Variant report

Variant	esv13999
Chromosome Location	chr6:160545917-160553013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:160546065-160546540	HepG2	liver:	n/a	n/a
2	BHLHE40	chr6:160548959-160549204	K562	blood:	n/a	n/a
3	CEBPB	chr6:160546199-160546499	HepG2	liver:	n/a	n/a
4	CTCF	chr6:160550020-160550170	GM12865	blood:	n/a	n/a
5	E2F6	chr6:160548926-160549134	K562	blood:	n/a	n/a
6	EP300	chr6:160546217-160546410	HepG2	liver:	n/a	n/a
7	EP300	chr6:160546058-160546531	HepG2	liver:	n/a	n/a
8	EP300	chr6:160548601-160548735	HepG2	liver:	n/a	n/a
9	EP300	chr6:160546030-160546621	HepG2	liver:	n/a	n/a
10	EP300	chr6:160548858-160549140	K562	blood:	n/a	n/a
11	FOSL2	chr6:160546216-160546622	HepG2	liver:	n/a	n/a
12	FOXA1	chr6:160546120-160546619	HepG2	liver:	n/a	n/a
13	FOXA1	chr6:160546047-160546648	HepG2	liver:	n/a	n/a
14	FOXA1	chr6:160546103-160546526	HepG2	liver:	n/a	n/a
15	GATA2	chr6:160552757-160553108	SH-SY5Y	brain:	n/a	chr6:160552967-160552977 chr6:160552878-160552894 chr6:160552967-160552974
16	GATA2	chr6:160548858-160549085	K562	blood:	n/a	chr6:160549038-160549047 chr6:160549038-160549048 chr6:160549040-160549047 chr6:160549037-160549049 chr6:160549029-160549046
17	HDAC2	chr6:160546139-160546523	HepG2	liver:	n/a	n/a
18	HDAC2	chr6:160546080-160546513	HepG2	liver:	n/a	n/a
19	HEY1	chr6:160546035-160546257	HepG2	liver:	n/a	n/a
20	HEY1	chr6:160545989-160546390	HepG2	liver:	n/a	n/a
21	HNF4A	chr6:160546058-160546573	HepG2	liver:	n/a	n/a
22	HNF4A	chr6:160546135-160546603	HepG2	liver:	n/a	n/a
23	HNF4A	chr6:160546217-160546558	HepG2	liver:	n/a	n/a
24	HNF4G	chr6:160546103-160546524	HepG2	liver:	n/a	n/a
25	JUND	chr6:160546285-160546447	HepG2	liver:	n/a	n/a
26	JUND	chr6:160546237-160546579	HepG2	liver:	n/a	n/a
27	MAFK	chr6:160546342-160546408	HepG2	liver:	n/a	n/a
28	MAX	chr6:160548903-160549229	K562	blood:	n/a	n/a
29	MAX	chr6:160548846-160549257	K562	blood:	n/a	n/a
30	MAX	chr6:160546341-160546414	HepG2	liver:	n/a	n/a
31	MAX	chr6:160546130-160546632	HepG2	liver:	n/a	n/a
32	MBD4	chr6:160546128-160546523	HepG2	liver:	n/a	n/a
33	MXI1	chr6:160546137-160546516	HepG2	liver:	n/a	n/a
34	MYBL2	chr6:160545963-160546710	HepG2	liver:	n/a	n/a
35	MYBL2	chr6:160545995-160547146	HepG2	liver:	n/a	n/a
36	MYC	chr6:160548950-160549154	K562	blood:	n/a	n/a
37	MYC	chr6:160548897-160549163	K562	blood:	n/a	n/a
38	MYC	chr6:160549003-160549044	K562	blood:	n/a	n/a
39	MYC	chr6:160550141-160550299	H1-hESC	embryonic stem cell:	n/a	n/a
40	NFIC	chr6:160546029-160546524	HepG2	liver:	n/a	n/a
41	NFIC	chr6:160546050-160546436	HepG2	liver:	n/a	n/a
42	NFYB	chr6:160550483-160550717	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:160549033-160549196	HepG2	liver:	n/a	n/a
44	POLR2A	chr6:160549950-160550138	HepG2	liver:	n/a	n/a
45	POLR2A	chr6:160551685-160551951	HepG2	liver:	n/a	n/a
46	POLR2A	chr6:160549370-160549540	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:160552354-160552533	HepG2	liver:	n/a	n/a
48	POLR2A	chr6:160548992-160548998	K562	blood:	n/a	n/a
49	POLR2A	chr6:160550129-160550205	GM12878	blood:	n/a	n/a
50	RAD21	chr6:160546253-160546534	HepG2	liver:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:160552829..160554455-chr6:160557488..160559667,2	K562	blood:

No data

Variant related genes	Relation type
SLC22A1	TF binding region

Extended variants
information (count: 352 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145183522	chr6:160545917-160545918	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556011523	chr6:160545927-160545928	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146785976	chr6:160545953-160545954	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140513063	chr6:160545957-160545958	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73781859	chr6:160545979-160545980	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577746012	chr6:160546087-160546088	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs534049953	chr6:160546117-160546118	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs538047692	chr6:160546123-160546124	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370385705	chr6:160546148-160546149	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs374104216	chr6:160546151-160546152	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs543586547	chr6:160546174-160546175	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555814496	chr6:160546179-160546180	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs367963386	chr6:160546182-160546183	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs370816000	chr6:160546201-160546202	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs374186762	chr6:160546256-160546257	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs145668795	chr6:160546267-160546268	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs559279800	chr6:160546320-160546321	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs148116909	chr6:160546327-160546328	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs113250074	chr6:160546360-160546361	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs552045051	chr6:160546364-160546365	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs2777353	chr6:160546417-160546418	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs571779304	chr6:160546423-160546424	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200099070	chr6:160546438-160546439	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs621379	chr6:160546458-160546459	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs372162419	chr6:160546488-160546489	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs557884128	chr6:160546501-160546502	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs577826007	chr6:160546506-160546507	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs201021647	chr6:160546509-160546510	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs376725459	chr6:160546524-160546525	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs35237663	chr6:160546535-160546536	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs150343618	chr6:160546543-160546544	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs550863041	chr6:160546556-160546557	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs569790612	chr6:160546569-160546570	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535497394	chr6:160546570-160546571	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs79807075	chr6:160546572-160546573	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs76539549	chr6:160546574-160546575	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs78030439	chr6:160546576-160546577	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs201481067	chr6:160546582-160546583	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs374690555	chr6:160546583-160546584	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs200442923	chr6:160546587-160546588	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs111524918	chr6:160546608-160546609	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs36162003	chr6:160546641-160546642	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs56389754	chr6:160546654-160546655	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs565671195	chr6:160546663-160546664	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs1757396	chr6:160546669-160546670	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs534657644	chr6:160546671-160546672	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs573049933	chr6:160546717-160546718	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs371760207	chr6:160546724-160546725	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs71551151	chr6:160546736-160546737	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs13204436	chr6:160546752-160546753	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160526200-160548600	Weak transcription	K562	blood
2	chr6:160527400-160549200	Weak transcription	Colonic Mucosa	Colon
3	chr6:160527400-160550000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:160529400-160548000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:160529400-160559200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:160530400-160548600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:160530800-160553400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:160533400-160552800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:160538800-160557600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:160539000-160546800	Weak transcription	NHEK	skin
11	chr6:160539000-160553000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:160539400-160546200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:160539400-160554200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:160539400-160554800	Weak transcription	Spleen	Spleen
15	chr6:160539400-160558000	Weak transcription	Gastric	stomach
16	chr6:160539400-160559400	Weak transcription	Brain Angular Gyrus	brain
17	chr6:160539400-160559400	Weak transcription	HSMMtube	muscle
18	chr6:160539400-160559600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:160539400-160580400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:160539600-160553400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:160539600-160574600	Weak transcription	Adipose Nuclei	Adipose
22	chr6:160539800-160549000	Weak transcription	Primary T cells from cord blood	blood
23	chr6:160539800-160553400	Weak transcription	Ovary	ovary
24	chr6:160540200-160576200	Weak transcription	Right Ventricle	heart
25	chr6:160540400-160568800	Weak transcription	Esophagus	oesophagus
26	chr6:160541600-160553200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:160542600-160546000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:160543200-160561400	Weak transcription	Right Atrium	heart
29	chr6:160543400-160558600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:160543800-160551200	Weak transcription	Fetal Stomach	stomach
31	chr6:160544200-160552200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:160544200-160553000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:160544400-160547600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:160544800-160546800	Enhancers	Fetal Intestine Large	intestine
35	chr6:160544800-160546800	Enhancers	HepG2	liver
36	chr6:160545000-160546800	Enhancers	Fetal Intestine Small	intestine
37	chr6:160545000-160555200	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:160545000-160559000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:160545200-160546000	Enhancers	Pancreas	Pancrea
40	chr6:160545200-160552200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:160545200-160553000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:160545400-160546200	Enhancers	Duodenum Mucosa	Duodenum
43	chr6:160545600-160546000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:160545600-160546000	Flanking Active TSS	Liver	Liver
45	chr6:160546000-160546200	Active TSS	Liver	Liver
46	chr6:160546000-160546400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:160546000-160557000	Weak transcription	Pancreas	Pancrea
48	chr6:160546000-160559200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:160546200-160547200	Weak transcription	Liver	Liver
50	chr6:160546400-160560200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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