Variant report

Variant	rs11970539
Chromosome Location	chr6:12575317-12575318
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	chr6:12541568..12543424-chr6:12573453..12575885,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10948081	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970595	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17698983	0.82[AMR][1000 genomes]
rs2327566	0.80[AMR][1000 genomes]
rs2327567	0.82[AMR][1000 genomes]
rs2504888	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2504892	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2504897	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4526191	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4535543	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4623230	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55655151	0.82[AMR][1000 genomes]
rs55758472	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58288781	0.82[AMR][1000 genomes]
rs59222149	0.80[AMR][1000 genomes]
rs67172952	0.80[AMR][1000 genomes]
rs6927894	0.94[ASN][1000 genomes]
rs72833774	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7751296	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765505	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7770994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357416	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394959	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472034	0.94[ASN][1000 genomes]
rs9472108	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470801	chr6:12559239-12666093	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv462638	chr6:12569231-12651249	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv600991	chr6:12569231-12651249	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12569800-12577400	Weak transcription	Esophagus	oesophagus
2	chr6:12571000-12575600	Weak transcription	Fetal Brain Male	brain
3	chr6:12571600-12577200	Weak transcription	Fetal Kidney	kidney
4	chr6:12573200-12579200	Enhancers	NHDF-Ad	bronchial
5	chr6:12573400-12577200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:12573800-12576800	Enhancers	NHEK	skin
7	chr6:12573800-12577600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:12573800-12578800	Enhancers	HUVEC	blood vessel
9	chr6:12573800-12579400	Enhancers	HSMM	muscle
10	chr6:12573800-12586000	Weak transcription	Pancreas	Pancrea
11	chr6:12574000-12575600	Weak transcription	Fetal Intestine Large	intestine
12	chr6:12574000-12575800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:12574000-12576000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:12574000-12576200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:12574000-12576800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:12574000-12576800	Weak transcription	Osteobl	bone
17	chr6:12574000-12577200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:12574000-12577400	Weak transcription	Placenta	Placenta
19	chr6:12574000-12577800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:12574000-12578000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:12574000-12578200	Enhancers	HSMMtube	muscle
22	chr6:12574000-12579400	Enhancers	A549	lung
23	chr6:12574000-12594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:12574200-12576400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:12574200-12576600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:12574200-12576800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:12574200-12576800	Weak transcription	NH-A	brain
28	chr6:12574400-12576200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:12574600-12576000	Weak transcription	HMEC	breast
30	chr6:12574600-12577000	Weak transcription	NHLF	lung
31	chr6:12575000-12576800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:12575200-12575600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:12575200-12577000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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