Variant report

Variant	rs1275614
Chromosome Location	chr12:76244897-76244898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76242367..76248604-chr12:76422405..76426784,7	MCF-7	breast:
2	chr12:76244731..76246265-chr12:76247627..76249757,2	K562	blood:
3	chr12:76244859..76247093-chr12:76267194..76270190,2	MCF-7	breast:
4	chr12:76243477..76245855-chr12:76249457..76251726,2	K562	blood:

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1275556	0.81[EUR][1000 genomes]
rs1275565	0.98[EUR][1000 genomes]
rs1275612	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275613	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275617	0.86[EUR][1000 genomes]
rs1275619	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290032	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290033	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1291266	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565766	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178484	0.86[EUR][1000 genomes]
rs2641449	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6582306	0.86[EUR][1000 genomes]
rs7309074	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76240400-76247400	Weak transcription	Aorta	Aorta
3	chr12:76241600-76246000	Enhancers	Brain Germinal Matrix	brain
4	chr12:76241600-76248800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:76241600-76251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:76242000-76245400	Enhancers	NHLF	lung
7	chr12:76242000-76246600	Enhancers	Osteobl	bone
8	chr12:76242000-76247600	Enhancers	NHDF-Ad	bronchial
9	chr12:76242000-76249000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:76242200-76245200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:76242200-76245800	Enhancers	NHEK	skin
12	chr12:76242200-76247800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:76243200-76245800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:76243400-76245200	Enhancers	Fetal Lung	lung
15	chr12:76243400-76253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:76243800-76245000	Enhancers	Small Intestine	intestine
17	chr12:76243800-76246200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:76243800-76247400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:76244000-76245200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:76244000-76245200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:76244000-76245400	Enhancers	Hela-S3	cervix
22	chr12:76244000-76245800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:76244000-76249000	Enhancers	HMEC	breast
24	chr12:76244000-76249200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:76244200-76245000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:76244200-76245000	Enhancers	Fetal Muscle Leg	muscle
27	chr12:76244200-76245000	Enhancers	Right Ventricle	heart
28	chr12:76244200-76245200	Enhancers	Fetal Stomach	stomach
29	chr12:76244200-76246400	Enhancers	NH-A	brain
30	chr12:76244200-76246600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:76244200-76246800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:76244400-76245000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr12:76244400-76245000	Enhancers	HSMMtube	muscle
34	chr12:76244400-76245000	Enhancers	HUVEC	blood vessel
35	chr12:76244400-76245200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:76244600-76245000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:76244600-76245000	Genic enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:76244600-76245000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:76244600-76245000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr12:76244600-76245000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr12:76244600-76245000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:76244600-76245000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:76244600-76245000	Enhancers	Esophagus	oesophagus
44	chr12:76244600-76245000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:76244600-76245000	Enhancers	Ovary	ovary
46	chr12:76244600-76245000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr12:76244600-76245200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:76244600-76245200	Enhancers	Fetal Kidney	kidney
49	chr12:76244600-76245200	Enhancers	Psoas Muscle	Psoas
50	chr12:76244600-76245200	Enhancers	Rectal Mucosa Donor 31	rectum

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