Variant report

Variant	esv3439107
Chromosome Location	chr7:4301251-4303999
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	chr7:4287888..4289875-chr7:4302608..4305550,2	MCF-7	breast:
2	chr7:4302968..4305028-chr7:4309435..4311444,2	MCF-7	breast:

Extended variants
information (count: 180 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79282649	chr7:4301270-4301271	Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs76550549	chr7:4301313-4301314	Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs557721261	chr7:4301314-4301315	Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191828011	chr7:4301340-4301341	Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs182675670	chr7:4301344-4301345	Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs142189919	chr7:4301347-4301348	Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs560656175	chr7:4301354-4301355	Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs529613762	chr7:4301369-4301370	Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs542780347	chr7:4301383-4301384	Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562752116	chr7:4301388-4301389	Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531648704	chr7:4301418-4301419	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs35863749	chr7:4301420-4301421	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs571609540	chr7:4301431-4301432	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs78950093	chr7:4301472-4301473	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs4554373	chr7:4301503-4301504	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs73671405	chr7:4301505-4301506	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6947700	chr7:4301513-4301514	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536563833	chr7:4301519-4301520	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs556351091	chr7:4301577-4301578	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs186945118	chr7:4301594-4301595	Genic enhancers Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs538733885	chr7:4301636-4301637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34610558	chr7:4301651-4301652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558409891	chr7:4301708-4301709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191387219	chr7:4301710-4301711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540642605	chr7:4301717-4301718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34278493	chr7:4301722-4301723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145067738	chr7:4301731-4301732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542917593	chr7:4301748-4301749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562741953	chr7:4301794-4301795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576272620	chr7:4301803-4301804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545084750	chr7:4301845-4301846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565265691	chr7:4301915-4301916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527804951	chr7:4301929-4301930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574502415	chr7:4301931-4301932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13222676	chr7:4301935-4301936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs146806872	chr7:4301947-4301948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140465058	chr7:4301970-4301971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74361499	chr7:4301980-4301981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569856431	chr7:4301997-4301998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367980018	chr7:4302012-4302013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6963119	chr7:4302038-4302039	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552227262	chr7:4302050-4302051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150397645	chr7:4302053-4302054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73303726	chr7:4302056-4302057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs75577062	chr7:4302076-4302077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113443546	chr7:4302102-4302103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80342735	chr7:4302106-4302107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34837208	chr7:4302154-4302155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536541665	chr7:4302209-4302210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556476837	chr7:4302217-4302218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4287600-4304200	Weak transcription	Gastric	stomach
2	chr7:4289200-4304000	Weak transcription	Pancreas	Pancrea
3	chr7:4291400-4304200	Weak transcription	Aorta	Aorta
4	chr7:4294800-4311800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:4298200-4307400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:4299400-4301400	Enhancers	Fetal Muscle Leg	muscle
7	chr7:4300400-4301600	Enhancers	Colon Smooth Muscle	Colon
8	chr7:4300600-4301400	Enhancers	HSMMtube	muscle
9	chr7:4300600-4301600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:4300600-4301600	Enhancers	Ovary	ovary
11	chr7:4300600-4302000	Enhancers	Brain Germinal Matrix	brain
12	chr7:4300800-4301400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:4300800-4301400	Enhancers	Colonic Mucosa	Colon
14	chr7:4300800-4301400	Enhancers	Fetal Intestine Large	intestine
15	chr7:4300800-4301600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:4300800-4301600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:4300800-4301600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:4301000-4301400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:4301000-4301600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr7:4301000-4301600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr7:4301000-4301600	Enhancers	Rectal Smooth Muscle	rectum
22	chr7:4301000-4301800	Enhancers	Fetal Lung	lung
23	chr7:4301200-4301400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:4301200-4301400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:4301200-4301400	Enhancers	Fetal Brain Female	brain
26	chr7:4301200-4301400	Enhancers	Fetal Intestine Small	intestine
27	chr7:4301200-4301400	Flanking Active TSS	Fetal Stomach	stomach
28	chr7:4301200-4301400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr7:4301200-4301600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:4301200-4301600	Enhancers	Duodenum Mucosa	Duodenum
31	chr7:4301200-4301600	Bivalent Enhancer	Placenta	Placenta
32	chr7:4301200-4301600	Enhancers	Stomach Smooth Muscle	stomach
33	chr7:4301400-4301600	Enhancers	Fetal Brain Male	brain
34	chr7:4301400-4301600	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr7:4301400-4302800	Enhancers	Fetal Stomach	stomach
36	chr7:4301400-4304200	Weak transcription	Fetal Intestine Small	intestine
37	chr7:4301400-4304600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:4301400-4306600	Weak transcription	HSMMtube	muscle
39	chr7:4301600-4304000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:4301600-4304400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:4301600-4304600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:4301600-4306600	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:4301600-4306600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:4301600-4307000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:4301600-4309800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:4302600-4303000	Enhancers	HSMM	muscle
47	chr7:4302800-4303000	Bivalent Enhancer	Fetal Stomach	stomach
48	chr7:4303800-4304200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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