Variant report

Variant	esv3445337
Chromosome Location	chr6:74298574-74299171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74222337..74233828-chr6:74292949..74298961,33	K562	blood:
2	chr6:74296197..74298835-chr6:74300941..74302444,2	MCF-7	breast:
3	chr6:74293866..74296330-chr6:74299032..74301515,2	K562	blood:
4	chr6:74220978..74235626-chr6:74283533..74299827,68	K562	blood:
5	chr6:74289354..74292208-chr6:74297018..74299790,3	MCF-7	breast:
6	chr6:74288220..74292842-chr6:74293561..74299022,14	K562	blood:

Variant related genes	Relation type
ENSG00000229862	chromatin interactions
ENSG00000156508	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397888353	chr6:74298574-74298575	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201151216	chr6:74298575-74298576	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11320002	chr6:74298579-74298580	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs572966314	chr6:74298635-74298636	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544477177	chr6:74298667-74298668	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs570864041	chr6:74298670-74298671	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs62438424	chr6:74298708-74298709	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189609878	chr6:74298730-74298731	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564852534	chr6:74298770-74298771	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576947068	chr6:74298797-74298798	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs970092	chr6:74298866-74298867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201217815	chr6:74298885-74298886	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs374774689	chr6:74298904-74298905	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs563010086	chr6:74298905-74298906	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550126574	chr6:74298932-74298933	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs530423415	chr6:74298933-74298934	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs115505500	chr6:74298934-74298935	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560775521	chr6:74298935-74298936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs527760723	chr6:74298952-74298953	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs780070	chr6:74298964-74298965	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs142617114	chr6:74298989-74298990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs71000134	chr6:74299036-74299037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs61040201	chr6:74299047-74299048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs535782814	chr6:74299058-74299059	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs554838723	chr6:74299073-74299074	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs550152485	chr6:74299092-74299093	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs553333539	chr6:74299135-74299136	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs549445718	chr6:74299137-74299138	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs369746949	chr6:74299138-74299139	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
Breast cancer	21364760	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
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74289400-74302200	Weak transcription	Spleen	Spleen
2	chr6:74289400-74304000	Weak transcription	Right Ventricle	heart
3	chr6:74289600-74309600	Weak transcription	Lung	lung
4	chr6:74289600-74323800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:74289800-74301400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:74290600-74305800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:74290600-74318400	Weak transcription	Small Intestine	intestine
8	chr6:74290600-74338800	Weak transcription	Ovary	ovary
9	chr6:74291000-74307200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:74291000-74315800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:74291000-74323600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:74295200-74302600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:74295200-74303200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:74295200-74321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:74296000-74299400	Weak transcription	Placenta	Placenta
16	chr6:74296000-74317200	Weak transcription	Fetal Brain Female	brain
17	chr6:74296200-74317800	Weak transcription	Colonic Mucosa	Colon
18	chr6:74296200-74317800	Weak transcription	Gastric	stomach
19	chr6:74296200-74322200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:74296200-74322400	Weak transcription	Brain Germinal Matrix	brain
21	chr6:74296200-74332000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:74296400-74302600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:74296400-74302600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:74296400-74302600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:74296400-74302600	Weak transcription	Thymus	Thymus
26	chr6:74296400-74303200	Weak transcription	Fetal Stomach	stomach
27	chr6:74296400-74307200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:74296400-74307200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:74296400-74307400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr6:74296400-74309000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:74296400-74309000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:74296400-74316000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:74296400-74316400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:74296400-74318400	Weak transcription	Aorta	Aorta
35	chr6:74296400-74318400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:74296400-74325800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:74296400-74354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:74296400-74354800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr6:74296400-74355000	Weak transcription	Fetal Brain Male	brain
40	chr6:74296600-74299800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:74296600-74302200	Weak transcription	Left Ventricle	heart
42	chr6:74296600-74302200	Weak transcription	NHDF-Ad	bronchial
43	chr6:74296600-74302600	Weak transcription	Adipose Nuclei	Adipose
44	chr6:74296600-74302600	Weak transcription	Fetal Intestine Small	intestine
45	chr6:74296600-74302600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr6:74296600-74302600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:74296600-74303200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:74296600-74303600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:74296600-74304200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:74296600-74304200	Weak transcription	NHLF	lung

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