Variant report

Variant	nsv819863
Chromosome Location	chr6:70448447-70457777
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	chr6:70451253-70451353	K562	blood:	n/a	n/a
2	CEBPB	chr6:70451287-70451487	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F4	chr6:70457731-70457748	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr6:70454587-70454622	K562	blood:	n/a	n/a
5	MAFK	chr6:70450533-70450627	H1-hESC	embryonic stem cell:	n/a	chr6:70450584-70450600 chr6:70450585-70450596 chr6:70450583-70450597
6	MAFK	chr6:70450622-70450857	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:70448539-70448634	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr6:70456715-70456719	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr6:70457254-70457437	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr6:70450617-70450811	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr6:70452371-70452438	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:70449896-70449968	MCF-7	breast:	n/a	n/a
13	POLR2A	chr6:70453764-70453819	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:70449930-70449989	Gliobla	brain:	n/a	n/a
15	POLR2A	chr6:70451070-70451270	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr6:70451823-70451857	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr6:70455480-70455635	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr6:70457335-70457469	MCF10A-Er-Src	breast:	n/a	n/a
19	TBL1XR1	chr6:70454118-70454121	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GAPDHP42	TF binding region

Extended variants
information (count: 367 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:367 , 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	rs149923417	chr6:70448452-70448453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368325274	chr6:70448479-70448480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79369079	chr6:70448481-70448482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141219779	chr6:70448492-70448493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs67048003	chr6:70448501-70448502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs67570533	chr6:70448512-70448513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3217690	chr6:70448522-70448523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2290710	chr6:70448538-70448539	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377114339	chr6:70448587-70448588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548982971	chr6:70448594-70448595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568368751	chr6:70448599-70448600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537094311	chr6:70448629-70448630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550552946	chr6:70448683-70448684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570892519	chr6:70448696-70448697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577810371	chr6:70448707-70448708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367715144	chr6:70448789-70448790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553162548	chr6:70448794-70448795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367853050	chr6:70448846-70448847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545382796	chr6:70448947-70448948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185326235	chr6:70448950-70448951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555699881	chr6:70448960-70448961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371878282	chr6:70448988-70448989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144042115	chr6:70449069-70449070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72910832	chr6:70449112-70449113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564091376	chr6:70449120-70449121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148679902	chr6:70449126-70449127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540340522	chr6:70449138-70449139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559954379	chr6:70449139-70449140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528664803	chr6:70449158-70449159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567588307	chr6:70449170-70449171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188245511	chr6:70449184-70449185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200642379	chr6:70449279-70449280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7758522	chr6:70449282-70449283	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35483855	chr6:70449296-70449297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545980583	chr6:70449329-70449330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376540609	chr6:70449388-70449389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1993481	chr6:70449411-70449412	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570844890	chr6:70449500-70449501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191871944	chr6:70449587-70449588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147875306	chr6:70449588-70449589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566802765	chr6:70449599-70449600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60397804	chr6:70449695-70449696	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183667398	chr6:70449702-70449703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555589846	chr6:70449716-70449717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575642778	chr6:70449737-70449738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538165222	chr6:70449751-70449752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557735897	chr6:70449771-70449772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577578282	chr6:70449774-70449775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141572214	chr6:70449809-70449810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372224819	chr6:70449812-70449813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	17229543	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70380600-70455600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:70380800-70467800	Weak transcription	K562	blood
3	chr6:70405000-70468400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:70406600-70449400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:70406600-70457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:70417400-70455600	Weak transcription	Fetal Kidney	kidney
7	chr6:70418600-70455800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:70426200-70455800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:70429000-70455600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:70429000-70462400	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:70429000-70467600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:70431400-70498600	Weak transcription	Ovary	ovary
13	chr6:70431600-70456000	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:70431800-70450000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr6:70431800-70455800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:70431800-70456200	Weak transcription	Thymus	Thymus
17	chr6:70432000-70455600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:70432000-70455800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:70432000-70455800	Weak transcription	Fetal Intestine Small	intestine
20	chr6:70432000-70456000	Weak transcription	Esophagus	oesophagus
21	chr6:70432000-70456200	Weak transcription	Aorta	Aorta
22	chr6:70432000-70468200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:70432000-70470400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:70432000-70470400	Weak transcription	Gastric	stomach
25	chr6:70432000-70479800	Weak transcription	Pancreas	Pancrea
26	chr6:70432200-70450200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:70432200-70480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:70432600-70461600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:70435800-70455800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:70435800-70456000	Weak transcription	Brain Substantia Nigra	brain
31	chr6:70435800-70498800	Weak transcription	Adipose Nuclei	Adipose
32	chr6:70436000-70455600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr6:70436000-70455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:70436000-70456000	Weak transcription	Brain Angular Gyrus	brain
35	chr6:70436000-70457200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:70436200-70449800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:70436200-70455600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:70437000-70455400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:70437000-70455400	Weak transcription	Left Ventricle	heart
40	chr6:70441200-70463400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:70442400-70455600	Weak transcription	Fetal Stomach	stomach
42	chr6:70442400-70498200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:70442400-70498400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:70443000-70468000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:70443200-70448600	Strong transcription	Primary B cells from cord blood	blood
46	chr6:70443200-70450000	Weak transcription	Liver	Liver
47	chr6:70443400-70456200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:70443600-70452000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr6:70444000-70452400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:70444800-70451400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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