Variant report

Variant	rs12344293
Chromosome Location	chr9:26880918-26880919
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:26880841-26881171	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000232466	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10812483	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10812484	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967568	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967574	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967577	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967579	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967582	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967583	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967584	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12004912	0.90[AFR][1000 genomes]
rs12335922	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12336610	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12337566	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12338827	0.95[AFR][1000 genomes]
rs12342214	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12343057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12343845	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12343965	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12344019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12345414	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12345417	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12345714	0.88[AFR][1000 genomes]
rs12346378	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12351014	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12351117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12351187	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12352229	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12352731	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12352777	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12353080	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12353172	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1414799	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7023459	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7025993	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7026496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7029328	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7035029	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7039799	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7851035	0.83[AFR][1000 genomes];1.00[AMR][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	nsv1026827	chr9:26693515-26904699	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26822200-26889400	Weak transcription	Psoas Muscle	Psoas
2	chr9:26834000-26882400	Weak transcription	HUVEC	blood vessel
3	chr9:26834200-26882200	Weak transcription	HMEC	breast
4	chr9:26834200-26888200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr9:26834200-26891200	Weak transcription	NHDF-Ad	bronchial
6	chr9:26836600-26891400	Weak transcription	Brain Substantia Nigra	brain
7	chr9:26840600-26882400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:26842600-26882200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:26846600-26881600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr9:26847000-26883000	Weak transcription	K562	blood
11	chr9:26851400-26888000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr9:26851800-26888600	Weak transcription	Fetal Heart	heart
13	chr9:26851800-26891600	Weak transcription	Stomach Mucosa	stomach
14	chr9:26852400-26888000	Weak transcription	NHLF	lung
15	chr9:26855000-26882200	Weak transcription	Right Ventricle	heart
16	chr9:26855800-26888200	Weak transcription	NH-A	brain
17	chr9:26856000-26881600	Weak transcription	Brain Hippocampus Middle	brain
18	chr9:26856000-26882200	Weak transcription	Brain Anterior Caudate	brain
19	chr9:26856000-26882200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr9:26856200-26881400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:26856600-26888400	Weak transcription	Osteobl	bone
22	chr9:26857600-26891000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr9:26859400-26882200	Weak transcription	Small Intestine	intestine
24	chr9:26859600-26881400	Weak transcription	HSMMtube	muscle
25	chr9:26859800-26890000	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:26871200-26882200	Weak transcription	Hela-S3	cervix
27	chr9:26873400-26881400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:26875600-26882200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:26875600-26882200	Strong transcription	Liver	Liver
30	chr9:26875600-26882200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr9:26875600-26882400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr9:26875600-26885000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr9:26875800-26881800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:26875800-26887400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr9:26876000-26881600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:26876000-26881800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:26876000-26882200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr9:26876400-26881400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:26876400-26882200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr9:26876600-26882200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr9:26876800-26881600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:26876800-26882000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr9:26876800-26887400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr9:26876800-26888400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr9:26877400-26883400	Strong transcription	Adipose Nuclei	Adipose
46	chr9:26877400-26885000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr9:26878000-26881800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr9:26878000-26882000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr9:26878000-26884600	Strong transcription	Placenta	Placenta
50	chr9:26878000-26884800	Strong transcription	Rectal Mucosa Donor 31	rectum

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