Variant report

Variant	rs6907795
Chromosome Location	chr6:35160639-35160640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35147873..35150223-chr6:35160298..35162374,2	MCF-7	breast:
2	chr6:35159595..35161669-chr6:35171600..35173649,2	K562	blood:
3	chr6:35157511..35159757-chr6:35160633..35163459,2	K562	blood:
4	chr6:35158359..35161056-chr6:35178147..35180648,2	MCF-7	breast:
5	chr6:35148681..35155694-chr6:35156262..35164857,12	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10080361	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1013907	0.92[ASN][1000 genomes]
rs10755687	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10807150	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10947540	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10947542	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1108709	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1194	0.90[ASN][1000 genomes]
rs13214290	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1557567	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1557568	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1590381	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1888822	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1888823	0.90[ASN][1000 genomes]
rs1888824	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1888825	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1894650	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1894651	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1894652	0.85[ASN][1000 genomes]
rs1894653	0.85[ASN][1000 genomes]
rs1929847	0.90[ASN][1000 genomes]
rs1929849	0.91[ASN][1000 genomes]
rs1987673	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2006184	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2018373	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2071920	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2183834	0.86[ASN][1000 genomes]
rs2267657	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2267658	0.89[ASN][1000 genomes]
rs2267660	0.86[ASN][1000 genomes]
rs2267661	0.86[ASN][1000 genomes]
rs2267662	0.90[ASN][1000 genomes]
rs2267663	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284195	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2395614	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34156110	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3777742	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3777743	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3798342	0.86[ASN][1000 genomes]
rs3800382	0.86[ASN][1000 genomes]
rs3800383	0.87[ASN][1000 genomes]
rs3800385	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3800386	0.87[ASN][1000 genomes]
rs3800387	0.87[ASN][1000 genomes]
rs3800388	0.87[ASN][1000 genomes]
rs3800392	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3800393	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3800396	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800398	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800399	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3800401	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4711409	0.92[ASN][1000 genomes]
rs4711411	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4711413	0.85[ASN][1000 genomes]
rs4711414	0.90[ASN][1000 genomes]
rs4713841	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713845	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4713848	0.84[ASN][1000 genomes]
rs58925593	0.86[ASN][1000 genomes]
rs62403575	0.90[ASN][1000 genomes]
rs6457812	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68164647	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6902523	0.90[ASN][1000 genomes]
rs6907324	0.90[ASN][1000 genomes]
rs6907364	0.89[EUR][1000 genomes]
rs6907573	0.86[ASN][1000 genomes]
rs6913037	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6913941	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6916364	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6920747	0.90[ASN][1000 genomes]
rs6927730	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6928769	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6938946	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6940375	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6941471	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72909061	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7763946	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7769906	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7772212	0.90[ASN][1000 genomes]
rs8205	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs914547	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9296144	0.89[ASN][1000 genomes]
rs9348970	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9366882	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9366883	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9368854	0.87[ASN][1000 genomes]
rs9368857	0.86[ASN][1000 genomes]
rs9380497	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9380498	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9380501	0.90[ASN][1000 genomes]
rs9380502	0.81[ASN][1000 genomes]
rs9394283	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394289	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9462065	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9469958	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9469964	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9469972	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9469975	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9469979	0.89[ASN][1000 genomes]
rs9469982	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs965272	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs968828	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs975496	0.90[ASN][1000 genomes]
rs991145	0.89[ASN][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
rs6907795	DEF6	cis	Whole Blood	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35154000-35169800	Weak transcription	Right Atrium	heart
2	chr6:35154200-35163400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:35154400-35169200	Weak transcription	Fetal Heart	heart
4	chr6:35158600-35162000	Weak transcription	Osteobl	bone
5	chr6:35158600-35162200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:35158600-35167200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:35159400-35164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:35159600-35161600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:35159600-35161600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:35159600-35162000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:35159600-35162200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:35159800-35163200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:35160000-35160800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr6:35160000-35161000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:35160000-35161000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:35160000-35161400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:35160000-35162600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:35160200-35160800	Enhancers	Brain Substantia Nigra	brain
19	chr6:35160200-35161000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:35160200-35161400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:35160200-35161400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:35160400-35160800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:35160400-35160800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:35160400-35161400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:35160400-35164800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:35160600-35161000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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