Variant report

Variant	rs6763231
Chromosome Location	chr3:134010124-134010125
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11922449	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11922472	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12630508	0.95[ASN][1000 genomes]
rs12637259	0.92[EUR][1000 genomes]
rs12695607	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12695608	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4459872	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4461395	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72986487	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9858570	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9869876	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6763231	SOX14	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134007600-134010400	Weak transcription	Colonic Mucosa	Colon
2	chr3:134008200-134011000	Enhancers	Fetal Lung	lung
3	chr3:134008800-134010600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:134009600-134011000	Enhancers	Fetal Stomach	stomach
5	chr3:134009800-134010200	Enhancers	Stomach Smooth Muscle	stomach
6	chr3:134009800-134010400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:134009800-134010600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:134009800-134010600	Enhancers	Colon Smooth Muscle	Colon
9	chr3:134009800-134010600	Enhancers	Ovary	ovary
10	chr3:134009800-134010800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:134009800-134010800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:134009800-134010800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr3:134009800-134010800	Enhancers	Hela-S3	cervix
14	chr3:134009800-134011000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:134009800-134011000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:134009800-134011000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:134009800-134011000	Enhancers	Fetal Heart	heart
18	chr3:134009800-134011000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr3:134009800-134011200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:134010000-134010200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:134010000-134010600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:134010000-134010600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:134010000-134010600	Enhancers	Brain Substantia Nigra	brain
24	chr3:134010000-134010600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr3:134010000-134010600	Enhancers	Placenta	Placenta
26	chr3:134010000-134010600	Enhancers	Left Ventricle	heart
27	chr3:134010000-134010600	Enhancers	Rectal Smooth Muscle	rectum
28	chr3:134010000-134010600	Enhancers	Right Atrium	heart
29	chr3:134010000-134010600	Enhancers	K562	blood
30	chr3:134010000-134011000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr3:134010000-134011000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:134010000-134011000	Enhancers	Adipose Nuclei	Adipose
33	chr3:134010000-134011000	Enhancers	Fetal Muscle Leg	muscle
34	chr3:134010000-134011000	Enhancers	Right Ventricle	heart

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