Variant report

Variant	rs66813596
Chromosome Location	chr13:76056606-76056607
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	FOXP2	chr13:76055951-76056845	PFSK-1	brain:	n/a	n/a
2	MYC	chr13:76056513-76056955	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr13:76056525-76056712	K562	blood:	n/a	n/a
4	EP300	chr13:76056474-76056907	K562	blood:	n/a	chr13:76056489-76056498 chr13:76056873-76056887
5	HEY1	chr13:76056012-76056810	HepG2	liver:	n/a	chr13:76056513-76056528 chr13:76056256-76056271 chr13:76056407-76056422 chr13:76056250-76056265 chr13:76056267-76056282 chr13:76056279-76056294 chr13:76056401-76056416 chr13:76056272-76056287
6	TEAD4	chr13:76056457-76056751	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr13:76054815-76056994	K562	blood:	n/a	n/a
8	POLR2A	chr13:76055928-76056805	ProgFib	skin:	n/a	n/a
9	MAX	chr13:76054814-76056905	ECC-1	luminal epithelium:	n/a	chr13:76055278-76055294
10	POLR2A	chr13:76056058-76056836	K562	blood:	n/a	n/a
11	JUND	chr13:76056567-76056813	H1-hESC	embryonic stem cell:	n/a	n/a
12	PAX5	chr13:76056554-76056887	GM12891	blood:	n/a	chr13:76056873-76056882
13	YY1	chr13:76055567-76057031	HepG2	liver:	n/a	chr13:76056240-76056254 chr13:76056102-76056111 chr13:76056239-76056250 chr13:76056055-76056066 chr13:76056239-76056248 chr13:76056268-76056279 chr13:76056096-76056110 chr13:76055966-76055980
14	MAZ	chr13:76055910-76057029	GM12878	blood:	n/a	n/a
15	SMC3	chr13:76056531-76056858	K562	blood:	n/a	n/a
16	YY1	chr13:76056320-76056904	H1-hESC	embryonic stem cell:	n/a	n/a
17	TCF3	chr13:76055938-76056825	GM12878	blood:	n/a	n/a
18	EP300	chr13:76055614-76057113	SK-N-SH	brain:	n/a	chr13:76055972-76055981 chr13:76056243-76056252 chr13:76056126-76056142 chr13:76056489-76056498 chr13:76056275-76056284 chr13:76056873-76056887
19	CTCF	chr13:76056543-76056655	SK-N-SH_RA	brain:	n/a	n/a
20	BRCA1	chr13:76056402-76057001	Hela-S3	cervix:	n/a	n/a
21	SPI1	chr13:76056569-76057033	GM12878	blood:	n/a	chr13:76056873-76056882
22	CTCF	chr13:76056463-76056907	Fibrobl	skin:	n/a	n/a
23	MXI1	chr13:76054261-76057449	SK-N-SH	brain:	n/a	chr13:76055275-76055284
24	POLR2A	chr13:76055939-76057047	U87	brain:	n/a	n/a
25	CTCF	chr13:76056480-76056630	GM12870	blood:	n/a	n/a
26	JUND	chr13:76056484-76056988	H1-hESC	embryonic stem cell:	n/a	chr13:76056875-76056884
27	TBP	chr13:76056390-76057044	Hela-S3	cervix:	n/a	n/a
28	ZNF143	chr13:76055605-76056927	Hela-S3	cervix:	n/a	chr13:76056612-76056630
29	TCF12	chr13:76056308-76057022	A549	lung:	n/a	chr13:76056401-76056411
30	EP300	chr13:76056369-76056876	SK-N-SH_RA	brain:	n/a	chr13:76056489-76056498
31	KAP1	chr13:76056349-76057046	HEK293	kidney:	n/a	n/a
32	E2F6	chr13:76054955-76056792	K562	blood:	n/a	chr13:76056331-76056343 chr13:76055418-76055433 chr13:76056100-76056110 chr13:76056313-76056328 chr13:76055381-76055390 chr13:76056102-76056111 chr13:76055947-76055956 chr13:76055338-76055350 chr13:76055373-76055382
33	CTCF	chr13:76056518-76056907	MCF-7	breast:	n/a	n/a
34	TAF1	chr13:76056212-76056909	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr13:76055932-76056813	GM12878	blood:	n/a	n/a
36	SMARCC2	chr13:76055549-76056765	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr13:76054874-76056965	Hela-S3	cervix:	n/a	chr13:76056502-76056512
38	MYC	chr13:76056297-76056657	MCF-7	breast:	n/a	n/a
39	NRF1	chr13:76056603-76056841	H1-hESC	embryonic stem cell:	n/a	chr13:76056629-76056638
40	BCL3	chr13:76056408-76056777	A549	lung:	n/a	chr13:76056410-76056423
41	POLR2A	chr13:76056020-76056884	HepG2	liver:	n/a	n/a
42	POLR2A	chr13:76054740-76056981	Hela-S3	cervix:	n/a	n/a
43	MYBL2	chr13:76056290-76056847	HepG2	liver:	n/a	n/a
44	CTCF	chr13:76056518-76056963	A549	lung:	n/a	n/a
45	MXI1	chr13:76056211-76056913	Hela-S3	cervix:	n/a	n/a
46	JUND	chr13:76056185-76056819	K562	blood:	n/a	n/a
47	RFX5	chr13:76056167-76056995	Hela-S3	cervix:	n/a	n/a
48	MAX	chr13:76056202-76056948	K562	blood:	n/a	n/a
49	ZBTB7A	chr13:76056395-76057078	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr13:76054702-76056986	Hela-S3	cervix:	n/a	chr13:76055278-76055294

No.	Distal block	Cell Line	Cell type
1	chr13:75946564..75947349-chr13:76056407..76057240,4	MCF-7	breast:
2	chr13:76056260..76057375-chr13:76122984..76124053,8	MCF-7	breast:
3	chr13:76056300..76056975-chr13:76123456..76123993,3	K562	blood:
4	chr13:76055137..76056712-chr13:76122225..76124650,2	MCF-7	breast:
5	chr13:76055919..76057695-chr13:76110507..76112437,2	MCF-7	breast:
6	chr13:76056169..76056921-chr13:76123095..76123971,5	MCF-7	breast:
7	chr13:76056486..76057156-chr16:7762589..7763109,2	MCF-7	breast:
8	chr13:76056043..76056870-chr9:130921742..130922557,2	HCT-116	colon:
9	chr13:76055248..76057886-chr13:76110224..76112780,4	MCF-7	breast:
10	chr13:76055434..76058277-chr13:76123047..76126766,3	K562	blood:

Variant related genes	Relation type
TBC1D4	TF binding region
ENSG00000171159	Chromatin interaction
ENSG00000188243	Chromatin interaction
ENSG00000261553	Chromatin interaction
ENSG00000118939	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs3812847	0.86[AFR][1000 genomes]
rs7327548	0.96[ASN][1000 genomes]
rs7994805	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9543944	0.94[ASN][1000 genomes]
rs9565166	0.81[AMR][1000 genomes]
rs9573556	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9573557	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9573559	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9573565	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9573568	0.91[ASN][1000 genomes]
rs9573569	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76052000-76057400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr13:76052200-76057000	Active TSS	Right Atrium	heart
3	chr13:76052600-76057000	Active TSS	Left Ventricle	heart
4	chr13:76052600-76057000	Active TSS	Right Ventricle	heart
5	chr13:76053000-76057000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:76053200-76057400	Active TSS	Fetal Kidney	kidney
7	chr13:76053400-76057000	Active TSS	Fetal Heart	heart
8	chr13:76053400-76057000	Active TSS	Psoas Muscle	Psoas
9	chr13:76053400-76057000	Active TSS	K562	blood
10	chr13:76053400-76057200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr13:76053600-76057200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr13:76053600-76057400	Active TSS	Fetal Muscle Leg	muscle
13	chr13:76053600-76057400	Active TSS	NHDF-Ad	bronchial
14	chr13:76053800-76057000	Active TSS	Ovary	ovary
15	chr13:76053800-76057000	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr13:76053800-76057200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr13:76053800-76057200	Active TSS	HSMMtube	muscle
18	chr13:76053800-76057400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:76054000-76057000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr13:76054000-76057000	Active TSS	Fetal Lung	lung
21	chr13:76054000-76057000	Active TSS	Hela-S3	cervix
22	chr13:76054000-76057200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr13:76054000-76057400	Active TSS	HMEC	breast
24	chr13:76054000-76057400	Active TSS	NHLF	lung
25	chr13:76054200-76057000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:76054200-76057000	Active TSS	Brain Cingulate Gyrus	brain
27	chr13:76054200-76057000	Active TSS	NH-A	brain
28	chr13:76054200-76057200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:76054200-76057200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:76054200-76057400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:76054400-76057000	Active TSS	Brain Substantia Nigra	brain
32	chr13:76054400-76057000	Active TSS	Fetal Muscle Trunk	muscle
33	chr13:76054400-76057200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:76054400-76057200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:76054400-76057200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:76054400-76057200	Active TSS	Brain Anterior Caudate	brain
37	chr13:76054400-76057400	Active TSS	A549	lung
38	chr13:76054600-76056800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr13:76054600-76056800	Active TSS	NHEK	skin
40	chr13:76054600-76057000	Active TSS	Brain Angular Gyrus	brain
41	chr13:76054600-76057200	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr13:76054600-76057200	Active TSS	Placenta	Placenta
43	chr13:76054600-76057200	Active TSS	Osteobl	bone
44	chr13:76054800-76056800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:76054800-76056800	Active TSS	Gastric	stomach
46	chr13:76054800-76056800	Active TSS	Pancreas	Pancrea
47	chr13:76054800-76057000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr13:76054800-76057000	Active TSS	Aorta	Aorta
49	chr13:76054800-76057000	Active TSS	Colon Smooth Muscle	Colon
50	chr13:76054800-76057000	Active TSS	Esophagus	oesophagus

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