Variant report

Variant	rs9348970
Chromosome Location	chr6:35153565-35153566
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35127079..35138793-chr6:35145525..35157743,32	MCF-7	breast:
2	chr6:35150577..35155004-chr6:35155292..35158233,5	MCF-7	breast:
3	chr6:35113948..35118974-chr6:35150125..35153891,4	MCF-7	breast:
4	chr6:35152047..35154652-chr6:35168732..35171108,2	MCF-7	breast:
5	chr6:35148681..35155694-chr6:35156262..35164857,12	MCF-7	breast:
6	chr6:35146861..35148927-chr6:35151720..35154561,2	K562	blood:

Variant related genes	Relation type
ENSG00000124678	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10080361	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs1013907	0.81[ASN][1000 genomes]
rs10755687	0.83[CEU][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10807150	0.89[CEU][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10947540	0.89[CEU][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10947542	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1108709	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1194	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs12211943	0.81[ASN][1000 genomes]
rs13214290	0.89[CEU][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1557567	0.89[CEU][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1557568	0.89[CEU][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1590381	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1888822	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs1888823	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs1888824	0.89[CEU][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1888825	0.89[CEU][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1894650	0.94[CEU][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1894651	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs1929847	0.88[CEU][hapmap]
rs1929849	0.88[CEU][hapmap];0.80[ASN][1000 genomes]
rs1987673	0.89[CEU][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2006184	0.82[EUR][1000 genomes]
rs2018373	0.82[EUR][1000 genomes]
rs2071920	0.89[CEU][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2267657	0.89[CEU][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2267662	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs2267663	0.89[CEU][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2284195	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2395614	0.89[CEU][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34156110	0.85[EUR][1000 genomes]
rs3777742	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3777743	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3800385	0.89[CEU][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3800392	0.88[CEU][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3800393	0.89[CEU][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800396	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3800398	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3800399	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3800401	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711409	0.81[ASN][1000 genomes]
rs4711411	0.89[CEU][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4711414	0.80[EUR][1000 genomes]
rs4713841	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4713845	0.89[CEU][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4713850	0.81[ASN][1000 genomes]
rs6457812	0.89[CEU][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68164647	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6902523	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs6906987	0.83[ASN][1000 genomes]
rs6907364	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6907795	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6913037	0.89[CEU][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6913475	0.83[ASN][1000 genomes]
rs6913941	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6916364	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6920432	0.83[ASN][1000 genomes]
rs6927730	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6928769	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6938946	0.85[EUR][1000 genomes]
rs6940375	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6941471	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72909061	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7757316	0.83[ASN][1000 genomes]
rs7763946	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7769906	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7772212	0.80[EUR][1000 genomes]
rs7772302	0.82[ASN][1000 genomes]
rs8205	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs914547	0.89[CEU][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9296144	0.88[CEU][hapmap]
rs9366882	0.89[CEU][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9366883	0.89[CEU][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9380497	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380498	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9380500	0.94[CEU][hapmap]
rs9380501	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs9394283	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9394288	0.89[CEU][hapmap]
rs9394289	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9462065	0.89[CEU][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9469958	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9469964	0.89[CEU][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9469972	0.89[CEU][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9469975	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469982	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9469997	0.81[ASN][1000 genomes]
rs9469998	0.83[ASN][1000 genomes]
rs965272	0.89[CEU][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs968828	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs975496	0.88[CEU][hapmap]
rs991145	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3428128	chr6:35150524-35225843	Bivalent Enhancer Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9348970	DEF6	cis	Whole Blood	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35146800-35154400	Enhancers	Fetal Heart	heart
2	chr6:35149800-35154200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:35149800-35154400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:35149800-35158000	Weak transcription	Aorta	Aorta
5	chr6:35150200-35154000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:35150200-35154200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:35150200-35156600	Weak transcription	Esophagus	oesophagus
8	chr6:35150600-35154200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:35150800-35154000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:35151000-35153600	Enhancers	K562	blood
11	chr6:35151000-35154200	Enhancers	Osteobl	bone
12	chr6:35151200-35154200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:35151400-35154000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:35151800-35154000	Enhancers	HepG2	liver
15	chr6:35151800-35159600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:35152000-35154000	Enhancers	Left Ventricle	heart
17	chr6:35152200-35154200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:35152200-35154400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:35152400-35153800	Enhancers	Liver	Liver
20	chr6:35152400-35154000	Enhancers	Fetal Intestine Large	intestine
21	chr6:35152400-35154000	Enhancers	Lung	lung
22	chr6:35152400-35154200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:35152400-35154200	Enhancers	NH-A	brain
24	chr6:35152400-35154200	Enhancers	NHDF-Ad	bronchial
25	chr6:35152600-35153600	Flanking Active TSS	Hela-S3	cervix
26	chr6:35152600-35154000	Enhancers	Stomach Mucosa	stomach
27	chr6:35152600-35154000	Enhancers	NHLF	lung
28	chr6:35152600-35154200	Enhancers	Fetal Intestine Small	intestine
29	chr6:35152800-35154000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr6:35152800-35154200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:35153000-35153600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:35153000-35153800	Enhancers	HSMM	muscle
33	chr6:35153000-35154200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:35153000-35154400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:35153200-35154000	Enhancers	HMEC	breast
36	chr6:35153200-35154400	Enhancers	A549	lung
37	chr6:35153400-35154000	Enhancers	Right Atrium	heart
38	chr6:35153400-35154000	Enhancers	Spleen	Spleen

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