Variant report

Variant	rs12874839
Chromosome Location	chr13:30891541-30891542
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30889520..30891949-chr13:30901907..30903845,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1296549	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs185694	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1952607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs200505	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs200512	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs202099	0.81[AMR][1000 genomes]
rs595449	0.81[AMR][1000 genomes]
rs613291	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs653251	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs672233	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs846495	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs846498	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9315003	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12874839	KATNAL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30882200-30892200	Weak transcription	Psoas Muscle	Psoas
2	chr13:30882200-30893800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:30882200-30896200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr13:30882200-30896200	Weak transcription	Ovary	ovary
5	chr13:30882200-30910800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr13:30882400-30892000	Weak transcription	Fetal Muscle Leg	muscle
7	chr13:30882400-30892200	Weak transcription	Right Atrium	heart
8	chr13:30882400-30894800	Weak transcription	Fetal Intestine Small	intestine
9	chr13:30882400-30905400	Weak transcription	Right Ventricle	heart
10	chr13:30882400-30905400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr13:30884600-30896000	Enhancers	Fetal Heart	heart
12	chr13:30885000-30894600	Weak transcription	Aorta	Aorta
13	chr13:30886000-30898400	Weak transcription	Lung	lung
14	chr13:30886200-30892000	Weak transcription	Dnd41	blood
15	chr13:30886800-30896800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:30886800-30900000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:30887600-30892600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:30887600-30893200	Weak transcription	NHDF-Ad	bronchial
19	chr13:30887600-30893400	Weak transcription	Brain Angular Gyrus	brain
20	chr13:30887800-30892000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:30887800-30892000	Weak transcription	Adipose Nuclei	Adipose
22	chr13:30887800-30892000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr13:30887800-30892400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr13:30888000-30892000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:30888000-30892000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr13:30888000-30894000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr13:30888000-30903400	Weak transcription	Fetal Thymus	thymus
28	chr13:30888000-30909600	Weak transcription	Thymus	Thymus
29	chr13:30888200-30892000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr13:30888200-30892200	Weak transcription	Osteobl	bone
31	chr13:30888200-30893800	Weak transcription	HSMMtube	muscle
32	chr13:30888600-30892000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:30888800-30892000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:30889000-30892000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr13:30889000-30893800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr13:30889200-30893400	Weak transcription	NHLF	lung
37	chr13:30889400-30899400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:30889400-30906400	Weak transcription	Primary B cells from cord blood	blood
39	chr13:30889600-30898000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:30889600-30902400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr13:30889800-30892000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:30889800-30892000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr13:30890200-30892800	Enhancers	Left Ventricle	heart
44	chr13:30890800-30892000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:30890800-30892000	Weak transcription	Brain Anterior Caudate	brain
46	chr13:30890800-30892000	Weak transcription	Brain Hippocampus Middle	brain
47	chr13:30890800-30892200	Weak transcription	Brain Substantia Nigra	brain
48	chr13:30890800-30894000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr13:30891000-30892000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr13:30891000-30892000	Weak transcription	Rectal Smooth Muscle	rectum

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