Variant report

Variant	esv3428700
Chromosome Location	chr7:5650664-5650951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5650427..5652222-chr7:5660370..5662038,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73334491	chr7:5650688-5650689	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193300739	chr7:5650702-5650703	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs73334493	chr7:5650713-5650714	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140979989	chr7:5650723-5650724	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs11981525	chr7:5650725-5650726	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372124385	chr7:5650757-5650758	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs562219459	chr7:5650770-5650771	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs185469897	chr7:5650772-5650773	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2908430	chr7:5650785-5650786	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546519568	chr7:5650807-5650808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564701206	chr7:5650824-5650825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2908429	chr7:5650826-5650827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550668414	chr7:5650831-5650832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562416435	chr7:5650859-5650860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs59787624	chr7:5650865-5650866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373851047	chr7:5650897-5650898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs36076848	chr7:5650930-5650931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529696600	chr7:5650933-5650934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5636200-5662000	Weak transcription	Fetal Kidney	kidney
2	chr7:5636600-5661400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:5636800-5661200	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:5638400-5659000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:5638800-5661200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:5638800-5671000	Weak transcription	Right Atrium	heart
7	chr7:5639000-5655200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:5639000-5661200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:5641600-5659000	Weak transcription	Thymus	Thymus
10	chr7:5642200-5653400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:5642800-5664800	Weak transcription	Hela-S3	cervix
12	chr7:5643600-5660000	Weak transcription	Colonic Mucosa	Colon
13	chr7:5643800-5653200	Weak transcription	HSMMtube	muscle
14	chr7:5643800-5660400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:5643800-5661200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:5644000-5659200	Weak transcription	Pancreas	Pancrea
17	chr7:5645000-5655200	Weak transcription	Gastric	stomach
18	chr7:5645000-5661200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:5645000-5661400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:5645000-5662000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:5645000-5662200	Weak transcription	GM12878-XiMat	blood
22	chr7:5645200-5652400	Weak transcription	Brain Substantia Nigra	brain
23	chr7:5645200-5659000	Weak transcription	Aorta	Aorta
24	chr7:5645400-5658600	Weak transcription	Fetal Intestine Large	intestine
25	chr7:5645400-5661000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:5645600-5658400	Weak transcription	Osteobl	bone
27	chr7:5645600-5662000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:5645800-5661200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:5646800-5659400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:5647000-5661600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:5647200-5654600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:5647200-5659000	Weak transcription	HSMM	muscle
33	chr7:5647200-5661600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:5647200-5663000	Weak transcription	NH-A	brain
35	chr7:5647400-5653800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:5647400-5659000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:5647400-5659200	Weak transcription	Brain Angular Gyrus	brain
38	chr7:5647400-5660000	Weak transcription	Ovary	ovary
39	chr7:5647400-5662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:5647600-5673200	Weak transcription	Fetal Brain Male	brain
41	chr7:5647800-5655200	Weak transcription	Brain Anterior Caudate	brain
42	chr7:5647800-5659000	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:5647800-5661200	Weak transcription	NHDF-Ad	bronchial
44	chr7:5648000-5659000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:5648200-5655400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:5648200-5659000	Weak transcription	Right Ventricle	heart
47	chr7:5648400-5653400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:5648400-5654000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:5648400-5655000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:5648400-5655000	Weak transcription	Brain Germinal Matrix	brain

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