Variant report

Variant	rs67993208
Chromosome Location	chr12:64253096-64253097
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	chr12:64238158..64239661-chr12:64250605..64253293,2	MCF-7	breast:
2	chr12:64243148..64249002-chr12:64249405..64253780,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196935	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11175184	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11175185	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175188	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175189	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175197	0.96[ASN][1000 genomes]
rs11833808	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11835034	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12228199	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12229790	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17099866	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2335884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35143986	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4072758	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55642517	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55655348	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55760535	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55907605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55930806	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56028204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56080061	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56264182	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58424013	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59063572	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60031756	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6581509	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6581510	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66856673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67401817	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67684483	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67830727	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67880496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67892056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68188132	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7136130	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7294327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301437	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7302672	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7304340	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7305893	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7307108	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7308850	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7310327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7310329	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7310575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311611	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73313479	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73315321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73315365	0.98[ASN][1000 genomes]
rs7953208	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	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
4	esv1810729	chr12:64234926-64268005	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
5	esv1797043	chr12:64237504-64256568	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
6	esv1833454	chr12:64237504-64264837	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	esv1803717	chr12:64250221-64261249	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64240800-64256000	Weak transcription	Small Intestine	intestine
2	chr12:64241000-64255600	Weak transcription	Left Ventricle	heart
3	chr12:64241000-64256000	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:64241000-64256000	Weak transcription	HSMM	muscle
5	chr12:64241000-64257200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:64241000-64261200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:64241000-64268800	Weak transcription	Lung	lung
8	chr12:64241000-64278800	Weak transcription	Fetal Stomach	stomach
9	chr12:64243400-64263000	Weak transcription	NHEK	skin
10	chr12:64243600-64256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:64244000-64256000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:64244000-64263600	Weak transcription	Fetal Lung	lung
13	chr12:64244400-64256000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:64244800-64255800	Weak transcription	Brain Anterior Caudate	brain
15	chr12:64246200-64254600	Weak transcription	Pancreas	Pancrea
16	chr12:64246200-64286400	Weak transcription	Fetal Brain Female	brain
17	chr12:64246400-64253400	Weak transcription	Brain Germinal Matrix	brain
18	chr12:64246400-64256000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:64246400-64256200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:64247600-64255200	Weak transcription	Ovary	ovary
21	chr12:64247800-64257400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:64247800-64268200	Weak transcription	Fetal Brain Male	brain
23	chr12:64248000-64256000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:64248000-64256200	Weak transcription	Fetal Kidney	kidney
25	chr12:64248200-64253800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:64248800-64255200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:64249200-64256200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:64250200-64287200	Weak transcription	Aorta	Aorta
29	chr12:64250800-64254400	Weak transcription	NHDF-Ad	bronchial
30	chr12:64250800-64256000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:64251000-64255200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:64251600-64254600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:64251800-64255400	Weak transcription	HMEC	breast
34	chr12:64251800-64256000	Weak transcription	NHLF	lung
35	chr12:64252000-64255200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:64252000-64255200	Weak transcription	Osteobl	bone
37	chr12:64252200-64253200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:64252200-64254400	Weak transcription	Stomach Mucosa	stomach
39	chr12:64252200-64254400	Weak transcription	HepG2	liver
40	chr12:64252400-64254200	Weak transcription	Fetal Intestine Small	intestine
41	chr12:64252400-64254200	Weak transcription	Hela-S3	cervix
42	chr12:64252400-64256000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:64252600-64253200	Enhancers	A549	lung
44	chr12:64252600-64255200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:64252600-64256000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:64252600-64256200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:64252800-64253200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:64252800-64255200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:64253000-64253200	Enhancers	Fetal Intestine Large	intestine

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