Variant report

Variant	rs60465299
Chromosome Location	chr12:68159834-68159835
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	chr12:68150035..68153176-chr12:68155838..68160003,3	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs58169429	1.00[AMR][1000 genomes]
rs61143607	1.00[AMR][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	esv3430007	chr12:67947726-68241938	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68152400-68160200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:68154800-68160000	Weak transcription	Stomach Mucosa	stomach
3	chr12:68156800-68166000	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:68158600-68160600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:68158800-68160800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:68158800-68160800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:68159000-68160400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:68159000-68160600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:68159000-68160600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:68159000-68160600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:68159200-68160200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:68159200-68160600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:68159200-68160600	Enhancers	HMEC	breast
14	chr12:68159200-68160800	Enhancers	NHDF-Ad	bronchial
15	chr12:68159200-68166000	Weak transcription	Left Ventricle	heart
16	chr12:68159200-68166200	Weak transcription	Right Ventricle	heart
17	chr12:68159400-68160400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:68159400-68160400	Enhancers	Colon Smooth Muscle	Colon
19	chr12:68159400-68160600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:68159400-68160800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:68159400-68166000	Weak transcription	Fetal Heart	heart
22	chr12:68159600-68160000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:68159600-68160000	Enhancers	Fetal Intestine Large	intestine
24	chr12:68159600-68160000	Weak transcription	Pancreas	Pancrea
25	chr12:68159600-68160600	Enhancers	Fetal Intestine Small	intestine
26	chr12:68159600-68160600	Enhancers	NHEK	skin
27	chr12:68159800-68160200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:68159800-68160200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr12:68159800-68160600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:68159800-68160600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:68159800-68160600	Enhancers	NH-A	brain
32	chr12:68159800-68160800	Enhancers	Hela-S3	cervix
33	chr12:68159800-68160800	Enhancers	Osteobl	bone

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