Variant report

Variant	nsv605897
Chromosome Location	chr7:3384144-3415946
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..3387289-chr7:3389084..3391687,2	K562	blood:
2	chr7:3385347..3387289-chr7:3389084..3391687,2	K562	blood:
3	chr7:3379742..3382229-chr7:3382243..3386040,3	K562	blood:
4	chr7:3349154..3351811-chr7:3384855..3387148,2	MCF-7	breast:
5	chr7:3378023..3380579-chr7:3388510..3390019,2	MCF-7	breast:
6	chr7:3385347..3387562-chr7:3388126..3390584,2	K562	blood:
7	chr7:3390810..3392669-chr7:3397273..3399419,2	MCF-7	breast:
8	chr7:3381518..3384288-chr7:3389563..3392329,2	MCF-7	breast:
9	chr7:3398782..3400855-chr7:3415548..3417886,2	MCF-7	breast:
10	chr7:3390810..3392669-chr7:3397273..3399419,2	MCF-7	breast:
11	chr7:3404631..3406335-chr7:3408611..3410804,2	MCF-7	breast:
12	chr7:3385347..3387562-chr7:3388126..3390584,2	K562	blood:
13	chr7:3404631..3406335-chr7:3408611..3410804,2	MCF-7	breast:
14	chr7:3388931..3391698-chr7:3393863..3395884,2	K562	blood:
15	chr7:3388931..3391698-chr7:3393863..3395884,2	K562	blood:
16	chr7:3398782..3400855-chr7:3415548..3417886,2	MCF-7	breast:
17	chr7:3381518..3384288-chr7:3389563..3392329,2	MCF-7	breast:

No data

Extended variants
information (count: 1792 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1792 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12700808	chr7:3384144-3384145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142045883	chr7:3384201-3384202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186847358	chr7:3384205-3384206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547536514	chr7:3384206-3384207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542992644	chr7:3384224-3384225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116000054	chr7:3384228-3384229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191735239	chr7:3384230-3384231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550181081	chr7:3384233-3384234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199544609	chr7:3384247-3384248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570002766	chr7:3384275-3384276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71029665	chr7:3384290-3384291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201685542	chr7:3384292-3384293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397709504	chr7:3384296-3384297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201803759	chr7:3384298-3384299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557474302	chr7:3384311-3384312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372624682	chr7:3384317-3384318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34944035	chr7:3384321-3384322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58353140	chr7:3384328-3384329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552452250	chr7:3384341-3384342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541452998	chr7:3384354-3384355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201771289	chr7:3384361-3384362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73048628	chr7:3384367-3384368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs79988434	chr7:3384390-3384391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73290084	chr7:3384399-3384400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368557463	chr7:3384461-3384462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536628421	chr7:3384489-3384490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556958622	chr7:3384497-3384498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183525283	chr7:3384513-3384514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144144978	chr7:3384540-3384541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534096091	chr7:3384547-3384548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146500449	chr7:3384610-3384611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139908692	chr7:3384620-3384621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150019545	chr7:3384627-3384628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188065326	chr7:3384663-3384664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561208207	chr7:3384673-3384674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74951440	chr7:3384677-3384678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180966669	chr7:3384693-3384694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73048630	chr7:3384706-3384707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532378891	chr7:3384726-3384727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62437705	chr7:3384733-3384734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557125112	chr7:3384737-3384738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528655439	chr7:3384752-3384753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376904717	chr7:3384785-3384786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568054729	chr7:3384836-3384837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12673946	chr7:3384837-3384838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs556784022	chr7:3384856-3384857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185644902	chr7:3384863-3384864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539458897	chr7:3384872-3384873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553277565	chr7:3384946-3384947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59940308	chr7:3385011-3385012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:129 , 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	chr7:3383200-3384200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:3384200-3389800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:3385400-3385800	Enhancers	Brain Anterior Caudate	brain
6	chr7:3385800-3386000	Enhancers	Pancreas	Pancrea
7	chr7:3385800-3386200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:3386000-3388800	Weak transcription	Aorta	Aorta
9	chr7:3386000-3410400	Weak transcription	Pancreas	Pancrea
10	chr7:3386200-3408200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:3389800-3392400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:3392400-3395400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:3393600-3402600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:3395400-3396200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:3395600-3396000	Enhancers	Colon Smooth Muscle	Colon
16	chr7:3396200-3402200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:3397200-3397400	Enhancers	Aorta	Aorta
18	chr7:3397400-3398600	Weak transcription	Aorta	Aorta
19	chr7:3398000-3398800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:3398200-3399600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:3398400-3398800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:3398400-3400200	Weak transcription	Right Ventricle	heart
23	chr7:3398600-3399000	Enhancers	Aorta	Aorta
24	chr7:3398600-3399600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:3398800-3403200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:3399000-3402600	Weak transcription	Aorta	Aorta
27	chr7:3400200-3400400	Enhancers	Right Ventricle	heart
28	chr7:3401200-3403200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:3402200-3403000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr7:3402600-3403400	Enhancers	Aorta	Aorta
31	chr7:3402600-3403600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:3403200-3403600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:3403200-3403600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:3403200-3403600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:3403200-3403600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:3403200-3403600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:3403200-3403600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:3403200-3403600	Enhancers	Fetal Brain Male	brain
39	chr7:3403400-3408200	Weak transcription	Aorta	Aorta
40	chr7:3403600-3407200	Weak transcription	Fetal Brain Male	brain
41	chr7:3406000-3406400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr7:3406400-3409600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:3407000-3407200	Enhancers	Colon Smooth Muscle	Colon
44	chr7:3407000-3408000	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr7:3407200-3407600	Enhancers	HSMMtube	muscle
46	chr7:3407200-3408200	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:3407200-3411800	Enhancers	Fetal Brain Male	brain
48	chr7:3408000-3409600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:3408200-3408400	Enhancers	Fetal Brain Female	brain
50	chr7:3408200-3408800	Enhancers	Aorta	Aorta

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