Variant report

Variant	nsv933452
Chromosome Location	chr7:21603688-21609638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:21607583..21608493-chr7:21807066..21807743,2	MCF-7	breast:
2	chr7:21301169..21302003-chr7:21608138..21609127,2	MCF-7	breast:
3	chr7:21608001..21608689-chr7:21806668..21807749,3	MCF-7	breast:
4	chr7:21608400..21610295-chr7:21656188..21658380,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105877	chromatin interactions

Extended variants
information (count: 301 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:301 , 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	rs372029122	chr7:21603699-21603700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536264135	chr7:21603702-21603703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540927392	chr7:21603718-21603719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551031127	chr7:21603735-21603736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372149143	chr7:21603748-21603749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386711106	chr7:21603749-21603750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199762420	chr7:21603750-21603751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72655980	chr7:21603761-21603762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60940743	chr7:21603763-21603764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374963183	chr7:21603765-21603766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376297805	chr7:21603768-21603769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558650704	chr7:21603769-21603770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370125815	chr7:21603776-21603777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372380406	chr7:21603777-21603778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534768165	chr7:21603779-21603780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376448045	chr7:21603811-21603812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550602612	chr7:21603812-21603813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370925563	chr7:21603823-21603824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562105878	chr7:21603824-21603825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374332166	chr7:21603827-21603828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368303495	chr7:21603844-21603845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374709174	chr7:21603845-21603846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367840885	chr7:21603850-21603851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139391790	chr7:21603856-21603857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371654954	chr7:21603863-21603864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201475447	chr7:21603874-21603875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200824684	chr7:21603876-21603877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4392792	chr7:21603886-21603887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189175047	chr7:21603929-21603930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372700740	chr7:21603937-21603938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559771489	chr7:21603941-21603942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528684070	chr7:21603945-21603946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375636554	chr7:21603954-21603955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369736250	chr7:21603960-21603961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200648006	chr7:21603968-21603969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374949958	chr7:21603998-21603999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369098179	chr7:21604001-21604002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372562850	chr7:21604004-21604005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181549625	chr7:21604042-21604043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74430471	chr7:21604072-21604073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34980308	chr7:21604091-21604092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369864320	chr7:21604094-21604095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531229011	chr7:21604142-21604143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549830964	chr7:21604162-21604163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569682890	chr7:21604181-21604182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549433147	chr7:21604210-21604211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566058557	chr7:21604236-21604237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532116306	chr7:21604259-21604260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535144450	chr7:21604304-21604305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551989257	chr7:21604323-21604324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21591400-21605000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:21591400-21610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:21591400-21610600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:21591400-21627000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:21591800-21604000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:21593800-21604800	Weak transcription	Liver	Liver
7	chr7:21595800-21605400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:21599400-21608600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:21601800-21622600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:21604800-21605400	Enhancers	Liver	Liver
11	chr7:21605200-21606000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:21605400-21606000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:21605400-21606000	Flanking Active TSS	Liver	Liver
14	chr7:21606000-21608000	Enhancers	Liver	Liver
15	chr7:21608000-21608400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:21608000-21609400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:21608200-21608800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:21608400-21609800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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