Variant report

Variant	nsv887337
Chromosome Location	chr7:3886254-3934909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:3895859..3898107-chr7:3900891..3903068,3	MCF-7	breast:
2	chr7:3885725..3887398-chr7:3891256..3893555,2	K562	blood:
3	chr7:3928899..3931100-chr7:3932118..3934990,2	K562	blood:
4	chr7:3928899..3931100-chr7:3932118..3934990,2	K562	blood:
5	chr7:3895859..3898107-chr7:3900891..3903068,3	MCF-7	breast:
6	chr7:3885725..3887398-chr7:3891256..3893555,2	K562	blood:
7	chr7:3931415..3933843-chr7:3939844..3942061,2	MCF-7	breast:

Extended variants
information (count: 2788 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2788 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41871	chr7:3886254-3886255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577432719	chr7:3886273-3886274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114169095	chr7:3886284-3886285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199988636	chr7:3886286-3886287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200786018	chr7:3886296-3886297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138742266	chr7:3886313-3886314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576185259	chr7:3886342-3886343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369178061	chr7:3886398-3886399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545123627	chr7:3886409-3886410	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190327515	chr7:3886435-3886436	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140348292	chr7:3886437-3886438	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544913894	chr7:3886450-3886451	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540479898	chr7:3886465-3886466	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560379767	chr7:3886502-3886503	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114864984	chr7:3886594-3886595	Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182968539	chr7:3886607-3886608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11976915	chr7:3886609-3886610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs77038302	chr7:3886625-3886626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542483131	chr7:3886635-3886636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376466304	chr7:3886669-3886670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568532227	chr7:3886684-3886685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527443914	chr7:3886716-3886717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117321982	chr7:3886738-3886739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79079363	chr7:3886751-3886752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536579606	chr7:3886765-3886766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188129725	chr7:3886772-3886773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117655288	chr7:3886798-3886799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192773918	chr7:3886804-3886805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386709510	chr7:3886811-3886812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6955441	chr7:3886813-3886814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558581318	chr7:3886818-3886819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572062677	chr7:3886838-3886839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540790417	chr7:3886840-3886841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62437953	chr7:3886841-3886842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182751316	chr7:3886848-3886849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187776289	chr7:3886855-3886856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570442025	chr7:3886869-3886870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73674312	chr7:3886881-3886882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531687139	chr7:3886891-3886892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373529877	chr7:3886901-3886902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558113200	chr7:3886964-3886965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376887310	chr7:3886968-3886969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193242772	chr7:3886986-3886987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565348388	chr7:3887020-3887021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527804376	chr7:3887054-3887055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184754551	chr7:3887055-3887056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567504769	chr7:3887072-3887073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530008467	chr7:3887116-3887117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114299155	chr7:3887176-3887177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569974794	chr7:3887183-3887184	Weak transcription	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:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3861000-3886400	Weak transcription	Pancreas	Pancrea
2	chr7:3874200-3887800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:3880800-3888600	Weak transcription	Spleen	Spleen
4	chr7:3882200-3886400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3882200-3894400	Weak transcription	Aorta	Aorta
6	chr7:3886400-3886600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:3886400-3886600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:3886400-3886600	Bivalent Enhancer	Lung	lung
9	chr7:3886400-3886600	Enhancers	Pancreas	Pancrea
10	chr7:3886600-3887000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:3886600-3894600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:3894400-3894800	ZNF genes & repeats	Aorta	Aorta
13	chr7:3894600-3894800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:3894800-3900600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:3894800-3901600	Weak transcription	Aorta	Aorta
16	chr7:3898200-3901000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:3898800-3899000	Enhancers	Lung	lung
18	chr7:3899200-3900600	Weak transcription	Lung	lung
19	chr7:3900200-3902600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:3900600-3901000	Enhancers	Right Atrium	heart
21	chr7:3900600-3901200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:3900600-3901200	Enhancers	Lung	lung
23	chr7:3900600-3901600	Enhancers	Fetal Lung	lung
24	chr7:3900600-3902000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:3900600-3902200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:3900600-3902200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:3900600-3902400	Enhancers	Colon Smooth Muscle	Colon
28	chr7:3900600-3902800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr7:3900600-3902800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:3900800-3901200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:3900800-3901800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:3900800-3902200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:3901000-3901200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:3901000-3901200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:3901000-3901200	Enhancers	Pancreas	Pancrea
36	chr7:3901000-3901400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:3901000-3901400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:3901000-3901400	Weak transcription	Right Atrium	heart
39	chr7:3901000-3901600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:3901000-3901800	Enhancers	HSMMtube	muscle
41	chr7:3901000-3902000	Enhancers	Fetal Stomach	stomach
42	chr7:3901000-3902400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:3901000-3902400	Enhancers	Adipose Nuclei	Adipose
44	chr7:3901000-3902600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:3901000-3902800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr7:3901000-3902800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr7:3901200-3901600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:3901200-3901600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:3901200-3901800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:3901200-3901800	Enhancers	Brain Germinal Matrix	brain

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