Variant report

Variant	rs7134738
Chromosome Location	chr12:26358170-26358171
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	chr12:26357801..26359384-chr12:26374632..26376428,2	K562	blood:
2	chr12:26351932..26353436-chr12:26357817..26360004,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12582448	0.85[ASN][1000 genomes]
rs12810386	0.83[ASN][1000 genomes]
rs12818201	0.83[ASN][1000 genomes]
rs1480036	0.83[CHD][hapmap]
rs16930329	0.90[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs16930331	0.88[CHD][hapmap]
rs17380837	0.89[JPT][hapmap]
rs34004743	0.93[ASN][1000 genomes]
rs34218011	0.83[ASN][1000 genomes]
rs34583201	0.85[ASN][1000 genomes]
rs35722594	0.83[ASN][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	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26352200-26365200	Weak transcription	HSMMtube	muscle
2	chr12:26355400-26359200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:26356600-26358200	Flanking Active TSS	Brain Anterior Caudate	brain
4	chr12:26356600-26358600	Enhancers	Fetal Muscle Leg	muscle
5	chr12:26356800-26359000	Enhancers	Fetal Heart	heart
6	chr12:26357000-26359200	Enhancers	Psoas Muscle	Psoas
7	chr12:26357200-26358200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr12:26357200-26358600	Enhancers	Fetal Lung	lung
9	chr12:26357200-26358800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr12:26357200-26359000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:26357400-26358600	Enhancers	Fetal Stomach	stomach
12	chr12:26357400-26358600	Enhancers	Rectal Smooth Muscle	rectum
13	chr12:26357400-26359200	Enhancers	Left Ventricle	heart
14	chr12:26357400-26360200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:26357600-26358200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:26357600-26358400	Weak transcription	Right Ventricle	heart
17	chr12:26357600-26358600	Enhancers	Adipose Nuclei	Adipose
18	chr12:26357600-26358800	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr12:26357600-26359600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr12:26357600-26359800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:26357800-26358200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:26357800-26358200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:26357800-26358200	Active TSS	Aorta	Aorta
24	chr12:26357800-26358200	Active TSS	Brain Angular Gyrus	brain
25	chr12:26357800-26358200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:26357800-26358400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:26357800-26358600	Enhancers	Small Intestine	intestine
28	chr12:26357800-26359400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:26357800-26365600	Weak transcription	Ovary	ovary
30	chr12:26358000-26358200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:26358000-26358200	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr12:26358000-26358400	Enhancers	Brain Substantia Nigra	brain
33	chr12:26358000-26358400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr12:26358000-26358400	Enhancers	Osteobl	bone
35	chr12:26358000-26358600	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr12:26358000-26358600	Enhancers	Fetal Intestine Small	intestine
37	chr12:26358000-26358600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr12:26358000-26358600	Enhancers	Right Atrium	heart
39	chr12:26358000-26358600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr12:26358000-26358600	Enhancers	Stomach Mucosa	stomach
41	chr12:26358000-26358800	Enhancers	Brain Germinal Matrix	brain
42	chr12:26358000-26358800	Enhancers	Colon Smooth Muscle	Colon
43	chr12:26358000-26359000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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