Variant report

Variant	nsv887336
Chromosome Location	chr7:3870810-3934909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3895859..3898107-chr7:3900891..3903068,3	MCF-7	breast:
2	chr7:3869441..3873485-chr7:3874095..3876939,3	MCF-7	breast:
3	chr7:3928899..3931100-chr7:3932118..3934990,2	K562	blood:
4	chr7:3931415..3933843-chr7:3939844..3942061,2	MCF-7	breast:
5	chr7:3895859..3898107-chr7:3900891..3903068,3	MCF-7	breast:
6	chr7:3928899..3931100-chr7:3932118..3934990,2	K562	blood:
7	chr7:3879550..3881787-chr7:3882435..3885278,2	MCF-7	breast:
8	chr7:3869441..3873485-chr7:3874095..3876939,3	MCF-7	breast:
9	chr7:3885725..3887398-chr7:3891256..3893555,2	K562	blood:
10	chr7:3885725..3887398-chr7:3891256..3893555,2	K562	blood:
11	chr7:3879550..3881787-chr7:3882435..3885278,2	MCF-7	breast:

No data

Extended variants
information (count: 3684 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3684 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs768721	chr7:3870810-3870811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185280947	chr7:3870855-3870856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374695582	chr7:3870863-3870864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149785118	chr7:3870872-3870873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190626977	chr7:3870908-3870909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549732840	chr7:3870911-3870912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569738186	chr7:3870933-3870934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6964556	chr7:3870952-3870953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115203888	chr7:3870995-3870996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116742810	chr7:3871005-3871006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534561537	chr7:3871042-3871043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541887320	chr7:3871075-3871076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554429886	chr7:3871083-3871084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377476443	chr7:3871107-3871108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554806743	chr7:3871131-3871132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372315726	chr7:3871164-3871165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182864422	chr7:3871211-3871212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145704717	chr7:3871245-3871246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548977265	chr7:3871257-3871258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17133902	chr7:3871258-3871259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73672198	chr7:3871301-3871302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559221829	chr7:3871306-3871307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546415491	chr7:3871342-3871343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145307745	chr7:3871389-3871390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147916458	chr7:3871436-3871437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528194759	chr7:3871462-3871463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373687388	chr7:3871463-3871464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148524390	chr7:3871525-3871526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188667876	chr7:3871529-3871530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73310054	chr7:3871541-3871542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550090309	chr7:3871542-3871543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367546425	chr7:3871556-3871557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73310056	chr7:3871576-3871577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs76193425	chr7:3871589-3871590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112318119	chr7:3871641-3871642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192357890	chr7:3871682-3871683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535126972	chr7:3871698-3871699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554770270	chr7:3871749-3871750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182832915	chr7:3871753-3871754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537317615	chr7:3871783-3871784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557324597	chr7:3871792-3871793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576762484	chr7:3871799-3871800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187472054	chr7:3871822-3871823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77636908	chr7:3871829-3871830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557857486	chr7:3871882-3871883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572819101	chr7:3871901-3871902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191663543	chr7:3871912-3871913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375995368	chr7:3871989-3871990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530265087	chr7:3872003-3872004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12532040	chr7:3872020-3872021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3848400-3882000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3849400-3880600	Weak transcription	Aorta	Aorta
3	chr7:3861000-3886400	Weak transcription	Pancreas	Pancrea
4	chr7:3872200-3872600	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr7:3872600-3874000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:3873800-3875200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:3874000-3874800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr7:3874000-3875000	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr7:3874200-3887800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:3874400-3875000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:3874600-3875200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:3874600-3875200	Enhancers	NHEK	skin
13	chr7:3876600-3878000	Enhancers	HSMMtube	muscle
14	chr7:3877800-3878000	Enhancers	Spleen	Spleen
15	chr7:3878000-3880600	Weak transcription	Spleen	Spleen
16	chr7:3880600-3880800	Enhancers	Spleen	Spleen
17	chr7:3880600-3881200	Strong transcription	Aorta	Aorta
18	chr7:3880800-3888600	Weak transcription	Spleen	Spleen
19	chr7:3881200-3881600	Weak transcription	Aorta	Aorta
20	chr7:3881600-3882200	Strong transcription	Aorta	Aorta
21	chr7:3882000-3882200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:3882000-3882800	Enhancers	Fetal Muscle Trunk	muscle
23	chr7:3882200-3882400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:3882200-3882800	Enhancers	Adipose Nuclei	Adipose
25	chr7:3882200-3886400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:3882200-3894400	Weak transcription	Aorta	Aorta
27	chr7:3882600-3883000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:3882800-3883800	Weak transcription	Adipose Nuclei	Adipose
29	chr7:3884000-3884200	Enhancers	Adipose Nuclei	Adipose
30	chr7:3884000-3884400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr7:3884400-3885400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:3885200-3886000	Enhancers	Fetal Brain Female	brain
33	chr7:3885400-3885600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:3886400-3886600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:3886400-3886600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:3886400-3886600	Bivalent Enhancer	Lung	lung
37	chr7:3886400-3886600	Enhancers	Pancreas	Pancrea
38	chr7:3886600-3887000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:3886600-3894600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:3894400-3894800	ZNF genes & repeats	Aorta	Aorta
41	chr7:3894600-3894800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:3894800-3900600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:3894800-3901600	Weak transcription	Aorta	Aorta
44	chr7:3898200-3901000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:3898800-3899000	Enhancers	Lung	lung
46	chr7:3899200-3900600	Weak transcription	Lung	lung
47	chr7:3900200-3902600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:3900600-3901000	Enhancers	Right Atrium	heart
49	chr7:3900600-3901200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:3900600-3901200	Enhancers	Lung	lung

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