144587200	Weak transcription	Adipose Nuclei	Adipose
46	chr6:144586200-144587200	Weak transcription	Right Atrium	heart
47	chr6:144586200-144587400	Weak transcription	Fetal Kidney	kidney
48	chr6:144586200-144587800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr6:144586200-144587800	Enhancers	Fetal Lung	lung
50	chr6:144586200-144587800	Enhancers	HSMM	muscle

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