Variant report

Variant	rs9492947
Chromosome Location	chr6:131705161-131705162
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56837449	1.00[EUR][1000 genomes]
rs6919802	1.00[EUR][1000 genomes]
rs7774923	1.00[EUR][1000 genomes]
rs9483263	1.00[EUR][1000 genomes]
rs9483266	1.00[EUR][1000 genomes]
rs9483267	1.00[EUR][1000 genomes]
rs9492938	1.00[EUR][1000 genomes]
rs9492939	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9492940	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9492943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9492945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9492946	1.00[EUR][1000 genomes]
rs9492948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9492950	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv830808	chr6:131521115-131735320	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1839224	chr6:131703293-131834119	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131687600-131705800	Weak transcription	Gastric	stomach
2	chr6:131690000-131711200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr6:131700800-131706400	Enhancers	HSMMtube	muscle
4	chr6:131701600-131708800	Weak transcription	Osteobl	bone
5	chr6:131701800-131705200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:131701800-131712400	Enhancers	Fetal Brain Male	brain
7	chr6:131702000-131705400	Enhancers	Fetal Muscle Leg	muscle
8	chr6:131702000-131705800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:131702400-131705200	Enhancers	Fetal Brain Female	brain
10	chr6:131702400-131705800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:131702800-131705400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:131703800-131705200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:131703800-131705600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr6:131703800-131707000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:131704000-131705200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:131704000-131705600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:131704000-131709400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:131704200-131708800	Weak transcription	Brain Germinal Matrix	brain
19	chr6:131704400-131705600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:131704600-131705400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:131704600-131706200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:131704800-131705600	Enhancers	NHDF-Ad	bronchial
23	chr6:131704800-131706200	Enhancers	HSMM	muscle
24	chr6:131705000-131705200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:131705000-131705200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
26	chr6:131705000-131705200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:131705000-131705400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:131705000-131705400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:131705000-131705400	Enhancers	Esophagus	oesophagus
30	chr6:131705000-131705400	Enhancers	Fetal Muscle Trunk	muscle
31	chr6:131705000-131705400	Enhancers	Small Intestine	intestine
32	chr6:131705000-131705600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:131705000-131705600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:131705000-131705800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:131705000-131706200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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