Variant report

Variant	rs7135114
Chromosome Location	chr12:59306389-59306390
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	chr12:59305986..59308290-chr12:59311470..59314122,2	K562	blood:

Variant related genes	Relation type
ENSG00000139263	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs2291799	0.81[JPT][hapmap]
rs2291800	0.81[CHD][hapmap];0.88[JPT][hapmap]

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	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7135114	MBD6	cis	cerebellum	SCAN
rs7135114	PTPN4	cis	Brain Pons	GTEx
rs7135114	RBMS2	cis	parietal	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59266000-59311000	Weak transcription	Fetal Thymus	thymus
2	chr12:59279000-59310800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:59279200-59309400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:59290600-59307200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:59290600-59311000	Weak transcription	Right Ventricle	heart
6	chr12:59292400-59309200	Weak transcription	Fetal Heart	heart
7	chr12:59292400-59310600	Weak transcription	Small Intestine	intestine
8	chr12:59297800-59306400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:59297800-59307400	Strong transcription	Fetal Intestine Large	intestine
10	chr12:59297800-59307600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr12:59297800-59307600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:59297800-59308000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:59297800-59308000	Strong transcription	NHDF-Ad	bronchial
14	chr12:59298200-59306800	Weak transcription	Fetal Brain Male	brain
15	chr12:59298600-59307800	Strong transcription	NHLF	lung
16	chr12:59299400-59306400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:59300200-59306400	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr12:59300400-59307600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:59300600-59306800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:59300800-59307600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr12:59301200-59309400	Weak transcription	GM12878-XiMat	blood
22	chr12:59301400-59306400	Strong transcription	Adipose Nuclei	Adipose
23	chr12:59301400-59306400	Weak transcription	Hela-S3	cervix
24	chr12:59301600-59306400	Strong transcription	HUVEC	blood vessel
25	chr12:59301800-59306400	Strong transcription	NH-A	brain
26	chr12:59302000-59306400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:59302000-59313000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:59302200-59306400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:59302200-59306400	Weak transcription	HSMMtube	muscle
30	chr12:59302200-59307200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:59302200-59309200	Weak transcription	Ovary	ovary
32	chr12:59302400-59306400	Weak transcription	Left Ventricle	heart
33	chr12:59302400-59308200	Weak transcription	Aorta	Aorta
34	chr12:59302400-59309000	Weak transcription	A549	lung
35	chr12:59302800-59309400	Weak transcription	Pancreas	Pancrea
36	chr12:59302800-59309600	Weak transcription	Colonic Mucosa	Colon
37	chr12:59303000-59307800	Strong transcription	Fetal Muscle Leg	muscle
38	chr12:59303200-59313400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:59303400-59308000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:59303600-59306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:59303800-59306800	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:59303800-59306800	Strong transcription	Fetal Stomach	stomach
43	chr12:59303800-59307200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:59303800-59307600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:59303800-59307800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:59303800-59308200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:59303800-59309400	Weak transcription	Esophagus	oesophagus
48	chr12:59303800-59311800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:59303800-59312400	Weak transcription	Gastric	stomach
50	chr12:59303800-59313000	Weak transcription	Lung	lung

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