Variant report

Variant	nsv1020442
Chromosome Location	chr7:3378394-3408268
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	chr7:3390810..3392669-chr7:3397273..3399419,2	MCF-7	breast:
2	chr7:3388931..3391698-chr7:3393863..3395884,2	K562	blood:
3	chr7:3390810..3392669-chr7:3397273..3399419,2	MCF-7	breast:
4	chr7:3398782..3400855-chr7:3415548..3417886,2	MCF-7	breast:
5	chr7:3388931..3391698-chr7:3393863..3395884,2	K562	blood:
6	chr7:3385347..3387289-chr7:3389084..3391687,2	K562	blood:
7	chr7:3385347..3387562-chr7:3388126..3390584,2	K562	blood:
8	chr7:3379742..3382229-chr7:3382243..3386040,3	K562	blood:
9	chr7:3385347..3387562-chr7:3388126..3390584,2	K562	blood:
10	chr7:3385347..3387289-chr7:3389084..3391687,2	K562	blood:
11	chr7:3378023..3380579-chr7:3388510..3390019,2	MCF-7	breast:
12	chr7:3381518..3384288-chr7:3389563..3392329,2	MCF-7	breast:
13	chr7:3381518..3384288-chr7:3389563..3392329,2	MCF-7	breast:
14	chr7:3379742..3382229-chr7:3382243..3386040,3	K562	blood:
15	chr7:3349154..3351811-chr7:3384855..3387148,2	MCF-7	breast:
16	chr7:3378023..3380579-chr7:3388510..3390019,2	MCF-7	breast:
17	chr7:3404631..3406335-chr7:3408611..3410804,2	MCF-7	breast:

No data

Extended variants
information (count: 1696 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1696 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112017816	chr7:3378400-3378401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543391859	chr7:3378403-3378404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563044642	chr7:3378413-3378414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139475805	chr7:3378452-3378453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545288786	chr7:3378472-3378473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4363091	chr7:3378490-3378491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376923393	chr7:3378542-3378543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183039990	chr7:3378606-3378607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375099289	chr7:3378612-3378613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4358698	chr7:3378616-3378617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560595739	chr7:3378621-3378622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4443553	chr7:3378635-3378636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs79379724	chr7:3378662-3378663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569864164	chr7:3378675-3378676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73672098	chr7:3378706-3378707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568714074	chr7:3378745-3378746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187784614	chr7:3378785-3378786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571701475	chr7:3378788-3378789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35119914	chr7:3378807-3378808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150862666	chr7:3378808-3378809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71550398	chr7:3378813-3378814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59872233	chr7:3378814-3378815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13231665	chr7:3378815-3378816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368792315	chr7:3378819-3378820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374628038	chr7:3378822-3378823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377736937	chr7:3378824-3378825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149122021	chr7:3378894-3378895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115679596	chr7:3378903-3378904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73290066	chr7:3378932-3378933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182433650	chr7:3378973-3378974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187951115	chr7:3379023-3379024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572801305	chr7:3379068-3379069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192427958	chr7:3379078-3379079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545567080	chr7:3379087-3379088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546457189	chr7:3379098-3379099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556540056	chr7:3379115-3379116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565378028	chr7:3379157-3379158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143183421	chr7:3379196-3379197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113942049	chr7:3379201-3379202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560656813	chr7:3379206-3379207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529605478	chr7:3379237-3379238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543071618	chr7:3379244-3379245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73290068	chr7:3379256-3379257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs201284484	chr7:3379276-3379277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144094184	chr7:3379278-3379279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113509786	chr7:3379281-3379282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532340764	chr7:3379288-3379289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28817327	chr7:3379314-3379315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575981455	chr7:3379318-3379319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570337918	chr7:3379353-3379354	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
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

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	chr7:3377400-3378400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:3377400-3378600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr7:3378600-3383200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:3383200-3384200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr7:3384200-3389800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:3385400-3385800	Enhancers	Brain Anterior Caudate	brain
9	chr7:3385800-3386000	Enhancers	Pancreas	Pancrea
10	chr7:3385800-3386200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:3386000-3388800	Weak transcription	Aorta	Aorta
12	chr7:3386000-3410400	Weak transcription	Pancreas	Pancrea
13	chr7:3386200-3408200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:3389800-3392400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:3392400-3395400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:3393600-3402600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:3395400-3396200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:3395600-3396000	Enhancers	Colon Smooth Muscle	Colon
19	chr7:3396200-3402200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:3397200-3397400	Enhancers	Aorta	Aorta
21	chr7:3397400-3398600	Weak transcription	Aorta	Aorta
22	chr7:3398000-3398800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:3398200-3399600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:3398400-3398800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:3398400-3400200	Weak transcription	Right Ventricle	heart
26	chr7:3398600-3399000	Enhancers	Aorta	Aorta
27	chr7:3398600-3399600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:3398800-3403200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:3399000-3402600	Weak transcription	Aorta	Aorta
30	chr7:3400200-3400400	Enhancers	Right Ventricle	heart
31	chr7:3401200-3403200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:3402200-3403000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr7:3402600-3403400	Enhancers	Aorta	Aorta
34	chr7:3402600-3403600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:3403200-3403600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:3403200-3403600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:3403200-3403600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:3403200-3403600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:3403200-3403600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:3403200-3403600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:3403200-3403600	Enhancers	Fetal Brain Male	brain
42	chr7:3403400-3408200	Weak transcription	Aorta	Aorta
43	chr7:3403600-3407200	Weak transcription	Fetal Brain Male	brain
44	chr7:3406000-3406400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr7:3406400-3409600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:3407000-3407200	Enhancers	Colon Smooth Muscle	Colon
47	chr7:3407000-3408000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr7:3407200-3407600	Enhancers	HSMMtube	muscle
49	chr7:3407200-3408200	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:3407200-3411800	Enhancers	Fetal Brain Male	brain

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