Variant report

Variant	esv14810
Chromosome Location	chr6:74504214-74506345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74490266..74491964-chr6:74504543..74507393,2	K562	blood:
2	chr6:74502515..74505275-chr6:74506661..74508653,2	MCF-7	breast:
3	chr6:74362898..74365450-chr6:74503403..74505344,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119899	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12660627	chr6:74504224-74504225	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145900209	chr6:74504301-74504302	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537425671	chr6:74504358-74504359	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181659794	chr6:74504386-74504387	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574746261	chr6:74504405-74504406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12663597	chr6:74504432-74504433	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138369690	chr6:74504449-74504450	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572262458	chr6:74504470-74504471	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545606235	chr6:74504488-74504489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186846662	chr6:74504489-74504490	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575962154	chr6:74504521-74504522	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572265238	chr6:74504573-74504574	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562255604	chr6:74504574-74504575	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs386702692	chr6:74504585-74504586	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549354868	chr6:74504638-74504639	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541323232	chr6:74504647-74504648	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs17760906	chr6:74504729-74504730	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs35229189	chr6:74504733-74504734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143598130	chr6:74504866-74504867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551599759	chr6:74504889-74504890	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570105829	chr6:74504915-74504916	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12663938	chr6:74504950-74504951	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530812127	chr6:74504958-74504959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs72300103	chr6:74504961-74504962	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs60789593	chr6:74504962-74504963	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549317138	chr6:74504995-74504996	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567653790	chr6:74505032-74505033	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565259204	chr6:74505035-74505036	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7751343	chr6:74505036-74505037	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190340687	chr6:74505040-74505041	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7751669	chr6:74505101-74505102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12663958	chr6:74505111-74505112	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539594390	chr6:74505142-74505143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181098339	chr6:74505143-74505144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148062498	chr6:74505152-74505153	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7751523	chr6:74505157-74505158	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs185356683	chr6:74505163-74505164	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530137263	chr6:74505166-74505167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554992246	chr6:74505224-74505225	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548721646	chr6:74505233-74505234	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs189814353	chr6:74505246-74505247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7751558	chr6:74505258-74505259	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs559671143	chr6:74505281-74505282	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs142510020	chr6:74505302-74505303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs377112575	chr6:74505303-74505304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12663974	chr6:74505309-74505310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146005371	chr6:74505318-74505319	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533369516	chr6:74505321-74505322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12663991	chr6:74505379-74505380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374150626	chr6:74505386-74505387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Lung adenocarcinoma	21935476	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
2	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
3	chr6:74475200-74513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:74476000-74510800	Weak transcription	Fetal Heart	heart
5	chr6:74477400-74543400	Weak transcription	Lung	lung
6	chr6:74484400-74505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:74484600-74507800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:74484600-74508200	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:74484600-74542000	Weak transcription	Right Ventricle	heart
10	chr6:74484800-74508200	Weak transcription	Hela-S3	cervix
11	chr6:74484800-74512600	Weak transcription	HSMM	muscle
12	chr6:74487000-74509600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:74489800-74510000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:74490200-74508200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:74490400-74527800	Weak transcription	Thymus	Thymus
16	chr6:74490600-74507400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:74490800-74507200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:74491600-74508000	Weak transcription	Brain Anterior Caudate	brain
19	chr6:74492400-74510800	Weak transcription	A549	lung
20	chr6:74492600-74504600	Weak transcription	Stomach Mucosa	stomach
21	chr6:74494000-74505400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:74494400-74510800	Weak transcription	Fetal Lung	lung
23	chr6:74494400-74530800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:74495400-74533200	Weak transcription	Fetal Stomach	stomach
25	chr6:74496800-74528800	Weak transcription	Dnd41	blood
26	chr6:74497000-74505200	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr6:74499000-74507000	Weak transcription	NHLF	lung
28	chr6:74499000-74527000	Weak transcription	Fetal Thymus	thymus
29	chr6:74499000-74532600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:74499200-74505400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:74499200-74520200	Weak transcription	NHEK	skin
32	chr6:74499600-74506600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:74499800-74505800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:74500200-74505800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:74500200-74505800	Strong transcription	NHDF-Ad	bronchial
36	chr6:74500600-74506000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:74500600-74525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:74500600-74527600	Weak transcription	Primary T cells from cord blood	blood
39	chr6:74501200-74508000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:74501200-74514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:74501200-74521600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr6:74502400-74504600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:74503200-74506000	Weak transcription	HUVEC	blood vessel
44	chr6:74503200-74506400	Weak transcription	Osteobl	bone
45	chr6:74503200-74520600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr6:74503400-74506400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:74503400-74520400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr6:74503400-74521600	Weak transcription	Left Ventricle	heart
49	chr6:74503400-74530600	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:74503600-74504400	Weak transcription	Primary hematopoietic stem cells	blood

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