Variant report

Variant	rs6938708
Chromosome Location	chr6:121482052-121482053
allele	C/T
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	STAT3	chr6:121481862-121482130	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
TBC1D32	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12110608	1.00[EUR][1000 genomes]
rs28449923	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55877152	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56682268	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57850926	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58192637	0.90[AFR][1000 genomes]
rs58654967	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58945053	1.00[EUR][1000 genomes]
rs59243538	1.00[EUR][1000 genomes]
rs61142512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6909278	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766686	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766689	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766692	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766700	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768907	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768908	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768909	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768911	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768913	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768914	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768915	0.95[AFR][1000 genomes]
rs73768916	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768927	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768929	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768930	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768941	1.00[EUR][1000 genomes]
rs73768942	1.00[EUR][1000 genomes]
rs7749984	1.00[MEX][hapmap]
rs7753679	1.00[EUR][1000 genomes]
rs7756842	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7759653	1.00[EUR][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	nsv604572	chr6:121465011-121544876	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121473400-121499000	Weak transcription	Right Ventricle	heart
2	chr6:121474200-121483400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:121474400-121483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:121474400-121483400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:121474600-121485200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:121474600-121508600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:121474800-121484000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:121475000-121482400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:121475400-121483000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:121475600-121482400	Weak transcription	Placenta	Placenta
11	chr6:121475600-121483600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:121475600-121508600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:121475800-121483600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:121477000-121482200	Weak transcription	Fetal Heart	heart
15	chr6:121477400-121485000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:121478400-121482600	Weak transcription	Brain Angular Gyrus	brain
17	chr6:121478800-121484000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:121478800-121535400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:121479000-121482800	Weak transcription	Fetal Brain Male	brain
20	chr6:121479000-121505000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:121479200-121482200	Strong transcription	Dnd41	blood
22	chr6:121479200-121502600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:121479600-121482200	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:121479600-121483600	Weak transcription	K562	blood
25	chr6:121479600-121501400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:121480200-121482600	Weak transcription	Ovary	ovary
27	chr6:121480200-121483200	Weak transcription	Fetal Lung	lung
28	chr6:121480200-121502400	Weak transcription	Left Ventricle	heart
29	chr6:121480200-121504600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:121480200-121535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:121480400-121505400	Weak transcription	Adipose Nuclei	Adipose
32	chr6:121480600-121501000	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:121480600-121502200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:121480800-121482800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:121480800-121484000	Weak transcription	Liver	Liver
36	chr6:121480800-121498600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:121480800-121499200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr6:121480800-121535400	Weak transcription	Fetal Intestine Large	intestine
39	chr6:121481000-121483600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr6:121481000-121484000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:121481000-121502600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr6:121481000-121535400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:121481400-121483400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr6:121481400-121488400	Weak transcription	Primary B cells from cord blood	blood
45	chr6:121482000-121482200	Active TSS	Fetal Kidney	kidney
46	chr6:121482000-121483800	Strong transcription	Primary T cells from cord blood	blood

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