Variant report

Variant	rs6866338
Chromosome Location	chr5:146690030-146690031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs17547112	0.80[YRI][hapmap]
rs71580437	0.84[EUR][1000 genomes];0.84[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	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6866338	TCOF1	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146687800-146690200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:146688600-146690200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:146688600-146690600	Enhancers	HUVEC	blood vessel
4	chr5:146688600-146691000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:146688800-146691200	Weak transcription	Lung	lung
6	chr5:146688800-146707200	Weak transcription	Pancreas	Pancrea
7	chr5:146689000-146690200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:146689000-146690200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr5:146689200-146690400	Enhancers	HSMM	muscle
10	chr5:146689200-146690800	Enhancers	Osteobl	bone
11	chr5:146689400-146690600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:146689600-146690400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:146689600-146690400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:146689600-146690400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:146689600-146690400	Enhancers	Stomach Mucosa	stomach
16	chr5:146689600-146690400	Flanking Active TSS	A549	lung
17	chr5:146689600-146690400	Enhancers	HMEC	breast
18	chr5:146689600-146690400	Enhancers	HSMMtube	muscle
19	chr5:146689600-146690600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:146689600-146690600	Enhancers	Hela-S3	cervix
21	chr5:146689600-146691000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:146689600-146691000	Enhancers	Adipose Nuclei	Adipose
23	chr5:146689600-146691200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:146689800-146690200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:146689800-146690200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:146689800-146690200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:146689800-146690200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:146689800-146690400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:146689800-146690400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:146689800-146690400	Enhancers	Duodenum Mucosa	Duodenum
31	chr5:146689800-146690600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:146690000-146690400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:146690000-146690400	Flanking Active TSS	NH-A	brain

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