Variant report

Variant	rs4968842
Chromosome Location	chr17:67143971-67143972
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	chr17:67140722..67142523-chr17:67142695..67144218,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1011789	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1024598	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11077396	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11077403	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11077408	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11077414	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1118164	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11654430	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655199	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11655912	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11658738	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11659091	0.81[ASN][1000 genomes]
rs11659119	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11868299	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12451663	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12940557	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12941264	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12943387	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12948396	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12950143	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12951091	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12952984	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1558167	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1974578	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215149	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2364990	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2364991	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2364992	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4358004	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968841	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4968850	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62082734	0.92[ASN][1000 genomes]
rs7208382	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7212188	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs721813	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221183	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7223736	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8064583	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8065924	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8066629	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8067584	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8069791	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8070459	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8071249	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8071373	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8071611	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8073982	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8075377	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8079681	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8080065	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8080693	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9282552	0.81[ASN][1000 genomes]
rs9709278	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981453	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9894644	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9909216	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9910035	0.93[EUR][1000 genomes];0.87[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	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	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv575930	chr17:67120025-67212031	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
5	nsv960211	chr17:67138815-67144978	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67114600-67162800	Weak transcription	Brain Angular Gyrus	brain
2	chr17:67124800-67150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:67127000-67150600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:67130600-67146200	Weak transcription	Lung	lung
5	chr17:67132000-67151600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr17:67133800-67145600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr17:67134600-67145000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr17:67138000-67154000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr17:67138200-67150600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr17:67138200-67151200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr17:67138200-67151600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:67138200-67152200	Weak transcription	Fetal Muscle Leg	muscle
13	chr17:67138600-67147800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr17:67138600-67155400	Weak transcription	Brain Anterior Caudate	brain
15	chr17:67138800-67152000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr17:67138800-67162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:67138800-67182000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr17:67140200-67154000	Weak transcription	Fetal Lung	lung
19	chr17:67141400-67144800	Weak transcription	Liver	Liver
20	chr17:67141600-67155400	Weak transcription	Colon Smooth Muscle	Colon
21	chr17:67141800-67144200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:67141800-67171800	Weak transcription	GM12878-XiMat	blood
23	chr17:67142000-67148800	Weak transcription	NHDF-Ad	bronchial
24	chr17:67142200-67152400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:67142400-67144800	Weak transcription	Thymus	Thymus
26	chr17:67142400-67151000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:67143400-67144000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr17:67143400-67144000	Genic enhancers	Adipose Nuclei	Adipose
29	chr17:67143400-67144000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr17:67143400-67144000	Strong transcription	Fetal Intestine Large	intestine
31	chr17:67143400-67144000	ZNF genes & repeats	Gastric	stomach
32	chr17:67143400-67144000	Enhancers	Psoas Muscle	Psoas
33	chr17:67143400-67144200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr17:67143400-67144400	Strong transcription	Pancreas	Pancrea
35	chr17:67143400-67146000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr17:67143600-67144000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:67143600-67144000	Strong transcription	Ovary	ovary
38	chr17:67143600-67144000	Enhancers	Spleen	Spleen
39	chr17:67143600-67146000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:67143800-67144000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:67143800-67144000	Strong transcription	Left Ventricle	heart
42	chr17:67143800-67144000	Enhancers	Osteobl	bone
43	chr17:67143800-67154200	Weak transcription	Right Ventricle	heart

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