Variant report

Variant	esv3351114
Chromosome Location	chr6:87104094-87159106
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	CEBPB	chr6:87121685-87122155	MCF-7	breast:	n/a	chr6:87121978-87121989
2	CEBPB	chr6:87121837-87122134	HepG2	liver:	n/a	chr6:87121978-87121989
3	CEBPB	chr6:87127208-87127411	A549	lung:	n/a	chr6:87127280-87127293 chr6:87127280-87127291
4	CEBPB	chr6:87121788-87122144	MCF-7	breast:	n/a	chr6:87121978-87121989
5	CTCF	chr6:87144960-87145110	HEK293	kidney:	n/a	n/a
6	CTCF	chr6:87140772-87140888	MCF-7	breast:	n/a	chr6:87140814-87140827
7	CTCF	chr6:87144420-87144570	HepG2	liver:	n/a	n/a
8	CTCF	chr6:87144840-87144990	BE2_C	brain:	n/a	n/a
9	CTCF	chr6:87144441-87144461	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr6:87109440-87109590	GM12873	blood:	n/a	n/a
11	CTCF	chr6:87140804-87140828	GM19239	blood:	n/a	chr6:87140814-87140827
12	CTCF	chr6:87140778-87140881	MCF-7	breast:	n/a	chr6:87140814-87140827
13	E2F4	chr6:87156861-87156939	MCF10A-Er-Src	breast:	n/a	n/a
14	EBF1	chr6:87131381-87131523	GM12878	blood:	n/a	chr6:87131415-87131425 chr6:87131414-87131425 chr6:87131413-87131426 chr6:87131415-87131424 chr6:87131415-87131424
15	FOS	chr6:87121815-87122147	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr6:87121804-87122130	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr6:87121826-87122129	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr6:87121816-87122128	MCF10A-Er-Src	breast:	n/a	n/a
19	FOSL2	chr6:87121804-87122237	MCF-7	breast:	n/a	n/a
20	FOSL2	chr6:87121870-87122163	MCF-7	breast:	n/a	n/a
21	GATA2	chr6:87114310-87114717	SH-SY5Y	brain:	n/a	n/a
22	GATA2	chr6:87150375-87151177	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr6:87114404-87114630	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr6:87150232-87151197	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr6:87152868-87153425	SH-SY5Y	brain:	n/a	n/a
26	JUN	chr6:87127345-87127421	HepG2	liver:	n/a	chr6:87127383-87127393 chr6:87127383-87127393 chr6:87127382-87127394 chr6:87127384-87127393 chr6:87127383-87127393 chr6:87127345-87127358 chr6:87127383-87127393
27	JUN	chr6:87153451-87153523	K562	blood:	n/a	n/a
28	JUND	chr6:87158200-87158452	HepG2	liver:	n/a	chr6:87158291-87158302
29	MAFF	chr6:87145341-87145517	K562	blood:	n/a	chr6:87145401-87145419 chr6:87145400-87145414
30	MAFF	chr6:87145251-87145570	HepG2	liver:	n/a	chr6:87145401-87145419 chr6:87145400-87145414
31	MAFK	chr6:87148434-87148441	HepG2	liver:	n/a	n/a
32	MAFK	chr6:87148443-87148496	HepG2	liver:	n/a	chr6:87148455-87148470
33	MAFK	chr6:87145245-87145539	HepG2	liver:	n/a	chr6:87145400-87145414 chr6:87145406-87145417 chr6:87145401-87145411 chr6:87145407-87145418 chr6:87145399-87145415 chr6:87145405-87145419 chr6:87145404-87145413 chr6:87145407-87145418 chr6:87145402-87145418 chr6:87145402-87145417 chr6:87145397-87145417
34	MAFK	chr6:87145267-87145524	IMR90	lung:	n/a	chr6:87145400-87145414 chr6:87145406-87145417 chr6:87145401-87145411 chr6:87145407-87145418 chr6:87145399-87145415 chr6:87145405-87145419 chr6:87145404-87145413 chr6:87145407-87145418 chr6:87145402-87145418 chr6:87145402-87145417 chr6:87145397-87145417
35	MAFK	chr6:87113265-87113379	HepG2	liver:	n/a	n/a
36	MAFK	chr6:87145235-87145554	HepG2	liver:	n/a	chr6:87145400-87145414 chr6:87145406-87145417 chr6:87145401-87145411 chr6:87145407-87145418 chr6:87145399-87145415 chr6:87145405-87145419 chr6:87145404-87145413 chr6:87145407-87145418 chr6:87145402-87145418 chr6:87145402-87145417 chr6:87145397-87145417
37	MAX	chr6:87115125-87115130	NB4	blood:	n/a	n/a
38	MYC	chr6:87145129-87145285	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr6:87121997-87122050	NB4	blood:	n/a	n/a
40	MYC	chr6:87140813-87140858	MCF-7	breast:	n/a	n/a
41	POLR2A	chr6:87131234-87131587	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr6:87130418-87130440	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:87139572-87139711	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr6:87147613-87147875	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr6:87116059-87116118	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr6:87158918-87159063	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr6:87157737-87157753	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr6:87123771-87123790	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr6:87142775-87142894	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr6:87158320-87158580	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:87121819..87123929-chr6:87125096..87127462,2	MCF-7	breast:
2	chr6:87121819..87123929-chr6:87125096..87127462,2	MCF-7	breast:
3	chr6:87137847..87140371-chr6:87144269..87146494,2	K562	blood:
4	chr6:87137565..87139106-chr6:87140631..87142698,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HTR1E-4	chr6:87141962-87142387	NONHSAT113880
2	lnc-HTR1E-3	chr6:87145570-87145854	NONHSAT113881

Variant related genes	Relation type
ENSG00000219500	TF binding region
RN7SL643P	TF binding region
ENSG00000219500	chromatin interactions
ENSG00000243124	chromatin interactions

Extended variants
information (count: 945 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:945 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570496712	chr6:87114407-87114408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6925552	chr6:87114408-87114409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547666145	chr6:87114423-87114424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191504553	chr6:87114450-87114451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374138272	chr6:87114468-87114469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114448377	chr6:87114497-87114498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74841047	chr6:87114499-87114500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151020719	chr6:87114526-87114527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201160741	chr6:87114527-87114528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537112052	chr6:87114541-87114542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6454538	chr6:87114545-87114546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs72919223	chr6:87114602-87114603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540717888	chr6:87114625-87114626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183810664	chr6:87114627-87114628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574994325	chr6:87114630-87114631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187156210	chr6:87114638-87114639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369146572	chr6:87114703-87114704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146008059	chr6:87114767-87114768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560561281	chr6:87114768-87114769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545870911	chr6:87114769-87114770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147819243	chr6:87114830-87114831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74427128	chr6:87114855-87114856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs925168	chr6:87114861-87114862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546634756	chr6:87114911-87114912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74513093	chr6:87114914-87114915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529916924	chr6:87114966-87114967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs925167	chr6:87114979-87114980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192501463	chr6:87115003-87115004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13213146	chr6:87115018-87115019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1508250	chr6:87115021-87115022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568765288	chr6:87115047-87115048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141295827	chr6:87115048-87115049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552649378	chr6:87115067-87115068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574395349	chr6:87115111-87115112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113815284	chr6:87115127-87115128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183386968	chr6:87115143-87115144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186637341	chr6:87115148-87115149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1508249	chr6:87115167-87115168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116681591	chr6:87115168-87115169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189931229	chr6:87115171-87115172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528527811	chr6:87115211-87115212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566214457	chr6:87115223-87115224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540740953	chr6:87115227-87115228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150328780	chr6:87115231-87115232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529324581	chr6:87115232-87115233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137962616	chr6:87115250-87115251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563623582	chr6:87115256-87115257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374053669	chr6:87115265-87115266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78163599	chr6:87115333-87115334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371617446	chr6:87115340-87115341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Ependymoma	16718352	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87114400-87114600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:87114600-87116800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:87116800-87117000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:87116800-87117000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:87117200-87121800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:87129800-87130600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:87130600-87134400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:87132000-87132200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:87132200-87133800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:87134400-87135000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:87135000-87135600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:87135200-87136000	Enhancers	Fetal Heart	heart
13	chr6:87135600-87136000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:87140600-87141200	Enhancers	Brain Anterior Caudate	brain
15	chr6:87146400-87146800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:87146800-87147800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:87147800-87148000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:87156400-87157000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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