Variant report

Variant	rs1099860
Chromosome Location	chr13:30883168-30883169
allele	C/T
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	TBP	chr13:30882768-30883223	K562	blood:	n/a	n/a
2	CEBPB	chr13:30882904-30883189	HepG2	liver:	n/a	n/a
3	NFIC	chr13:30882324-30883423	GM12878	blood:	n/a	n/a
4	SPI1	chr13:30882464-30883270	GM12878	blood:	n/a	chr13:30882731-30882744 chr13:30882735-30882742
5	RCOR1	chr13:30882687-30883234	K562	blood:	n/a	n/a
6	CEBPB	chr13:30882827-30883207	IMR90	lung:	n/a	n/a
7	BACH1	chr13:30882437-30883242	K562	blood:	n/a	chr13:30882832-30882846
8	CEBPB	chr13:30882814-30883286	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30882921..30884448-chr13:30901661..30903319,2	K562	blood:
2	chr13:30882203..30884087-chr13:30995822..30997883,2	MCF-7	breast:

Variant related genes	Relation type
KATNAL1	TF binding region
ENSG00000225039	Chromatin interaction

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

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

rs_ID	r²[population]
rs169331	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs185694	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs200505	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs200506	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs200512	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs200514	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs202079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202082	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202083	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202098	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202099	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs202101	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs595449	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs609919	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs613291	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs628483	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs639234	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs653221	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs653251	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs672233	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs846495	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs846498	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1099860	KATNAL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30881800-30883400	Flanking Active TSS	GM12878-XiMat	blood
2	chr13:30882000-30885200	Weak transcription	Gastric	stomach
3	chr13:30882000-30889000	Weak transcription	Spleen	Spleen
4	chr13:30882200-30883200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr13:30882200-30883200	Enhancers	Fetal Heart	heart
6	chr13:30882200-30884200	Weak transcription	Aorta	Aorta
7	chr13:30882200-30885800	Weak transcription	Lung	lung
8	chr13:30882200-30885800	Weak transcription	Thymus	Thymus
9	chr13:30882200-30886000	Weak transcription	Esophagus	oesophagus
10	chr13:30882200-30886600	Weak transcription	HSMMtube	muscle
11	chr13:30882200-30887400	Weak transcription	Primary T cells from cord blood	blood
12	chr13:30882200-30889200	Weak transcription	Left Ventricle	heart
13	chr13:30882200-30889600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr13:30882200-30892200	Weak transcription	Psoas Muscle	Psoas
15	chr13:30882200-30893800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:30882200-30896200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr13:30882200-30896200	Weak transcription	Ovary	ovary
18	chr13:30882200-30910800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr13:30882400-30883200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:30882400-30883200	Enhancers	A549	lung
21	chr13:30882400-30883200	Enhancers	NHDF-Ad	bronchial
22	chr13:30882400-30883200	Enhancers	Osteobl	bone
23	chr13:30882400-30883400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr13:30882400-30883400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:30882400-30884200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:30882400-30884400	Enhancers	Primary B cells from cord blood	blood
27	chr13:30882400-30885000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:30882400-30885400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr13:30882400-30885400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:30882400-30885800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr13:30882400-30885800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr13:30882400-30885800	Weak transcription	Fetal Lung	lung
33	chr13:30882400-30886600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr13:30882400-30886600	Weak transcription	HSMM	muscle
35	chr13:30882400-30886800	Weak transcription	Liver	Liver
36	chr13:30882400-30887000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr13:30882400-30887000	Weak transcription	Brain Hippocampus Middle	brain
38	chr13:30882400-30887200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr13:30882400-30887200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:30882400-30887400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:30882400-30887400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr13:30882400-30887400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr13:30882400-30887600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr13:30882400-30892000	Weak transcription	Fetal Muscle Leg	muscle
45	chr13:30882400-30892200	Weak transcription	Right Atrium	heart
46	chr13:30882400-30894800	Weak transcription	Fetal Intestine Small	intestine
47	chr13:30882400-30905400	Weak transcription	Right Ventricle	heart
48	chr13:30882400-30905400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr13:30882600-30883200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:30882600-30883400	Enhancers	Muscle Satellite Cultured Cells	--

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