Variant report

Variant	rs6763594
Chromosome Location	chr3:99932755-99932756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:99932243..99933755-chr3:99967811..99970321,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1036770	0.85[EUR][1000 genomes]
rs10936157	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs11915985	0.85[EUR][1000 genomes]
rs1214369	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1214372	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1214373	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12696064	1.00[ASN][1000 genomes]
rs12696084	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13070392	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1609481	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs2028494	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs2029163	1.00[ASN][1000 genomes]
rs277636	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs277652	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs277654	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35950794	1.00[ASN][1000 genomes]
rs3772698	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4552390	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4928119	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs4928169	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs62281675	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6777265	0.95[ASN][1000 genomes]
rs6802765	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6808175	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7427443	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7618677	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7630257	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637157	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7638503	0.88[EUR][1000 genomes]
rs9289985	0.85[JPT][hapmap]
rs931332	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs967608	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs9854260	0.85[JPT][hapmap]
rs9860290	0.85[JPT][hapmap]
rs9863738	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9875878	0.85[JPT][hapmap]
rs9880795	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882337	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[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	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6763594	TBC1D23	cis	Muscle Skeletal	GTEx
rs6763594	TBC1D23	cis	Heart Left Ventricle	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99917800-99933000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:99929600-99935200	Weak transcription	Aorta	Aorta
3	chr3:99929800-99935200	Weak transcription	HSMMtube	muscle
4	chr3:99929800-99935400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:99930000-99932800	Weak transcription	HepG2	liver
6	chr3:99930000-99935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:99930600-99932800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:99930600-99933000	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:99930600-99935000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:99930600-99935200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:99930600-99937400	Weak transcription	Psoas Muscle	Psoas
12	chr3:99930800-99933000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:99930800-99933600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:99930800-99935200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:99931200-99938000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:99932200-99933400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:99932400-99933000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:99932400-99933200	Enhancers	NHDF-Ad	bronchial
19	chr3:99932600-99932800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:99932600-99932800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:99932600-99932800	Enhancers	NHLF	lung
22	chr3:99932600-99933000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:99932600-99933000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:99932600-99933200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:99932600-99933200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:99932600-99933200	Enhancers	NH-A	brain
27	chr3:99932600-99933200	Enhancers	NHEK	skin

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