Variant report

Variant	rs169331
Chromosome Location	chr13:30878695-30878696
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30876062..30879070-chr13:30879667..30883104,4	K562	blood:
2	chr13:30874205..30876295-chr13:30876523..30878862,2	K562	blood:

Variant related genes	Relation type
ENSG00000102781	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1099860	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs185694	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs200505	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs200506	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs200512	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs200514	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs202079	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs202082	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs202083	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs202098	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs202099	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs202101	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs595449	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs609919	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs613291	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs628483	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs639234	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs653221	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs653251	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs672233	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs846495	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs846498	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs169331	KATNAL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 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	chr13:30864400-30879000	Weak transcription	Colon Smooth Muscle	Colon
5	chr13:30864400-30879800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:30865200-30879200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr13:30866800-30880800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:30868400-30880800	Weak transcription	Left Ventricle	heart
9	chr13:30869400-30878800	Weak transcription	Brain Anterior Caudate	brain
10	chr13:30869600-30879400	Weak transcription	Brain Substantia Nigra	brain
11	chr13:30870800-30880400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:30871000-30880400	Weak transcription	Fetal Intestine Small	intestine
13	chr13:30871000-30880400	Weak transcription	Right Ventricle	heart
14	chr13:30873800-30878800	Enhancers	NHLF	lung
15	chr13:30873800-30879200	Enhancers	NHDF-Ad	bronchial
16	chr13:30873800-30879400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:30873800-30879600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:30875000-30879400	Weak transcription	HSMM	muscle
19	chr13:30876000-30880600	Enhancers	Fetal Brain Male	brain
20	chr13:30876200-30880400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:30876200-30880600	Weak transcription	Ovary	ovary
22	chr13:30876400-30879000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr13:30876400-30879000	Weak transcription	HMEC	breast
24	chr13:30876400-30879600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:30876400-30879600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:30876400-30879600	Weak transcription	Psoas Muscle	Psoas
27	chr13:30876400-30880800	Weak transcription	Lung	lung
28	chr13:30876600-30880600	Enhancers	Fetal Heart	heart
29	chr13:30876800-30880200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr13:30877000-30879200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:30877000-30879200	Weak transcription	NH-A	brain
32	chr13:30877000-30879400	Weak transcription	Fetal Lung	lung
33	chr13:30877000-30879400	Weak transcription	NHEK	skin
34	chr13:30877000-30880600	Enhancers	Primary B cells from cord blood	blood
35	chr13:30877200-30880400	Enhancers	HepG2	liver
36	chr13:30877200-30880600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr13:30877400-30879400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:30877400-30879400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:30877400-30879600	Enhancers	Adipose Nuclei	Adipose
40	chr13:30877400-30879600	Enhancers	Fetal Thymus	thymus
41	chr13:30877400-30879800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:30877400-30879800	Weak transcription	Brain Angular Gyrus	brain
43	chr13:30877400-30880600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr13:30877400-30880600	Enhancers	Primary B cells from peripheral blood	blood
45	chr13:30877600-30879400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:30877600-30879400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr13:30877800-30879000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:30877800-30879000	Weak transcription	Brain Germinal Matrix	brain
49	chr13:30877800-30880400	Flanking Active TSS	Dnd41	blood
50	chr13:30877800-30880800	Weak transcription	Spleen	Spleen

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