Variant report

Variant	rs12506758
Chromosome Location	chr4:151150170-151150171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12501888	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12513356	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58654970	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72617457	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7679888	0.94[ASN][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	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151114200-151154200	Weak transcription	Aorta	Aorta
2	chr4:151130600-151156000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:151132800-151150400	Weak transcription	Pancreas	Pancrea
4	chr4:151133200-151150400	Weak transcription	Right Ventricle	heart
5	chr4:151133400-151150400	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:151138600-151150400	Weak transcription	Ovary	ovary
7	chr4:151138800-151151600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:151138800-151151800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:151138800-151153200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:151138800-151153400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:151138800-151153400	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:151138800-151169800	Weak transcription	Spleen	Spleen
13	chr4:151139000-151153600	Weak transcription	Adipose Nuclei	Adipose
14	chr4:151139200-151150400	Weak transcription	Fetal Brain Female	brain
15	chr4:151139600-151177400	Weak transcription	Brain Substantia Nigra	brain
16	chr4:151139600-151181000	Weak transcription	Brain Angular Gyrus	brain
17	chr4:151139800-151150400	Weak transcription	Fetal Lung	lung
18	chr4:151139800-151153200	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:151139800-151153600	Weak transcription	Brain Anterior Caudate	brain
20	chr4:151140000-151175000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:151141400-151153800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:151142200-151172200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:151144000-151150400	Weak transcription	Fetal Stomach	stomach
24	chr4:151145800-151153800	Enhancers	Fetal Heart	heart
25	chr4:151146200-151169200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:151146400-151150400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:151146400-151150400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:151146400-151157400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr4:151146400-151157400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:151146400-151165600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:151146600-151150400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:151146600-151150400	Weak transcription	Left Ventricle	heart
33	chr4:151146600-151150400	Weak transcription	HUVEC	blood vessel
34	chr4:151146600-151150600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:151146600-151150600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:151146600-151150600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:151146600-151150600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:151146600-151153400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr4:151146600-151156400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:151146600-151165600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:151146800-151150600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:151147000-151153800	Enhancers	Brain Germinal Matrix	brain
43	chr4:151147200-151150400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:151147200-151150400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:151147200-151150400	Weak transcription	NH-A	brain
46	chr4:151147200-151153000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:151147400-151150400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:151147600-151150400	Weak transcription	NHLF	lung
49	chr4:151147800-151150400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:151148000-151150400	Strong transcription	HSMM	muscle

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