Variant report

Variant	esv1825001
Chromosome Location	chr6:164533751-164546547
allele	n/a
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	BATF	chr6:164542513-164542855	GM12878	blood:	n/a	n/a
2	CEBPB	chr6:164546183-164546353	H1-hESC	embryonic stem cell:	n/a	chr6:164546307-164546318
3	CEBPB	chr6:164546296-164546354	A549	lung:	n/a	chr6:164546307-164546318
4	CEBPB	chr6:164546149-164546416	HepG2	liver:	n/a	chr6:164546307-164546318
5	EP300	chr6:164534846-164535029	K562	blood:	n/a	n/a
6	FOS	chr6:164546128-164546338	MCF10A-Er-Src	breast:	n/a	chr6:164546200-164546210 chr6:164546200-164546210 chr6:164546200-164546210 chr6:164546206-164546215
7	FOS	chr6:164546176-164546225	MCF10A-Er-Src	breast:	n/a	chr6:164546200-164546210 chr6:164546200-164546210 chr6:164546200-164546210 chr6:164546206-164546215
8	FOS	chr6:164546049-164546343	MCF10A-Er-Src	breast:	n/a	chr6:164546200-164546210 chr6:164546200-164546210 chr6:164546200-164546210 chr6:164546206-164546215
9	GABPA	chr6:164543991-164544064	HepG2	liver:	n/a	n/a
10	MAFF	chr6:164540669-164540786	HepG2	liver:	n/a	chr6:164540731-164540749
11	MAFK	chr6:164540674-164540839	HepG2	liver:	n/a	n/a
12	MAFK	chr6:164540639-164540829	HepG2	liver:	n/a	n/a
13	MAFK	chr6:164536474-164536642	HepG2	liver:	n/a	n/a
14	MAFK	chr6:164536438-164536582	IMR90	lung:	n/a	n/a
15	MAX	chr6:164539942-164539946	HepG2	liver:	n/a	n/a
16	NFYB	chr6:164538202-164538407	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164542325..164544675-chr6:164545731..164548053,2	K562	blood:
2	chr6:164542325..164544675-chr6:164545731..164548053,2	K562	blood:

Variant related genes	Relation type
ENSG00000230627	TF binding region

Extended variants
information (count: 504 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9458989	chr6:164533751-164533752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9456930	chr6:164533767-164533768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567058024	chr6:164533769-164533770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191173619	chr6:164533774-164533775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112333150	chr6:164533777-164533778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566650589	chr6:164533794-164533795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532508290	chr6:164533809-164533810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202158427	chr6:164533832-164533833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552304139	chr6:164533882-164533883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187948601	chr6:164533897-164533898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs714981	chr6:164533907-164533908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191899408	chr6:164533960-164533961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182918166	chr6:164533973-164533974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561052405	chr6:164533991-164533992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144950937	chr6:164533992-164533993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1821779	chr6:164534012-164534013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539381675	chr6:164534014-164534015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537875107	chr6:164534036-164534037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576035396	chr6:164534042-164534043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370573684	chr6:164534056-164534057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188127962	chr6:164534084-164534085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574668725	chr6:164534086-164534087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540446895	chr6:164534153-164534154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560178753	chr6:164534231-164534232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532508793	chr6:164534240-164534241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552495613	chr6:164534278-164534279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556125632	chr6:164534296-164534297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562734040	chr6:164534324-164534325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531770906	chr6:164534325-164534326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548486314	chr6:164534353-164534354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192748530	chr6:164534358-164534359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116948422	chr6:164534380-164534381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16896159	chr6:164534431-164534432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73240233	chr6:164534460-164534461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184995073	chr6:164534481-164534482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556265695	chr6:164534483-164534484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575933808	chr6:164534490-164534491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535109826	chr6:164534543-164534544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116407725	chr6:164534547-164534548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372946988	chr6:164534561-164534562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs60873963	chr6:164534580-164534581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4709823	chr6:164534582-164534583	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577411926	chr6:164534613-164534614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545968406	chr6:164534682-164534683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189107059	chr6:164534686-164534687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531583561	chr6:164534713-164534714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2576195	chr6:164534746-164534747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561924890	chr6:164534747-164534748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191581272	chr6:164534789-164534790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541995515	chr6:164534817-164534818	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164523400-164536400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:164528000-164537200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:164530800-164534600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:164530800-164535600	Weak transcription	Brain Anterior Caudate	brain
5	chr6:164531000-164534400	Weak transcription	Right Ventricle	heart
6	chr6:164531600-164537400	Weak transcription	Fetal Heart	heart
7	chr6:164532000-164541400	Weak transcription	Left Ventricle	heart
8	chr6:164534400-164534600	Enhancers	Right Ventricle	heart
9	chr6:164534600-164534800	Weak transcription	Brain Substantia Nigra	brain
10	chr6:164534600-164538600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:164534800-164535000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:164534800-164535600	Enhancers	Brain Substantia Nigra	brain
13	chr6:164535000-164535600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:164535200-164535400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:164535200-164537200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:164535400-164535600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:164535600-164536400	Enhancers	Brain Anterior Caudate	brain
18	chr6:164535600-164536800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:164535600-164537400	Weak transcription	Brain Substantia Nigra	brain
20	chr6:164535800-164536200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:164536200-164536400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:164536200-164536400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:164536400-164536600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:164536800-164537400	Enhancers	Brain Germinal Matrix	brain
25	chr6:164537200-164538000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:164537400-164537800	Enhancers	Brain Substantia Nigra	brain
27	chr6:164537400-164537800	Enhancers	Fetal Heart	heart
28	chr6:164537400-164538800	Weak transcription	Brain Germinal Matrix	brain
29	chr6:164537800-164542000	Weak transcription	Fetal Heart	heart
30	chr6:164538400-164539400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:164538800-164539000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:164539000-164539200	Enhancers	Brain Germinal Matrix	brain
33	chr6:164543400-164543600	ZNF genes & repeats	Pancreas	Pancrea
34	chr6:164543600-164544600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:164543600-164554400	Weak transcription	Pancreas	Pancrea
36	chr6:164544600-164544800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:164544800-164546200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:164546200-164546400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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