Variant report

Variant	esv3397073
Chromosome Location	chr7:3993526-3994724
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	chr7:3991662..3993972-chr7:3998334..4001019,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368267903	chr7:3993531-3993532	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545685088	chr7:3993533-3993534	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565559647	chr7:3993577-3993578	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527715566	chr7:3993589-3993590	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567662478	chr7:3993599-3993600	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139083895	chr7:3993604-3993605	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549583713	chr7:3993607-3993608	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149885310	chr7:3993660-3993661	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538430848	chr7:3993700-3993701	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200194774	chr7:3993746-3993747	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11382390	chr7:3993747-3993748	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397946840	chr7:3993750-3993751	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181787725	chr7:3993799-3993800	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558607153	chr7:3993804-3993805	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374356003	chr7:3993810-3993811	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201750957	chr7:3993819-3993820	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565959740	chr7:3993826-3993827	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113533463	chr7:3993881-3993882	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112918322	chr7:3993884-3993885	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4723293	chr7:3993902-3993903	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28590324	chr7:3993913-3993914	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4723294	chr7:3993923-3993924	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190520521	chr7:3993926-3993927	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28417428	chr7:3993929-3993930	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182439484	chr7:3993940-3993941	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534361176	chr7:3993954-3993955	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568634067	chr7:3993958-3993959	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554509780	chr7:3994028-3994029	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62439585	chr7:3994030-3994031	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113583112	chr7:3994031-3994032	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556619291	chr7:3994049-3994050	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185544931	chr7:3994075-3994076	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568356676	chr7:3994084-3994085	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189653735	chr7:3994106-3994107	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182683621	chr7:3994113-3994114	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367578887	chr7:3994121-3994122	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546104884	chr7:3994124-3994125	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199616541	chr7:3994147-3994148	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371850478	chr7:3994204-3994205	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556812172	chr7:3994210-3994211	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567405155	chr7:3994223-3994224	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573119428	chr7:3994230-3994231	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557890565	chr7:3994237-3994238	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565488874	chr7:3994238-3994239	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572656272	chr7:3994246-3994247	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541068573	chr7:3994256-3994257	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540131638	chr7:3994284-3994285	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147567730	chr7:3994289-3994290	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543111519	chr7:3994303-3994304	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549896620	chr7:3994306-3994307	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3987600-3995200	Weak transcription	Esophagus	oesophagus
2	chr7:3988400-4005400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:3988600-4010000	Weak transcription	Left Ventricle	heart
4	chr7:3988600-4032600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:3988800-3994200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:3988800-3995000	Weak transcription	Spleen	Spleen
7	chr7:3988800-4001600	Weak transcription	Right Atrium	heart
8	chr7:3989000-3995000	Weak transcription	HSMM	muscle
9	chr7:3989000-3995200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:3989200-3995000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:3989200-4013800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:3989400-3997400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:3989400-4031000	Weak transcription	Right Ventricle	heart
14	chr7:3989800-4002400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:3989800-4020800	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:3990000-3999800	Weak transcription	Fetal Brain Male	brain
17	chr7:3990200-3995000	Weak transcription	HSMMtube	muscle
18	chr7:3990200-3995400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:3990600-3995200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:3991200-3995200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:3991400-3994600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:3991400-3994600	Weak transcription	Aorta	Aorta
23	chr7:3991400-3995200	Weak transcription	Fetal Stomach	stomach
24	chr7:3991600-3994600	Weak transcription	Fetal Intestine Small	intestine
25	chr7:3991600-3995200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:3991600-3997800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:3991600-4001400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:3991800-3995800	Enhancers	HepG2	liver
29	chr7:3991800-4001400	Weak transcription	Fetal Brain Female	brain
30	chr7:3992000-3994600	Weak transcription	Pancreas	Pancrea
31	chr7:3992000-3995200	Weak transcription	Fetal Lung	lung
32	chr7:3993200-3996400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:3994200-3994600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:3994400-3994600	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:3994600-3995400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:3994600-3995400	Strong transcription	Aorta	Aorta
37	chr7:3994600-3995400	Strong transcription	Fetal Intestine Small	intestine
38	chr7:3994600-3995600	Enhancers	Lung	lung
39	chr7:3994600-3995600	Strong transcription	Pancreas	Pancrea
40	chr7:3994600-3995800	Enhancers	Fetal Thymus	thymus
41	chr7:3994600-3996000	Enhancers	Fetal Muscle Trunk	muscle
42	chr7:3994600-3997000	Enhancers	Fetal Muscle Leg	muscle
43	chr7:3994600-3997400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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