Variant report

Variant	esv3451372
Chromosome Location	chr6:70454531-70457929
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	E2F4	chr6:70457731-70457748	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr6:70454587-70454622	K562	blood:	n/a	n/a
3	POLR2A	chr6:70456715-70456719	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr6:70457254-70457437	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr6:70455480-70455635	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr6:70457335-70457469	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
GAPDHP42	TF binding region

Extended variants
information (count: 150 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140566082	chr6:70454570-70454571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73481760	chr6:70454592-70454593	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs550132815	chr6:70454605-70454606	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs117156208	chr6:70454635-70454636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532562629	chr6:70454677-70454678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75319795	chr6:70454685-70454686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115418541	chr6:70454716-70454717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376345349	chr6:70454729-70454730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200677579	chr6:70454753-70454754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79567589	chr6:70454755-70454756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79555904	chr6:70454756-70454757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565985388	chr6:70454824-70454825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141265344	chr6:70454833-70454834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113989723	chr6:70454838-70454839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184543279	chr6:70454858-70454859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568243758	chr6:70454859-70454860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537573537	chr6:70454879-70454880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557143446	chr6:70454880-70454881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190557637	chr6:70454884-70454885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146627465	chr6:70454950-70454951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553352956	chr6:70454986-70454987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193137565	chr6:70455005-70455006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541878738	chr6:70455015-70455016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9346343	chr6:70455024-70455025	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557273004	chr6:70455028-70455029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185156236	chr6:70455035-70455036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555054354	chr6:70455079-70455080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575386450	chr6:70455091-70455092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563984835	chr6:70455121-70455122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111523927	chr6:70455122-70455123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142539708	chr6:70455145-70455146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532742366	chr6:70455154-70455155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189011751	chr6:70455167-70455168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561397924	chr6:70455184-70455185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181027923	chr6:70455198-70455199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528739681	chr6:70455199-70455200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548445560	chr6:70455220-70455221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562088972	chr6:70455227-70455228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185498549	chr6:70455242-70455243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551058883	chr6:70455244-70455245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371734151	chr6:70455275-70455276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553185753	chr6:70455276-70455277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112931268	chr6:70455300-70455301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180875826	chr6:70455341-70455342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186062424	chr6:70455402-70455403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113689118	chr6:70455430-70455431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543814090	chr6:70455441-70455442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375531725	chr6:70455445-70455446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9454880	chr6:70455446-70455447	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548922883	chr6:70455447-70455448	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:205 , 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	chr6:70406600-70457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:70417400-70455600	Weak transcription	Fetal Kidney	kidney
6	chr6:70418600-70455800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:70426200-70455800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:70429000-70455600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:70429000-70462400	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:70429000-70467600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:70431400-70498600	Weak transcription	Ovary	ovary
12	chr6:70431600-70456000	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:70431800-70455800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:70431800-70456200	Weak transcription	Thymus	Thymus
15	chr6:70432000-70455600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:70432000-70455800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:70432000-70455800	Weak transcription	Fetal Intestine Small	intestine
18	chr6:70432000-70456000	Weak transcription	Esophagus	oesophagus
19	chr6:70432000-70456200	Weak transcription	Aorta	Aorta
20	chr6:70432000-70468200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:70432000-70470400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:70432000-70470400	Weak transcription	Gastric	stomach
23	chr6:70432000-70479800	Weak transcription	Pancreas	Pancrea
24	chr6:70432200-70480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:70432600-70461600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:70435800-70455800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:70435800-70456000	Weak transcription	Brain Substantia Nigra	brain
28	chr6:70435800-70498800	Weak transcription	Adipose Nuclei	Adipose
29	chr6:70436000-70455600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr6:70436000-70455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:70436000-70456000	Weak transcription	Brain Angular Gyrus	brain
32	chr6:70436000-70457200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:70436200-70455600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:70437000-70455400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:70437000-70455400	Weak transcription	Left Ventricle	heart
36	chr6:70441200-70463400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:70442400-70455600	Weak transcription	Fetal Stomach	stomach
38	chr6:70442400-70498200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:70442400-70498400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:70443000-70468000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:70443400-70456200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:70444800-70455600	Weak transcription	Fetal Brain Female	brain
43	chr6:70444800-70461000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:70445000-70458400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:70445200-70455600	Weak transcription	Fetal Lung	lung
46	chr6:70445200-70455800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:70445200-70456200	Weak transcription	Lung	lung
48	chr6:70445200-70458800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr6:70445200-70458800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:70445400-70455600	Weak transcription	Fetal Muscle Leg	muscle

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