Variant report

Variant	rs10509646
Chromosome Location	chr10:94520669-94520670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:94517024..94521206-chr10:94522377..94524965,5	K562	blood:
2	chr10:94519112..94521506-chr10:94526689..94529605,3	K562	blood:
3	chr10:94348631..94351976-chr10:94517080..94521274,3	K562	blood:
4	chr10:94518763..94521506-chr10:94525236..94529562,3	K562	blood:
5	chr10:94517234..94521779-chr10:94589479..94592725,5	K562	blood:

Variant related genes	Relation type
ENSG00000138190	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2497337	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs2497349	1.00[CHB][hapmap]
rs7100186	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446249	chr10:94374508-94549394	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10509646	SLC16A12	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94517000-94521200	Weak transcription	Aorta	Aorta
2	chr10:94517000-94521800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:94517200-94521400	Enhancers	HepG2	liver
4	chr10:94517400-94520800	Enhancers	Primary B cells from peripheral blood	blood
5	chr10:94517400-94521400	Weak transcription	Brain Angular Gyrus	brain
6	chr10:94517400-94522600	Enhancers	Primary hematopoietic stem cells	blood
7	chr10:94517800-94522200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr10:94518000-94521400	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:94518000-94521600	Weak transcription	Brain Anterior Caudate	brain
10	chr10:94518000-94521800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr10:94518000-94522800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr10:94519800-94521200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr10:94519800-94522000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:94520000-94521400	Enhancers	HUVEC	blood vessel
15	chr10:94520000-94521800	Enhancers	NHLF	lung
16	chr10:94520200-94520800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr10:94520200-94520800	Enhancers	Adipose Nuclei	Adipose
18	chr10:94520200-94520800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr10:94520200-94521200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:94520200-94521400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr10:94520200-94521800	Enhancers	Colon Smooth Muscle	Colon
22	chr10:94520200-94522000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr10:94520200-94522000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr10:94520200-94522200	Enhancers	Rectal Smooth Muscle	rectum
25	chr10:94520400-94520800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr10:94520400-94520800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:94520400-94520800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:94520400-94520800	Weak transcription	Placenta	Placenta
29	chr10:94520400-94520800	Flanking Active TSS	Hela-S3	cervix
30	chr10:94520400-94521200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr10:94520600-94520800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:94520600-94520800	Flanking Active TSS	K562	blood
33	chr10:94520600-94520800	Enhancers	NH-A	brain
34	chr10:94520600-94520800	Flanking Active TSS	Osteobl	bone
35	chr10:94520600-94521000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:94520600-94521800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:94520600-94521800	Enhancers	A549	lung

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