Variant report

Variant	nsv519403
Chromosome Location	chr7:3932922-3939055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2904504..2905327-chr7:3936730..3937942,4	K562	blood:
2	chr7:3937855..3940563-chr7:3945183..3947294,2	MCF-7	breast:
3	chr7:3928899..3931100-chr7:3932118..3934990,2	K562	blood:
4	chr7:3734945..3735889-chr7:3936899..3937757,3	MCF-7	breast:
5	chr7:3931415..3933843-chr7:3939844..3942061,2	MCF-7	breast:
6	chr7:3340173..3341123-chr7:3936740..3937675,3	MCF-7	breast:
7	chr7:3443032..3445719-chr7:3938528..3940389,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146555	chromatin interactions

Extended variants
information (count: 320 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6971828	chr7:3932922-3932923	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190063148	chr7:3932932-3932933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555915737	chr7:3932953-3932954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370019949	chr7:3932969-3932970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182806437	chr7:3932972-3932973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374308251	chr7:3933004-3933005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111760851	chr7:3933007-3933008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144737544	chr7:3933026-3933027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571968385	chr7:3933046-3933047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569496713	chr7:3933073-3933074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561013950	chr7:3933074-3933075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188274367	chr7:3933081-3933082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148521869	chr7:3933090-3933091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563037499	chr7:3933144-3933145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531933497	chr7:3933160-3933161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552002241	chr7:3933204-3933205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571558600	chr7:3933209-3933210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73294633	chr7:3933237-3933238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142836234	chr7:3933273-3933274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567445719	chr7:3933275-3933276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536315823	chr7:3933276-3933277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115560246	chr7:3933306-3933307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574348372	chr7:3933307-3933308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533653621	chr7:3933318-3933319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371565799	chr7:3933327-3933328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569467170	chr7:3933366-3933367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538568813	chr7:3933389-3933390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541810612	chr7:3933403-3933404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547608203	chr7:3933407-3933408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560144856	chr7:3933452-3933453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572248610	chr7:3933456-3933457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541049820	chr7:3933462-3933463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182990613	chr7:3933532-3933533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188693626	chr7:3933542-3933543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376678029	chr7:3933635-3933636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527594812	chr7:3933661-3933662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369431359	chr7:3933688-3933689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371340134	chr7:3933712-3933713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545563883	chr7:3933730-3933731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543515731	chr7:3933831-3933832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563075129	chr7:3933889-3933890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531891769	chr7:3933949-3933950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11973380	chr7:3933967-3933968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565616665	chr7:3934009-3934010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527953918	chr7:3934015-3934016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547419812	chr7:3934038-3934039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567297595	chr7:3934040-3934041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531438408	chr7:3934043-3934044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530139599	chr7:3934052-3934053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549825003	chr7:3934060-3934061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Ependymoma	20639864	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3901200-3959600	Weak transcription	Pancreas	Pancrea
2	chr7:3906800-3949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3923000-3940000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:3925800-3937600	Weak transcription	Spleen	Spleen
5	chr7:3926800-3936000	Weak transcription	Aorta	Aorta
6	chr7:3930600-3934200	Enhancers	Fetal Brain Male	brain
7	chr7:3931200-3934400	Enhancers	Fetal Muscle Leg	muscle
8	chr7:3931600-3933000	Enhancers	Brain Hippocampus Middle	brain
9	chr7:3931800-3933600	Enhancers	Psoas Muscle	Psoas
10	chr7:3931800-3934200	Enhancers	Fetal Muscle Trunk	muscle
11	chr7:3932000-3933400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr7:3932400-3933400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:3932400-3934200	Enhancers	Colon Smooth Muscle	Colon
14	chr7:3932400-3935200	Weak transcription	Fetal Lung	lung
15	chr7:3932600-3933400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:3932600-3939200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:3932800-3936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:3932800-3939200	Weak transcription	Brain Anterior Caudate	brain
19	chr7:3933000-3939200	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:3933200-3935800	Weak transcription	Adipose Nuclei	Adipose
21	chr7:3933400-3934000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:3933400-3934200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:3933400-3934200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr7:3933600-3935800	Weak transcription	Psoas Muscle	Psoas
25	chr7:3934000-3934200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr7:3934200-3935000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:3934200-3935800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:3934200-3935800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:3934200-3936000	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:3934200-3937200	Weak transcription	Fetal Brain Male	brain
31	chr7:3934400-3935200	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:3935000-3940200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr7:3935200-3937000	Enhancers	Fetal Lung	lung
34	chr7:3935200-3937800	Enhancers	Fetal Muscle Leg	muscle
35	chr7:3935600-3936200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:3935800-3936200	Enhancers	Fetal Stomach	stomach
37	chr7:3935800-3936400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:3935800-3936400	Enhancers	Fetal Muscle Trunk	muscle
39	chr7:3935800-3936600	Enhancers	Adipose Nuclei	Adipose
40	chr7:3935800-3937600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:3935800-3937800	Enhancers	Psoas Muscle	Psoas
42	chr7:3935800-3939400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr7:3936000-3936200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:3936000-3936800	Enhancers	Aorta	Aorta
45	chr7:3936000-3937000	Enhancers	Colon Smooth Muscle	Colon
46	chr7:3936200-3936400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:3936200-3939000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:3936600-3937000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr7:3936800-3974200	Weak transcription	Aorta	Aorta
50	chr7:3937200-3937400	Enhancers	Fetal Brain Male	brain

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