Variant report

Variant	rs9320809
Chromosome Location	chr6:121656844-121656845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr6:121655234-121657101	K562	blood:	n/a	chr6:121656078-121656092 chr6:121656077-121656091 chr6:121656078-121656098 chr6:121656083-121656097 chr6:121656086-121656096 chr6:121656080-121656094 chr6:121656082-121656096 chr6:121656035-121656044 chr6:121656080-121656091 chr6:121656080-121656101 chr6:121656079-121656091 chr6:121656079-121656091 chr6:121656086-121656097 chr6:121656079-121656096 chr6:121656081-121656092 chr6:121656048-121656059 chr6:121656084-121656097 chr6:121656087-121656098 chr6:121656084-121656097 chr6:121656078-121656091 chr6:121656080-121656090 chr6:121656076-121656090 chr6:121656079-121656093 chr6:121656086-121656100 chr6:121656084-121656097
2	MAFF	chr6:121656817-121657117	HepG2	liver:	n/a	n/a
3	MAZ	chr6:121655352-121657021	IMR90	lung:	n/a	n/a
4	TCF7L2	chr6:121656479-121657123	PANC-1	pancreas:	n/a	chr6:121656824-121656833 chr6:121656820-121656836 chr6:121656821-121656835 chr6:121656820-121656836
5	MXI1	chr6:121655221-121656900	IMR90	lung:	n/a	n/a
6	POLR2A	chr6:121655379-121656950	GM19099	blood:	n/a	n/a
7	MAFK	chr6:121656798-121657056	IMR90	lung:	n/a	chr6:121656946-121656966
8	MAFK	chr6:121656782-121657138	HepG2	liver:	n/a	chr6:121656946-121656966
9	POLR2A	chr6:121655390-121657236	MCF10A-Er-Src	breast:	n/a	n/a
10	BRCA1	chr6:121656836-121656893	GM12878	blood:	n/a	n/a
11	MAX	chr6:121655406-121656981	NB4	blood:	n/a	n/a
12	MYC	chr6:121655434-121656945	K562	blood:	n/a	n/a
13	MAFK	chr6:121656792-121657113	HepG2	liver:	n/a	chr6:121656946-121656966
14	JUND	chr6:121655452-121656951	K562	blood:	n/a	chr6:121655917-121655926 chr6:121656077-121656089

Variant related genes	Relation type
TBC1D32	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10434879	0.81[JPT][hapmap]
rs11153997	0.82[AFR][1000 genomes]
rs12664050	0.82[AFR][1000 genomes]
rs2202065	0.83[JPT][hapmap]
rs2389414	0.96[CHB][hapmap];0.81[ASN][1000 genomes]
rs2389415	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34448375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9320803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9372648	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9375002	0.94[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs9375018	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9387937	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9387940	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9387947	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9398629	0.81[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs9398632	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9401381	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9401384	0.81[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9482123	0.96[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs9490138	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.84[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	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830789	chr6:121581450-121732320	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121654400-121657000	Active TSS	Duodenum Mucosa	Duodenum
2	chr6:121655200-121657000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr6:121655200-121657000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:121655200-121657000	Active TSS	Rectal Smooth Muscle	rectum
5	chr6:121656000-121657000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:121656200-121657000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:121656200-121657000	Flanking Active TSS	Dnd41	blood
8	chr6:121656200-121657000	Flanking Active TSS	K562	blood
9	chr6:121656200-121662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:121656400-121657000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:121656400-121657000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr6:121656600-121657000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr6:121656600-121657000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:121656600-121657000	Enhancers	Brain Cingulate Gyrus	brain
15	chr6:121656600-121657000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:121656600-121657000	Bivalent Enhancer	HepG2	liver
17	chr6:121656600-121659600	Weak transcription	Fetal Stomach	stomach
18	chr6:121656800-121657000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:121656800-121657000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:121656800-121657000	Active TSS	Primary hematopoietic stem cells	blood
21	chr6:121656800-121657000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:121656800-121657000	Enhancers	Brain Angular Gyrus	brain
23	chr6:121656800-121657000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr6:121656800-121657000	Active TSS	Thymus	Thymus
25	chr6:121656800-121657000	Enhancers	GM12878-XiMat	blood
26	chr6:121656800-121657000	Enhancers	Hela-S3	cervix
27	chr6:121656800-121657000	Enhancers	HMEC	breast
28	chr6:121656800-121657200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr6:121656800-121657200	Enhancers	Brain Anterior Caudate	brain
30	chr6:121656800-121660000	Weak transcription	Fetal Lung	lung
31	chr6:121656800-121660800	Weak transcription	Fetal Kidney	kidney
32	chr6:121656800-121661000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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