Variant report

Variant	rs202079
Chromosome Location	chr13:30879154-30879155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1099860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs169331	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs185694	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1952607	0.85[CEU][hapmap]
rs200505	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs200506	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs200512	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs200514	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs202082	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202083	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202098	0.90[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs202099	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs202101	0.94[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs595449	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs609919	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs613291	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs628483	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs639234	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs653221	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs653251	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs672233	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs846495	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs846498	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs202079	KATNAL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30843000-30880200	Weak transcription	Fetal Stomach	stomach
2	chr13:30859800-30879600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:30861000-30880800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:30864400-30879800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:30865200-30879200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr13:30866800-30880800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:30868400-30880800	Weak transcription	Left Ventricle	heart
8	chr13:30869600-30879400	Weak transcription	Brain Substantia Nigra	brain
9	chr13:30870800-30880400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:30871000-30880400	Weak transcription	Fetal Intestine Small	intestine
11	chr13:30871000-30880400	Weak transcription	Right Ventricle	heart
12	chr13:30873800-30879200	Enhancers	NHDF-Ad	bronchial
13	chr13:30873800-30879400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:30873800-30879600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:30875000-30879400	Weak transcription	HSMM	muscle
16	chr13:30876000-30880600	Enhancers	Fetal Brain Male	brain
17	chr13:30876200-30880400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:30876200-30880600	Weak transcription	Ovary	ovary
19	chr13:30876400-30879600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:30876400-30879600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:30876400-30879600	Weak transcription	Psoas Muscle	Psoas
22	chr13:30876400-30880800	Weak transcription	Lung	lung
23	chr13:30876600-30880600	Enhancers	Fetal Heart	heart
24	chr13:30876800-30880200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr13:30877000-30879200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:30877000-30879200	Weak transcription	NH-A	brain
27	chr13:30877000-30879400	Weak transcription	Fetal Lung	lung
28	chr13:30877000-30879400	Weak transcription	NHEK	skin
29	chr13:30877000-30880600	Enhancers	Primary B cells from cord blood	blood
30	chr13:30877200-30880400	Enhancers	HepG2	liver
31	chr13:30877200-30880600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr13:30877400-30879400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:30877400-30879400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:30877400-30879600	Enhancers	Adipose Nuclei	Adipose
35	chr13:30877400-30879600	Enhancers	Fetal Thymus	thymus
36	chr13:30877400-30879800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:30877400-30879800	Weak transcription	Brain Angular Gyrus	brain
38	chr13:30877400-30880600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr13:30877400-30880600	Enhancers	Primary B cells from peripheral blood	blood
40	chr13:30877600-30879400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr13:30877600-30879400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr13:30877800-30880400	Flanking Active TSS	Dnd41	blood
43	chr13:30877800-30880800	Weak transcription	Spleen	Spleen
44	chr13:30878000-30879400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr13:30878000-30879400	Weak transcription	HUVEC	blood vessel
46	chr13:30878000-30880200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:30878000-30880200	Enhancers	K562	blood
48	chr13:30878000-30880600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr13:30878000-30880600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr13:30878200-30879200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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