Variant report

Variant	rs61933088
Chromosome Location	chr12:64295144-64295145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64289718..64291859-chr12:64293850..64295447,2	MCF-7	breast:
2	chr12:64293610..64297579-chr12:64304786..64312543,7	MCF-7	breast:
3	chr12:64291093..64292836-chr12:64294239..64297130,2	MCF-7	breast:
4	chr12:64283862..64288194-chr12:64291016..64295287,5	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11175203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251126	1.00[ASN][1000 genomes]
rs2954910	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55965024	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56206744	1.00[ASN][1000 genomes]
rs61933087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61935958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313480	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64277200-64299400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:64283200-64298200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:64283200-64298600	Weak transcription	NHEK	skin
4	chr12:64283200-64299000	Weak transcription	HMEC	breast
5	chr12:64283200-64303000	Weak transcription	NHLF	lung
6	chr12:64283200-64312200	Weak transcription	Left Ventricle	heart
7	chr12:64284000-64296200	Weak transcription	Brain Angular Gyrus	brain
8	chr12:64284200-64296400	Weak transcription	HSMM	muscle
9	chr12:64284200-64309000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:64285400-64306000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:64287200-64307800	Weak transcription	NHDF-Ad	bronchial
12	chr12:64287600-64296200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:64291200-64296400	Enhancers	Liver	Liver
14	chr12:64291800-64295600	Enhancers	Brain Anterior Caudate	brain
15	chr12:64292000-64297000	Weak transcription	Ovary	ovary
16	chr12:64292200-64295200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:64292200-64296200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:64292200-64296200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:64292200-64298800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:64292200-64298800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:64292400-64296200	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:64293000-64302800	Weak transcription	Fetal Brain Male	brain
23	chr12:64293400-64299000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:64294200-64295400	Enhancers	Pancreas	Pancrea
25	chr12:64294400-64295400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:64294400-64295400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:64294400-64295400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr12:64294400-64295400	Enhancers	HepG2	liver
29	chr12:64294400-64295600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:64294400-64295600	Enhancers	Stomach Mucosa	stomach
31	chr12:64294400-64295800	Enhancers	Hela-S3	cervix
32	chr12:64294400-64296400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:64294600-64295200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:64294600-64295200	Enhancers	Duodenum Mucosa	Duodenum
35	chr12:64294800-64295200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:64294800-64295400	Enhancers	Stomach Smooth Muscle	stomach
37	chr12:64294800-64295800	Flanking Active TSS	A549	lung
38	chr12:64295000-64295200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr12:64295000-64295200	Enhancers	Fetal Heart	heart
40	chr12:64295000-64295200	Enhancers	HUVEC	blood vessel
41	chr12:64295000-64295400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:64295000-64295400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:64295000-64295600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:64295000-64296400	Weak transcription	Brain Substantia Nigra	brain

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