Variant report

Variant	esv1808925
Chromosome Location	chr6:29248149-29269143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr6:29261977-29262177	K562	blood:	n/a	n/a
2	CEBPB	chr6:29258155-29258170	K562	blood:	n/a	n/a
3	CTCF	chr6:29262000-29262150	NHEK	skin:	n/a	n/a
4	CTCF	chr6:29261960-29262110	GM12873	blood:	n/a	n/a
5	CTCF	chr6:29262020-29262170	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chr6:29262020-29262170	HEK293	kidney:	n/a	n/a
7	CTCF	chr6:29262020-29262170	GM12864	blood:	n/a	n/a
8	CTCF	chr6:29262040-29262190	HCT-116	colon:	n/a	n/a
9	CTCF	chr6:29262240-29262390	HCT-116	colon:	n/a	n/a
10	CTCF	chr6:29253354-29253419	GM10266	blood:	n/a	n/a
11	CTCF	chr6:29262300-29262450	GM12872	blood:	n/a	n/a
12	CTCF	chr6:29262020-29262170	K562	blood:	n/a	n/a
13	CTCF	chr6:29262040-29262190	GM12873	blood:	n/a	n/a
14	CTCF	chr6:29262040-29262190	GM12864	blood:	n/a	n/a
15	CTCF	chr6:29262040-29262190	GM12868	blood:	n/a	n/a
16	CTCF	chr6:29262020-29262170	HepG2	liver:	n/a	n/a
17	CUX1	chr6:29265917-29266177	GM12878	blood:	n/a	chr6:29266120-29266129
18	E2F4	chr6:29257623-29257823	MCF10A-Er-Src	breast:	n/a	n/a
19	EBF1	chr6:29269115-29269460	GM12878	blood:	n/a	n/a
20	EP300	chr6:29259277-29259325	GM12878	blood:	n/a	n/a
21	FOS	chr6:29262698-29262842	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr6:29262591-29262878	MCF10A-Er-Src	breast:	n/a	n/a
23	MAFF	chr6:29265028-29265228	HepG2	liver:	n/a	chr6:29265100-29265118
24	MAFF	chr6:29255521-29255710	HepG2	liver:	n/a	n/a
25	MAFK	chr6:29264997-29265250	HepG2	liver:	n/a	chr6:29265102-29265117
26	MAFK	chr6:29256172-29256276	HepG2	liver:	n/a	chr6:29256230-29256241
27	MAFK	chr6:29255496-29255779	HepG2	liver:	n/a	n/a
28	MAFK	chr6:29265031-29265159	HepG2	liver:	n/a	chr6:29265102-29265117
29	MAFK	chr6:29255470-29255789	HepG2	liver:	n/a	n/a
30	MAX	chr6:29262160-29262342	H1-hESC	embryonic stem cell:	n/a	n/a
31	MYC	chr6:29255684-29255885	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr6:29249157-29249314	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:29263255-29263292	MCF-7	breast:	n/a	n/a
34	POLR2A	chr6:29266128-29266160	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr6:29253660-29253785	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr6:29263249-29263345	Gliobla	brain:	n/a	n/a
37	SPI1	chr6:29266773-29266941	K562	blood:	n/a	n/a
38	STAT3	chr6:29251846-29251937	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr6:29266378-29266768	MCF10A-Er-Src	breast:	n/a	n/a
40	YY1	chr6:29261986-29262342	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29247877..29250644-chr6:29250918..29252814,2	MCF-7	breast:
2	chr6:29253740..29255871-chr6:29595247..29597139,2	K562	blood:
3	chr6:29247877..29250644-chr6:29250918..29252814,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR14J1-2	chr6:29257903-29258176	NONHSAT108515
2	lnc-OR14J1-2	chr6:29257903-29258217	ENSG00000232505.2

No data

Variant related genes	Relation type
OR2B4P	TF binding region
ENSG00000204681	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369335791	chr6:29253738-29253739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs9468508	chr6:29253756-29253757	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190307079	chr6:29253771-29253772	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529093004	chr6:29253800-29253801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539338329	chr6:29253879-29253880	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6901923	chr6:29253887-29253888	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181158760	chr6:29253929-29253930	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534010279	chr6:29253949-29253950	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564432199	chr6:29254105-29254106	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199514976	chr6:29254106-29254107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200576256	chr6:29254108-29254109	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372755317	chr6:29254109-29254110	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536983484	chr6:29254246-29254247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530053972	chr6:29254284-29254285	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570842643	chr6:29254315-29254316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539425236	chr6:29254320-29254321	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369504753	chr6:29254324-29254325	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148015572	chr6:29254365-29254366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7741086	chr6:29254366-29254367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542483079	chr6:29254382-29254383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143616368	chr6:29254400-29254401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185321461	chr6:29254407-29254408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs60594650	chr6:29254425-29254426	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9295797	chr6:29254452-29254453	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190613511	chr6:29254462-29254463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182789283	chr6:29254491-29254492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377447170	chr6:29254533-29254534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147194531	chr6:29254571-29254572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370879139	chr6:29254587-29254588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543246372	chr6:29254588-29254589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529145477	chr6:29254605-29254606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201933419	chr6:29254650-29254651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188950927	chr6:29254711-29254712	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574982904	chr6:29254824-29254825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9280577	chr6:29254847-29254848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12660609	chr6:29254848-29254849	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577154103	chr6:29254863-29254864	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7381747	chr6:29254906-29254907	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549393704	chr6:29254943-29254944	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144535981	chr6:29254944-29254945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7381760	chr6:29254969-29254970	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9257681	chr6:29254982-29254983	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
43	rs11966876	chr6:29254985-29254986	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112319007	chr6:29255004-29255005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536135358	chr6:29255020-29255021	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113093437	chr6:29255036-29255037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182948268	chr6:29255070-29255071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535176959	chr6:29255100-29255101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557841778	chr6:29255146-29255147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577652938	chr6:29255150-29255151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29256400-29256600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
2	chr6:29261800-29262400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:29261800-29262600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:29262000-29262400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:29263200-29263600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:29263400-29263600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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