Variant report

Variant	rs202082
Chromosome Location	chr13:30881026-30881027
allele	A/G
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	POLR2A	chr13:30880673-30882514	K562	blood:	n/a	n/a
2	POLR2A	chr13:30880805-30882117	K562	blood:	n/a	n/a
3	YY1	chr13:30881009-30881384	HepG2	liver:	n/a	chr13:30881202-30881213 chr13:30881196-30881210
4	ZNF143	chr13:30880857-30881911	K562	blood:	n/a	chr13:30881889-30881907 chr13:30881277-30881296 chr13:30881273-30881282 chr13:30881275-30881284 chr13:30881317-30881335 chr13:30881273-30881291 chr13:30881204-30881222 chr13:30881280-30881295 chr13:30881704-30881722
5	POLR2A	chr13:30880988-30881135	HepG2	liver:	n/a	n/a
6	ZBTB7A	chr13:30881009-30881486	HepG2	liver:	n/a	chr13:30881443-30881450
7	POLR2A	chr13:30880892-30882042	HepG2	liver:	n/a	n/a
8	HNF4G	chr13:30880931-30881344	HepG2	liver:	n/a	n/a
9	ZBTB7A	chr13:30880823-30881248	K562	blood:	n/a	n/a
10	POLR2A	chr13:30880725-30881500	HUVEC	blood vessel:	n/a	n/a
11	ZNF143	chr13:30880814-30881612	Hela-S3	cervix:	n/a	chr13:30881277-30881296 chr13:30881273-30881282 chr13:30881275-30881284 chr13:30881317-30881335 chr13:30881273-30881291 chr13:30881204-30881222 chr13:30881280-30881295
12	POLR2A	chr13:30880802-30881995	HEK293	kidney:	n/a	n/a
13	CHD2	chr13:30880887-30881224	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr13:30880831-30881105	GM12878	blood:	n/a	n/a
15	HMGN3	chr13:30880854-30882005	K562	blood:	n/a	n/a
16	MAX	chr13:30880755-30882234	A549	lung:	n/a	chr13:30881600-30881609
17	MTA3	chr13:30880633-30882097	GM12878	blood:	n/a	n/a
18	POLR2A	chr13:30880870-30881895	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr13:30880757-30881873	HCT-116	colon:	n/a	n/a
20	MAZ	chr13:30880731-30882197	GM12878	blood:	n/a	chr13:30881600-30881609
21	BHLHE40	chr13:30880933-30881937	K562	blood:	n/a	chr13:30881610-30881626
22	POLR2A	chr13:30880785-30881974	GM18526	blood:	n/a	n/a
23	E2F6	chr13:30880910-30882148	K562	blood:	n/a	chr13:30881910-30881922 chr13:30881609-30881619 chr13:30881909-30881920 chr13:30881911-30881918 chr13:30881911-30881918 chr13:30881303-30881318 chr13:30881305-30881317 chr13:30881906-30881913 chr13:30881911-30881918 chr13:30881584-30881594 chr13:30881053-30881065
24	POLR2A	chr13:30880705-30881119	GM12892	blood:	n/a	n/a
25	POLR2A	chr13:30880867-30881962	GM12878	blood:	n/a	n/a
26	POLR2A	chr13:30880679-30881980	Raji	blood:	n/a	n/a
27	POLR2A	chr13:30880668-30881889	U87	brain:	n/a	n/a
28	TCF12	chr13:30880701-30881227	A549	lung:	n/a	n/a
29	POLR2A	chr13:30880638-30881145	GM12892	blood:	n/a	n/a
30	BCLAF1	chr13:30880798-30881844	GM12878	blood:	n/a	chr13:30881584-30881593 chr13:30881201-30881214 chr13:30881608-30881621 chr13:30881671-30881680
31	MAX	chr13:30880778-30882319	HCT-116	colon:	n/a	chr13:30881600-30881609
32	CHD2	chr13:30880991-30881803	HepG2	liver:	n/a	n/a
33	SMC3	chr13:30880821-30881844	Hela-S3	cervix:	n/a	chr13:30881421-30881435
34	ZNF384	chr13:30880893-30881818	GM12878	blood:	n/a	n/a
35	POLR2A	chr13:30880805-30881081	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr13:30880719-30882082	Gliobla	brain:	n/a	n/a
37	ZNF263	chr13:30880425-30882090	HEK293-T-REx	kidney:	n/a	n/a
38	POLR2A	chr13:30880710-30881937	PANC-1	pancreas:	n/a	n/a
39	ZEB1	chr13:30880799-30881756	GM12878	blood:	n/a	n/a
40	TAF1	chr13:30880838-30881723	ECC-1	luminal epithelium:	n/a	n/a
41	ELF1	chr13:30880804-30881888	GM12878	blood:	n/a	chr13:30881583-30881592 chr13:30881586-30881595
42	POLR2A	chr13:30880767-30882357	K562	blood:	n/a	n/a
43	POLR2A	chr13:30880810-30882372	K562	blood:	n/a	n/a
44	YY1	chr13:30880866-30881420	GM12878	blood:	n/a	chr13:30881202-30881213 chr13:30881196-30881210
45	POLR2A	chr13:30880768-30881174	ECC-1	luminal epithelium:	n/a	n/a
46	E2F6	chr13:30880908-30881172	K562	blood:	n/a	chr13:30881053-30881065
47	POLR2A	chr13:30880752-30882089	GM12878	blood:	n/a	n/a
48	ELK1	chr13:30880716-30881396	GM12878	blood:	n/a	n/a
49	TBP	chr13:30880793-30881939	HepG2	liver:	n/a	n/a
50	RCOR1	chr13:30880829-30882164	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30880213..30882773-chr13:31038194..31039987,2	K562	blood:

Variant related genes	Relation type
KATNAL1	TF binding region
ENSG00000189403	Chromatin interaction

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

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

rs_ID	r²[population]
rs1099860	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs169331	0.82[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs202083	0.82[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]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3327826	chr13:30880377-30882925	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs202082	KATNAL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30879600-30881600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:30879600-30882000	Active TSS	A549	lung
3	chr13:30879800-30882000	Active TSS	Fetal Thymus	thymus
4	chr13:30879800-30882200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr13:30879800-30882200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr13:30879800-30882200	Active TSS	Psoas Muscle	Psoas
7	chr13:30879800-30882400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr13:30879800-30882400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:30880000-30881200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:30880000-30881800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:30880000-30881800	Active TSS	HMEC	breast
12	chr13:30880000-30882000	Active TSS	Colon Smooth Muscle	Colon
13	chr13:30880000-30882000	Active TSS	Thymus	Thymus
14	chr13:30880000-30882000	Active TSS	NH-A	brain
15	chr13:30880000-30882000	Active TSS	NHLF	lung
16	chr13:30880000-30882200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:30880000-30882200	Active TSS	Fetal Brain Female	brain
18	chr13:30880000-30882400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr13:30880000-30882800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr13:30880200-30881800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:30880200-30881800	Active TSS	GM12878-XiMat	blood
22	chr13:30880200-30882000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:30880200-30882000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr13:30880200-30882000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr13:30880200-30882200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:30880200-30882200	Active TSS	Fetal Stomach	stomach
27	chr13:30880200-30882200	Active TSS	NHDF-Ad	bronchial
28	chr13:30880200-30883000	Active TSS	K562	blood
29	chr13:30880400-30881200	Active TSS	Right Atrium	heart
30	chr13:30880400-30881400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:30880400-30881800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:30880400-30881800	Active TSS	Fetal Intestine Small	intestine
33	chr13:30880400-30881800	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr13:30880400-30881800	Active TSS	Dnd41	blood
35	chr13:30880400-30882000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:30880400-30882000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:30880400-30882000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr13:30880400-30882200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr13:30880400-30882400	Active TSS	H1 Cell Line	embryonic stem cell
40	chr13:30880400-30882400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:30880400-30882400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:30880400-30882400	Active TSS	Brain Angular Gyrus	brain
43	chr13:30880400-30882400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr13:30880400-30882400	Active TSS	Fetal Intestine Large	intestine
45	chr13:30880400-30882400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr13:30880400-30882400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr13:30880400-30882400	Active TSS	Right Ventricle	heart
48	chr13:30880600-30881200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr13:30880600-30881600	Active TSS	Colonic Mucosa	Colon
50	chr13:30880600-30881800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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