Variant report

Variant	nsv981424
Chromosome Location	chr7:4196798-4199079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:4195210..4197944-chr7:4502921..4505536,2	MCF-7	breast:

Extended variants
information (count: 171 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146291387	chr7:4196815-4196816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141517763	chr7:4196876-4196877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537859222	chr7:4196879-4196880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369977955	chr7:4196883-4196884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539453984	chr7:4196887-4196888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376832165	chr7:4196890-4196891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374948369	chr7:4196925-4196926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139782313	chr7:4196940-4196941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73035590	chr7:4196951-4196952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9297129	chr7:4196968-4196969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs202119924	chr7:4196972-4196973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386709541	chr7:4196974-4196975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370682078	chr7:4196975-4196976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9297131	chr7:4196976-4196977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13312136	chr7:4196978-4196979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111853434	chr7:4196979-4196980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370368613	chr7:4196988-4196989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9297132	chr7:4196990-4196991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9297133	chr7:4196991-4196992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13231879	chr7:4196998-4196999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373784190	chr7:4197005-4197006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9297134	chr7:4197006-4197007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367664479	chr7:4197007-4197008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371590896	chr7:4197011-4197012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191124828	chr7:4197014-4197015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13312187	chr7:4197046-4197047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568282435	chr7:4197059-4197060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370903120	chr7:4197060-4197061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531033296	chr7:4197063-4197064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116980343	chr7:4197067-4197068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571866662	chr7:4197070-4197071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113367098	chr7:4197080-4197081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28727581	chr7:4197083-4197084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200220368	chr7:4197092-4197093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372839809	chr7:4197097-4197098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143629733	chr7:4197107-4197108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570868008	chr7:4197108-4197109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77802264	chr7:4197109-4197110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376827178	chr7:4197110-4197111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546675348	chr7:4197111-4197112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200109726	chr7:4197114-4197115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376575389	chr7:4197121-4197122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79853812	chr7:4197150-4197151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10236069	chr7:4197151-4197152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs146517011	chr7:4197161-4197162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377061147	chr7:4197162-4197163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371007212	chr7:4197172-4197173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs604403	chr7:4197191-4197192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs604400	chr7:4197197-4197198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs631709	chr7:4197227-4197228	Weak transcription Enhancers	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
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
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4169200-4228200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:4184800-4198800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:4185000-4227800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:4185400-4196800	Weak transcription	Adipose Nuclei	Adipose
5	chr7:4185400-4196800	Weak transcription	Fetal Brain Male	brain
6	chr7:4185400-4198600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:4185600-4198800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:4188200-4198600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:4188200-4211200	Weak transcription	Brain Germinal Matrix	brain
10	chr7:4189200-4217000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:4189600-4228400	Weak transcription	Fetal Brain Female	brain
12	chr7:4189800-4198400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:4190200-4197800	Weak transcription	Spleen	Spleen
14	chr7:4191400-4215200	Weak transcription	Aorta	Aorta
15	chr7:4191800-4198000	Weak transcription	Fetal Stomach	stomach
16	chr7:4192000-4197400	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:4192000-4198000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:4192200-4200600	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:4195200-4197000	Enhancers	HepG2	liver
20	chr7:4195800-4197400	Enhancers	Fetal Muscle Trunk	muscle
21	chr7:4195800-4203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:4196200-4197000	Weak transcription	Pancreas	Pancrea
23	chr7:4196200-4197400	Weak transcription	Fetal Intestine Small	intestine
24	chr7:4196400-4216000	Weak transcription	Fetal Lung	lung
25	chr7:4196400-4219600	Weak transcription	Fetal Intestine Large	intestine
26	chr7:4196800-4197000	Enhancers	Adipose Nuclei	Adipose
27	chr7:4197000-4197200	Enhancers	Pancreas	Pancrea
28	chr7:4197000-4197400	Weak transcription	Adipose Nuclei	Adipose
29	chr7:4197200-4197400	Enhancers	Fetal Brain Male	brain
30	chr7:4197200-4197600	Weak transcription	Pancreas	Pancrea
31	chr7:4197400-4197800	Enhancers	Adipose Nuclei	Adipose
32	chr7:4197400-4199000	Strong transcription	Fetal Intestine Small	intestine
33	chr7:4197400-4199400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr7:4197400-4203800	Enhancers	Fetal Muscle Leg	muscle
35	chr7:4197600-4201800	Enhancers	Pancreas	Pancrea
36	chr7:4197800-4199000	Strong transcription	Spleen	Spleen
37	chr7:4198000-4198600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:4198000-4199400	Strong transcription	Fetal Stomach	stomach
39	chr7:4198400-4198600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr7:4198400-4199400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:4198600-4200400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:4198600-4200600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr7:4198600-4200600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:4198600-4200600	Enhancers	NHEK	skin
45	chr7:4198600-4201400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:4198600-4202200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:4198800-4199000	Enhancers	Stomach Smooth Muscle	stomach
48	chr7:4198800-4199400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:4198800-4200400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:4198800-4200600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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