Variant report

Variant	rs12192004
Chromosome Location	chr6:74157151-74157152
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	chr6:74155594..74157506-chr6:74160600..74162735,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164430	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12191652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198919	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200686	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60070262	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6453674	0.86[ASN][1000 genomes]
rs6453675	0.86[ASN][1000 genomes]
rs6909621	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7761170	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763873	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7768980	0.84[ASN][1000 genomes]
rs903516	0.86[ASN][1000 genomes]
rs903517	0.86[ASN][1000 genomes]
rs9442913	0.84[ASN][1000 genomes]
rs9442914	0.82[ASN][1000 genomes]
rs9446909	0.86[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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74123200-74160200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:74125400-74160800	Weak transcription	Gastric	stomach
3	chr6:74129000-74160600	Weak transcription	HSMMtube	muscle
4	chr6:74129200-74160200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:74129800-74160200	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:74129800-74160200	Weak transcription	NHLF	lung
7	chr6:74130000-74160600	Weak transcription	NHEK	skin
8	chr6:74130200-74159400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:74130200-74160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:74130400-74159400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:74130400-74160000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:74130600-74160400	Weak transcription	Esophagus	oesophagus
13	chr6:74130600-74160800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:74131800-74160200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:74132200-74160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:74132200-74160400	Weak transcription	Left Ventricle	heart
17	chr6:74132200-74160800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:74132800-74158400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:74133200-74160200	Weak transcription	Stomach Mucosa	stomach
20	chr6:74133400-74159400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:74133600-74158600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:74135200-74159400	Weak transcription	Colonic Mucosa	Colon
23	chr6:74135200-74160200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:74136000-74158200	Weak transcription	Small Intestine	intestine
25	chr6:74136400-74159600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:74138600-74159600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:74142400-74160800	Weak transcription	Liver	Liver
28	chr6:74144200-74159200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:74144400-74160200	Weak transcription	Placenta	Placenta
30	chr6:74145000-74159400	Weak transcription	Primary T cells from cord blood	blood
31	chr6:74145000-74160800	Weak transcription	Pancreas	Pancrea
32	chr6:74146800-74160600	Weak transcription	Aorta	Aorta
33	chr6:74148000-74160800	Weak transcription	NH-A	brain
34	chr6:74148200-74159400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:74149800-74160600	Weak transcription	Ovary	ovary
36	chr6:74150200-74159400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:74150200-74160400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr6:74150200-74160600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:74150200-74160800	Weak transcription	Fetal Intestine Large	intestine
40	chr6:74151200-74160400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:74151400-74159600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:74151600-74159800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:74151600-74160200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:74151600-74160400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:74151800-74159400	Weak transcription	Lung	lung
46	chr6:74152000-74159000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:74152200-74159400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:74154800-74159200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:74154800-74159400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:74154800-74159800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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