Variant report

Variant	rs74110022
Chromosome Location	chr12:76247640-76247641
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	chr12:76242367..76248604-chr12:76422405..76426784,7	MCF-7	breast:
2	chr12:76244731..76246265-chr12:76247627..76249757,2	K562	blood:

Variant related genes	Relation type
ENSG00000257453	Chromatin interaction
ENSG00000139289	Chromatin interaction
ENSG00000257839	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11832325	0.94[AFR][1000 genomes]
rs17115815	1.00[AFR][1000 genomes]
rs34133638	0.94[AFR][1000 genomes]
rs56301931	0.81[AFR][1000 genomes]
rs60082742	0.81[AFR][1000 genomes]
rs74110015	0.94[AFR][1000 genomes]
rs74110018	1.00[AFR][1000 genomes]
rs74110020	0.94[AFR][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	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv519546	chr12:76247543-76255406	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76241600-76248800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:76241600-76251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:76242000-76249000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:76242200-76247800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:76243400-76253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:76244000-76249000	Enhancers	HMEC	breast
8	chr12:76244000-76249200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:76244600-76249200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:76245000-76248400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:76245000-76248800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:76245000-76252200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:76245200-76248400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:76245200-76256400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:76245800-76247800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:76245800-76247800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:76246000-76248400	Weak transcription	HSMM	muscle
18	chr12:76246000-76255400	Weak transcription	A549	lung
19	chr12:76246200-76248400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:76246400-76247800	Enhancers	Brain Germinal Matrix	brain
21	chr12:76246400-76249800	Enhancers	NHEK	skin
22	chr12:76246600-76247800	Weak transcription	NHLF	lung
23	chr12:76246600-76248400	Weak transcription	Osteobl	bone
24	chr12:76246600-76248600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:76246800-76247800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:76246800-76248400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:76247000-76248000	Enhancers	Fetal Lung	lung
28	chr12:76247000-76248800	Enhancers	Fetal Kidney	kidney
29	chr12:76247000-76248800	Enhancers	HSMMtube	muscle
30	chr12:76247200-76247800	Enhancers	Primary hematopoietic stem cells	blood
31	chr12:76247200-76247800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:76247200-76247800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:76247200-76248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:76247200-76249200	Enhancers	Fetal Muscle Leg	muscle
35	chr12:76247400-76247800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:76247400-76247800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:76247400-76247800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:76247400-76247800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:76247400-76247800	Enhancers	Aorta	Aorta
40	chr12:76247400-76247800	Enhancers	Ovary	ovary
41	chr12:76247400-76248000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr12:76247400-76248400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:76247400-76248600	Weak transcription	Adipose Nuclei	Adipose
44	chr12:76247600-76247800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr12:76247600-76247800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:76247600-76247800	Enhancers	Esophagus	oesophagus
47	chr12:76247600-76247800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr12:76247600-76248000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr12:76247600-76248400	Weak transcription	NHDF-Ad	bronchial
50	chr12:76247600-76248600	Enhancers	Placenta	Placenta

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