Variant report

Variant	nsv605894
Chromosome Location	chr7:3381789-3413867
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3385347..3387562-chr7:3388126..3390584,2	K562	blood:
2	chr7:3388931..3391698-chr7:3393863..3395884,2	K562	blood:
3	chr7:3385347..3387289-chr7:3389084..3391687,2	K562	blood:
4	chr7:3379742..3382229-chr7:3382243..3386040,3	K562	blood:
5	chr7:3390810..3392669-chr7:3397273..3399419,2	MCF-7	breast:
6	chr7:3385347..3387562-chr7:3388126..3390584,2	K562	blood:
7	chr7:3385347..3387289-chr7:3389084..3391687,2	K562	blood:
8	chr7:3378023..3380579-chr7:3388510..3390019,2	MCF-7	breast:
9	chr7:3381518..3384288-chr7:3389563..3392329,2	MCF-7	breast:
10	chr7:3388931..3391698-chr7:3393863..3395884,2	K562	blood:
11	chr7:3349154..3351811-chr7:3384855..3387148,2	MCF-7	breast:
12	chr7:3379742..3382229-chr7:3382243..3386040,3	K562	blood:
13	chr7:3404631..3406335-chr7:3408611..3410804,2	MCF-7	breast:
14	chr7:3404631..3406335-chr7:3408611..3410804,2	MCF-7	breast:
15	chr7:3398782..3400855-chr7:3415548..3417886,2	MCF-7	breast:
16	chr7:3390810..3392669-chr7:3397273..3399419,2	MCF-7	breast:
17	chr7:3381518..3384288-chr7:3389563..3392329,2	MCF-7	breast:

No data

Extended variants
information (count: 1815 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1815 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4719894	chr7:3381789-3381790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553024971	chr7:3381828-3381829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573029552	chr7:3381837-3381838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541806214	chr7:3381850-3381851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562153772	chr7:3381854-3381855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149754433	chr7:3381877-3381878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188110671	chr7:3381908-3381909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564639681	chr7:3381942-3381943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113100763	chr7:3381948-3381949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191420403	chr7:3381955-3381956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566554771	chr7:3381959-3381960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568021327	chr7:3381980-3381981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373735003	chr7:3381986-3381987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182313172	chr7:3382010-3382011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187725845	chr7:3382034-3382035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192567607	chr7:3382038-3382039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199749667	chr7:3382047-3382048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557999764	chr7:3382048-3382049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529444449	chr7:3382076-3382077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571232511	chr7:3382081-3382082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533719611	chr7:3382124-3382125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553585230	chr7:3382135-3382136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572992782	chr7:3382155-3382156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184435819	chr7:3382168-3382169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369323397	chr7:3382174-3382175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555584661	chr7:3382175-3382176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575558767	chr7:3382190-3382191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544301683	chr7:3382197-3382198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547905197	chr7:3382207-3382208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573104285	chr7:3382220-3382221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566324086	chr7:3382241-3382242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10230321	chr7:3382246-3382247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10230335	chr7:3382275-3382276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140352311	chr7:3382287-3382288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540027974	chr7:3382337-3382338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529511894	chr7:3382350-3382351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549024383	chr7:3382353-3382354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144072721	chr7:3382375-3382376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115617732	chr7:3382393-3382394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4722705	chr7:3382408-3382409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190163443	chr7:3382431-3382432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573847156	chr7:3382470-3382471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192974690	chr7:3382477-3382478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547188094	chr7:3382482-3382483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184844074	chr7:3382503-3382504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189772539	chr7:3382517-3382518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59031986	chr7:3382528-3382529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs77332539	chr7:3382542-3382543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4722708	chr7:3382563-3382564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs374008271	chr7:3382609-3382610	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
Urothelial carcinoma	21177765	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
Nasopharyngeal cancer	20548289	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

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3359000-3385800	Weak transcription	Pancreas	Pancrea
2	chr7:3376200-3385800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3378600-3383200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:3383200-3384200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr7:3384200-3389800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:3385400-3385800	Enhancers	Brain Anterior Caudate	brain
7	chr7:3385800-3386000	Enhancers	Pancreas	Pancrea
8	chr7:3385800-3386200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:3386000-3388800	Weak transcription	Aorta	Aorta
10	chr7:3386000-3410400	Weak transcription	Pancreas	Pancrea
11	chr7:3386200-3408200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:3389800-3392400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr7:3392400-3395400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:3393600-3402600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:3395400-3396200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr7:3395600-3396000	Enhancers	Colon Smooth Muscle	Colon
17	chr7:3396200-3402200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:3397200-3397400	Enhancers	Aorta	Aorta
19	chr7:3397400-3398600	Weak transcription	Aorta	Aorta
20	chr7:3398000-3398800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:3398200-3399600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:3398400-3398800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:3398400-3400200	Weak transcription	Right Ventricle	heart
24	chr7:3398600-3399000	Enhancers	Aorta	Aorta
25	chr7:3398600-3399600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:3398800-3403200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:3399000-3402600	Weak transcription	Aorta	Aorta
28	chr7:3400200-3400400	Enhancers	Right Ventricle	heart
29	chr7:3401200-3403200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:3402200-3403000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr7:3402600-3403400	Enhancers	Aorta	Aorta
32	chr7:3402600-3403600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:3403200-3403600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:3403200-3403600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:3403200-3403600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr7:3403200-3403600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:3403200-3403600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:3403200-3403600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:3403200-3403600	Enhancers	Fetal Brain Male	brain
40	chr7:3403400-3408200	Weak transcription	Aorta	Aorta
41	chr7:3403600-3407200	Weak transcription	Fetal Brain Male	brain
42	chr7:3406000-3406400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr7:3406400-3409600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr7:3407000-3407200	Enhancers	Colon Smooth Muscle	Colon
45	chr7:3407000-3408000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr7:3407200-3407600	Enhancers	HSMMtube	muscle
47	chr7:3407200-3408200	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:3407200-3411800	Enhancers	Fetal Brain Male	brain
49	chr7:3408000-3409600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:3408200-3408400	Enhancers	Fetal Brain Female	brain

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