Variant report

Variant	rs202098
Chromosome Location	chr13:30896774-30896775
allele	G/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	BHLHE40	chr13:30896549-30896882	K562	blood:	n/a	n/a
2	EGR1	chr13:30896598-30896948	K562	blood:	n/a	n/a
3	HDAC2	chr13:30896717-30896953	K562	blood:	n/a	n/a
4	RCOR1	chr13:30896629-30897104	K562	blood:	n/a	n/a
5	JUND	chr13:30896602-30896911	K562	blood:	n/a	n/a
6	STAT5A	chr13:30896538-30896985	K562	blood:	n/a	chr13:30896775-30896784 chr13:30896774-30896783
7	TAL1	chr13:30896581-30896965	K562	blood:	n/a	n/a
8	EP300	chr13:30896600-30896913	K562	blood:	n/a	n/a
9	POLR2A	chr13:30896690-30896873	K562	blood:	n/a	n/a
10	TEAD4	chr13:30896580-30897000	K562	blood:	n/a	n/a
11	EGR1	chr13:30896662-30896897	K562	blood:	n/a	n/a
12	GATA2	chr13:30896594-30896856	K562	blood:	n/a	n/a
13	STAT5A	chr13:30896660-30896929	K562	blood:	n/a	chr13:30896775-30896784 chr13:30896774-30896783
14	RCOR1	chr13:30896571-30897001	K562	blood:	n/a	n/a
15	ZNF384	chr13:30896570-30896958	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30880917..30883470-chr13:30895639..30898288,2	K562	blood:

Variant related genes	Relation type
LINC00427	TF binding region
ENSG00000102781	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1099860	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs169331	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs185694	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952607	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs200505	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs200506	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs200512	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs200514	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202079	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]
rs202082	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202083	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595449	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs609919	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs613291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628483	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs639234	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs653221	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs653251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672233	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846498	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315003	0.94[CEU][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs202098	KATNAL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30882200-30910800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr13:30882400-30905400	Weak transcription	Right Ventricle	heart
3	chr13:30882400-30905400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr13:30886000-30898400	Weak transcription	Lung	lung
5	chr13:30886800-30896800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:30886800-30900000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:30888000-30903400	Weak transcription	Fetal Thymus	thymus
8	chr13:30888000-30909600	Weak transcription	Thymus	Thymus
9	chr13:30889400-30899400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:30889400-30906400	Weak transcription	Primary B cells from cord blood	blood
11	chr13:30889600-30898000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:30889600-30902400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr13:30892400-30896800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:30892800-30896800	Weak transcription	Left Ventricle	heart
15	chr13:30892800-30897800	Weak transcription	Right Atrium	heart
16	chr13:30892800-30913400	Weak transcription	Psoas Muscle	Psoas
17	chr13:30894200-30896800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:30894200-30897400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr13:30894200-30897400	Weak transcription	NHLF	lung
20	chr13:30894200-30897800	Weak transcription	Fetal Muscle Leg	muscle
21	chr13:30894200-30900200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr13:30894200-30903000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:30894600-30897600	Weak transcription	Brain Hippocampus Middle	brain
24	chr13:30894800-30896800	Weak transcription	Aorta	Aorta
25	chr13:30894800-30905400	Weak transcription	Brain Anterior Caudate	brain
26	chr13:30895800-30896800	Weak transcription	K562	blood
27	chr13:30895800-30898000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr13:30896000-30899600	Weak transcription	Fetal Heart	heart

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