Variant report

Variant	rs537259935
Chromosome Location	chr13:30881466-30881467
allele	-/ACCCAG
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	POLR2A	chr13:30881235-30881927	HepG2	liver:	n/a	n/a
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	CREB1	chr13:30881103-30881955	A549	lung:	n/a	n/a
6	STAT1	chr13:30881066-30881657	GM12878	blood:	n/a	chr13:30881316-30881328
7	POLR2A	chr13:30881186-30881563	HCT-116	colon:	n/a	n/a
8	ZBTB7A	chr13:30881009-30881486	HepG2	liver:	n/a	chr13:30881443-30881450
9	POLR2A	chr13:30880892-30882042	HepG2	liver:	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	HMGN3	chr13:30880854-30882005	K562	blood:	n/a	n/a
14	MAX	chr13:30880755-30882234	A549	lung:	n/a	chr13:30881600-30881609
15	POLR2A	chr13:30881244-30882019	GM12891	blood:	n/a	n/a
16	MTA3	chr13:30880633-30882097	GM12878	blood:	n/a	n/a
17	POLR2A	chr13:30880870-30881895	SK-N-SH	brain:	n/a	n/a
18	TAF1	chr13:30881063-30882091	H1-neurons	neurons:	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	POLR2A	chr13:30881230-30881935	A549	lung:	n/a	n/a
24	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
25	YY1	chr13:30881032-30881896	GM12892	blood:	n/a	chr13:30881623-30881637 chr13:30881202-30881213 chr13:30881196-30881210 chr13:30881583-30881592 chr13:30881608-30881622 chr13:30881584-30881595 chr13:30881617-30881631 chr13:30881586-30881595
26	POLR2A	chr13:30880867-30881962	GM12878	blood:	n/a	n/a
27	POLR2A	chr13:30880679-30881980	Raji	blood:	n/a	n/a
28	POLR2A	chr13:30880668-30881889	U87	brain:	n/a	n/a
29	BCLAF1	chr13:30880798-30881844	GM12878	blood:	n/a	chr13:30881584-30881593 chr13:30881201-30881214 chr13:30881608-30881621 chr13:30881671-30881680
30	MAX	chr13:30880778-30882319	HCT-116	colon:	n/a	chr13:30881600-30881609
31	CHD2	chr13:30880991-30881803	HepG2	liver:	n/a	n/a
32	SMC3	chr13:30880821-30881844	Hela-S3	cervix:	n/a	chr13:30881421-30881435
33	ZNF384	chr13:30880893-30881818	GM12878	blood:	n/a	n/a
34	IRF1	chr13:30881292-30883044	K562	blood:	n/a	n/a
35	POLR2A	chr13:30880719-30882082	Gliobla	brain:	n/a	n/a
36	ZNF263	chr13:30880425-30882090	HEK293-T-REx	kidney:	n/a	n/a
37	POLR2A	chr13:30881257-30882025	MCF-7	breast:	n/a	n/a
38	RAD21	chr13:30881423-30881947	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr13:30880710-30881937	PANC-1	pancreas:	n/a	n/a
40	ZEB1	chr13:30880799-30881756	GM12878	blood:	n/a	n/a
41	ZMIZ1	chr13:30881176-30882178	K562	blood:	n/a	n/a
42	TAF1	chr13:30880838-30881723	ECC-1	luminal epithelium:	n/a	n/a
43	ELF1	chr13:30880804-30881888	GM12878	blood:	n/a	chr13:30881583-30881592 chr13:30881586-30881595
44	POLR2A	chr13:30880767-30882357	K562	blood:	n/a	n/a
45	POLR2A	chr13:30881188-30881989	A549	lung:	n/a	n/a
46	POLR2A	chr13:30880810-30882372	K562	blood:	n/a	n/a
47	POLR2A	chr13:30881247-30881904	A549	lung:	n/a	n/a
48	PAX5	chr13:30881186-30882026	GM12878	blood:	n/a	chr13:30881615-30881624
49	POLR2A	chr13:30880752-30882089	GM12878	blood:	n/a	n/a
50	TBP	chr13:30880793-30881939	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:30881437-30881487	PrEC	prostate:	n/a
2	chr13:30881437-30881487	AG10803	skin:	n/a
3	chr13:30881437-30881487	HUVEC	blood vessel:	n/a
4	chr13:30881437-30881487	Hela-S3	cervix:	n/a
5	chr13:30881437-30881487	HAEpiC	amniotic membrane:	n/a
6	chr13:30881437-30881487	K562	blood:	n/a
7	chr13:30881437-30881487	HMEC	breast:	n/a
8	chr13:30881437-30881487	HRCEpiC	kidney:	n/a
9	chr13:30881437-30881487	AG09319	gingival:	n/a
10	chr13:30881437-30881487	Hepatocyte	liver:	n/a
11	chr13:30881437-30881487	HCT-116	colon:	n/a
12	chr13:30881437-30881487	HRPEpiC	eye:	n/a
13	chr13:30881437-30881487	GM06990	blood:	n/a
14	chr13:30881437-30881487	HCF	heart:	n/a
15	chr13:30881437-30881487	NB4	blood:	n/a
16	chr13:30881437-30881487	CMK	blood:	n/a
17	chr13:30881437-30881487	HCM	heart:	n/a
18	chr13:30881437-30881487	AoSMC	blood vessel:	n/a
19	chr13:30881437-30881487	HCPEpiC	choroid plexus:	n/a
20	chr13:30881437-30881487	PANC-1	pancreas:	n/a
21	chr13:30881437-30881487	ProgFib	skin:	n/a
22	chr13:30881437-30881487	ECC-1	luminal epithelium:	n/a
23	chr13:30881437-30881487	Caco-2	colon:	n/a
24	chr13:30881437-30881487	LNCaP	prostate:	n/a
25	chr13:30881437-30881487	HNPCEpiC	eye:	n/a
26	chr13:30881437-30881487	GM12892	blood:	n/a
27	chr13:30881437-30881487	HIPEpiC	eye:	n/a
28	chr13:30881437-30881487	NT2-D1	testis:	n/a
29	chr13:30881437-30881487	SKMC	muscle:	n/a
30	chr13:30881437-30881487	MCF-7	breast:	n/a
31	chr13:30881437-30881487	SK-N-MC	brain:	n/a
32	chr13:30881437-30881487	GM19239	blood:	n/a
33	chr13:30881437-30881487	MCF10A-Er-Src	breast:	n/a
34	chr13:30881437-30881487	SK-N-SH	brain:	n/a
35	chr13:30881437-30881487	HRE	kidney:	n/a
36	chr13:30881437-30881487	NHBE	bronchial:	n/a
37	chr13:30881437-30881487	Jurkat	blood:	n/a
38	chr13:30881437-30881487	BE2_C	brain:	n/a
39	chr13:30881437-30881487	SK-N-SH_RA	brain:	n/a
40	chr13:30881437-30881487	H1-hESC	embryonic stem cell:	embryo
41	chr13:30881437-30881487	HEEpiC	esophagus:	n/a
42	chr13:30881437-30881487	U87	brain:	n/a
43	chr13:30881437-30881487	HEK293	kidney:	embryo
44	chr13:30881437-30881487	SAEC	small airway:	n/a
45	chr13:30881437-30881487	PFSK-1	brain:	n/a
46	chr13:30881437-30881487	HPAEpiC	pulmonary alveolar:	n/a
47	chr13:30881437-30881487	ovcar-3	ovarian:	n/a
48	chr13:30881437-30881487	AG04450	lung:	fetal
49	chr13:30881437-30881487	HL-60	blood:	n/a
50	chr13:30881437-30881487	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30880213..30882773-chr13:31038194..31039987,2	K562	blood:
2	chr13:30881311..30882964-chr13:31038012..31040659,2	K562	blood:

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

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No data

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	chr13:30880000-30881800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:30880000-30881800	Active TSS	HMEC	breast
11	chr13:30880000-30882000	Active TSS	Colon Smooth Muscle	Colon
12	chr13:30880000-30882000	Active TSS	Thymus	Thymus
13	chr13:30880000-30882000	Active TSS	NH-A	brain
14	chr13:30880000-30882000	Active TSS	NHLF	lung
15	chr13:30880000-30882200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:30880000-30882200	Active TSS	Fetal Brain Female	brain
17	chr13:30880000-30882400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr13:30880000-30882800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr13:30880200-30881800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:30880200-30881800	Active TSS	GM12878-XiMat	blood
21	chr13:30880200-30882000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:30880200-30882000	Active TSS	Muscle Satellite Cultured Cells	--
23	chr13:30880200-30882000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr13:30880200-30882200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:30880200-30882200	Active TSS	Fetal Stomach	stomach
26	chr13:30880200-30882200	Active TSS	NHDF-Ad	bronchial
27	chr13:30880200-30883000	Active TSS	K562	blood
28	chr13:30880400-30881800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:30880400-30881800	Active TSS	Fetal Intestine Small	intestine
30	chr13:30880400-30881800	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr13:30880400-30881800	Active TSS	Dnd41	blood
32	chr13:30880400-30882000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:30880400-30882000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:30880400-30882000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:30880400-30882200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr13:30880400-30882400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr13:30880400-30882400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:30880400-30882400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:30880400-30882400	Active TSS	Brain Angular Gyrus	brain
40	chr13:30880400-30882400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:30880400-30882400	Active TSS	Fetal Intestine Large	intestine
42	chr13:30880400-30882400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr13:30880400-30882400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr13:30880400-30882400	Active TSS	Right Ventricle	heart
45	chr13:30880600-30881600	Active TSS	Colonic Mucosa	Colon
46	chr13:30880600-30881800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:30880600-30881800	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr13:30880600-30881800	Active TSS	Fetal Muscle Trunk	muscle
49	chr13:30880600-30881800	Active TSS	Stomach Smooth Muscle	stomach
50	chr13:30880600-30882000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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