Variant report

Variant	rs12941264
Chromosome Location	chr17:67215712-67215713
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	chr17:67215225..67217068-chr17:67219332..67222293,2	K562	blood:
2	chr17:67210361..67212344-chr17:67215371..67216914,2	K562	blood:

Variant related genes	Relation type
ENSG00000154263	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1011789	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1024598	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11077396	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11077403	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11077408	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11077414	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1118164	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11654430	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11655199	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11655912	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11658738	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11659119	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11868299	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12451663	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12940557	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12943387	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12948396	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12950143	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12951091	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12952984	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1558167	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1974578	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2215149	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2364990	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2364991	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2364992	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4358004	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4968841	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4968842	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4968850	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7208382	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7212188	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs721813	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7221183	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7223736	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8064583	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8065924	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8066629	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8067584	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8069791	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8070459	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8071249	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8071373	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8071611	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8073982	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8075377	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8079681	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8080065	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8080693	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9709278	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs981453	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9894644	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9909216	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9910035	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv457888	chr17:67149973-67226643	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv575931	chr17:67149973-67226643	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv575933	chr17:67153386-67215712	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv516799	chr17:67210267-67231581	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
9	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67144000-67236000	Weak transcription	Psoas Muscle	Psoas
2	chr17:67160600-67220000	Weak transcription	Fetal Lung	lung
3	chr17:67173400-67230000	Weak transcription	Pancreas	Pancrea
4	chr17:67189800-67221400	Weak transcription	Right Ventricle	heart
5	chr17:67192600-67219200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:67207600-67247800	Weak transcription	Left Ventricle	heart
7	chr17:67209600-67216800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:67209800-67217800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr17:67209800-67223200	Weak transcription	Fetal Muscle Leg	muscle
10	chr17:67210000-67218200	Weak transcription	Fetal Intestine Small	intestine
11	chr17:67210000-67219800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr17:67210400-67219800	Weak transcription	GM12878-XiMat	blood
13	chr17:67212200-67216800	Weak transcription	Small Intestine	intestine
14	chr17:67213400-67219200	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr17:67213800-67220000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:67213800-67230400	Weak transcription	Brain Angular Gyrus	brain
17	chr17:67214000-67216800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr17:67214800-67217000	Strong transcription	Liver	Liver
19	chr17:67214800-67218600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr17:67214800-67218600	Strong transcription	Adipose Nuclei	Adipose
21	chr17:67215000-67215800	Enhancers	HMEC	breast
22	chr17:67215000-67218600	Strong transcription	Ovary	ovary
23	chr17:67215000-67220000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr17:67215200-67215800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:67215200-67217200	Enhancers	HepG2	liver
26	chr17:67215200-67219000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:67215400-67215800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:67215400-67215800	Enhancers	Duodenum Mucosa	Duodenum
29	chr17:67215600-67219000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr17:67215600-67219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:67215600-67219800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:67215600-67220000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr17:67215600-67222400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr17:67215600-67222600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr17:67215600-67222600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr17:67215600-67239200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr17:67215600-67249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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