Variant report

Variant	esv3332290
Chromosome Location	chr6:149713665-149714092
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	BCL11A	chr6:149713704-149714053	GM12878	blood:	n/a	n/a
2	BCL11A	chr6:149713689-149714085	GM12878	blood:	n/a	n/a
3	EP300	chr6:149713562-149714159	GM12878	blood:	n/a	n/a
4	GATA3	chr6:149713874-149714508	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr6:149713861-149714532	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr6:149713696-149713705	MCF-7	breast:	n/a	n/a
7	STAT1	chr6:149713705-149713769	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TAB2	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189993460	chr6:149713775-149713776	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546980438	chr6:149713777-149713778	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564127475	chr6:149713778-149713779	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115745859	chr6:149713781-149713782	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369524397	chr6:149713782-149713783	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7349921	chr6:149713863-149713864	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139009964	chr6:149713895-149713896	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs406199	chr6:149713985-149713986	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372131501	chr6:149714004-149714005	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs529155358	chr6:149714034-149714035	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs549308881	chr6:149714039-149714040	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs528031704	chr6:149714058-149714059	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs562787909	chr6:149714066-149714067	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs531722818	chr6:149714068-149714069	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs139993651	chr6:149714077-149714078	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	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
Follicular lymphoma	20505157	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149687800-149726400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:149700400-149728400	Weak transcription	Hela-S3	cervix
3	chr6:149700400-149732400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:149700600-149721200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:149700600-149721200	Weak transcription	Colonic Mucosa	Colon
6	chr6:149700600-149721200	Weak transcription	Right Ventricle	heart
7	chr6:149700600-149730800	Weak transcription	Fetal Brain Male	brain
8	chr6:149700800-149721000	Weak transcription	K562	blood
9	chr6:149700800-149721200	Weak transcription	Aorta	Aorta
10	chr6:149700800-149732800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:149701200-149721200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:149701400-149717400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:149701400-149717800	Weak transcription	Fetal Kidney	kidney
14	chr6:149701400-149721200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:149701400-149730800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:149701400-149734200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:149701600-149733600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:149702400-149718800	Weak transcription	HUVEC	blood vessel
19	chr6:149702400-149721200	Weak transcription	Fetal Brain Female	brain
20	chr6:149703000-149716000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:149703200-149717200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:149703200-149718400	Weak transcription	Thymus	Thymus
23	chr6:149703200-149719200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:149703200-149720400	Weak transcription	Brain Angular Gyrus	brain
25	chr6:149703200-149721200	Weak transcription	Spleen	Spleen
26	chr6:149703400-149720000	Weak transcription	Adipose Nuclei	Adipose
27	chr6:149703400-149721000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:149703400-149721200	Weak transcription	HSMMtube	muscle
29	chr6:149703400-149730600	Weak transcription	Brain Germinal Matrix	brain
30	chr6:149703600-149730400	Weak transcription	NHLF	lung
31	chr6:149704800-149718600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:149705000-149718600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:149705200-149714400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:149705200-149717000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:149705200-149719000	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:149705200-149721200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:149705200-149721200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:149705200-149734600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:149705400-149718800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:149705600-149717400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:149705800-149719000	Weak transcription	NH-A	brain
42	chr6:149707200-149717400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr6:149707400-149721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:149708000-149720400	Weak transcription	Fetal Lung	lung
45	chr6:149708400-149717400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:149709200-149720800	Weak transcription	Brain Anterior Caudate	brain
47	chr6:149709400-149733000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr6:149709600-149714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:149709600-149714000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr6:149709600-149716600	Weak transcription	Brain Substantia Nigra	brain

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