Variant report

Variant	nsv1017381
Chromosome Location	chr7:80187725-80224314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80198036..80200312-chr7:80208194..80210191,2	MCF-7	breast:
2	chr7:80179936..80183033-chr7:80192105..80194774,3	MCF-7	breast:
3	chr7:80215015..80216821-chr7:80218593..80220289,2	K562	blood:
4	chr7:80215015..80216821-chr7:80218593..80220289,2	K562	blood:
5	chr7:80198036..80200312-chr7:80208194..80210191,2	MCF-7	breast:

Extended variants
information (count: 1362 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1362 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193221946	chr7:80187757-80187758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147174642	chr7:80187758-80187759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75048628	chr7:80187768-80187769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13245374	chr7:80187844-80187845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184446707	chr7:80187858-80187859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140372905	chr7:80187913-80187914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559436954	chr7:80187931-80187932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528245454	chr7:80187949-80187950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548114228	chr7:80187960-80187961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144886350	chr7:80187977-80187978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527629211	chr7:80187991-80187992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540229023	chr7:80187995-80187996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78971457	chr7:80188019-80188020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144220648	chr7:80188021-80188022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57345451	chr7:80188054-80188055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113584010	chr7:80188076-80188077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58737329	chr7:80188082-80188083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs113346793	chr7:80188084-80188085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551744616	chr7:80188097-80188098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571901171	chr7:80188146-80188147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534271624	chr7:80188167-80188168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1104265	chr7:80188168-80188169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567306734	chr7:80188174-80188175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144419888	chr7:80188201-80188202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186457221	chr7:80188232-80188233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576110212	chr7:80188249-80188250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536987968	chr7:80188323-80188324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111723903	chr7:80188359-80188360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117895265	chr7:80188364-80188365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115503276	chr7:80188390-80188391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28872565	chr7:80188438-80188439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191708459	chr7:80188457-80188458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200523222	chr7:80188478-80188479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560080927	chr7:80188496-80188497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184125284	chr7:80188529-80188530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188526852	chr7:80188535-80188536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373824953	chr7:80188556-80188557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112579781	chr7:80188562-80188563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553066960	chr7:80188567-80188568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563007363	chr7:80188609-80188610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9952177	chr7:80188664-80188665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531750858	chr7:80188697-80188698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1093835	chr7:80188698-80188699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181626036	chr7:80188707-80188708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117072339	chr7:80188729-80188730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527974123	chr7:80188775-80188776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185219052	chr7:80188781-80188782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13222156	chr7:80188804-80188805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536258138	chr7:80188806-80188807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190447658	chr7:80188823-80188824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Breast cancer	21611746	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80182200-80192800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80191800-80194200	Enhancers	Fetal Intestine Large	intestine
3	chr7:80192000-80193400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:80192000-80193800	Enhancers	Hela-S3	cervix
5	chr7:80192400-80192800	Enhancers	HepG2	liver
6	chr7:80192400-80194400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr7:80192400-80195000	Enhancers	Placenta	Placenta
8	chr7:80192800-80193200	Enhancers	Right Ventricle	heart
9	chr7:80192800-80193400	Enhancers	Spleen	Spleen
10	chr7:80192800-80193600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:80192800-80193800	Enhancers	NHEK	skin
12	chr7:80192800-80194000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:80192800-80194000	Enhancers	HMEC	breast
14	chr7:80192800-80194600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:80192800-80194600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:80193000-80193600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:80193000-80193800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:80193000-80193800	Enhancers	Adipose Nuclei	Adipose
19	chr7:80193200-80193600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:80193200-80193800	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr7:80193200-80195200	Weak transcription	Right Ventricle	heart
22	chr7:80193200-80196000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:80193400-80193800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:80193600-80193800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:80193800-80196400	Weak transcription	Fetal Intestine Small	intestine
26	chr7:80193800-80204000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:80194200-80195400	Weak transcription	Fetal Intestine Large	intestine
28	chr7:80194800-80195800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:80195000-80195600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:80195000-80195600	Enhancers	Lung	lung
31	chr7:80195000-80195800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:80195200-80195600	Enhancers	Right Ventricle	heart
33	chr7:80195400-80195600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:80195400-80195600	Enhancers	Fetal Intestine Large	intestine
35	chr7:80195600-80196200	Weak transcription	Fetal Intestine Large	intestine
36	chr7:80196200-80197000	Enhancers	Fetal Intestine Large	intestine
37	chr7:80196400-80197000	Enhancers	Fetal Intestine Small	intestine
38	chr7:80200600-80200800	Enhancers	Right Atrium	heart
39	chr7:80201000-80210400	Weak transcription	Right Atrium	heart
40	chr7:80204000-80204200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:80204400-80204800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr7:80209000-80209200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr7:80209400-80212400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:80209400-80216800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:80209800-80210000	Enhancers	Fetal Heart	heart
46	chr7:80210000-80210200	Flanking Active TSS	Fetal Heart	heart
47	chr7:80210200-80210400	Enhancers	Fetal Heart	heart
48	chr7:80210200-80211000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr7:80210400-80210600	Flanking Active TSS	Fetal Heart	heart
50	chr7:80210400-80210600	Enhancers	Right Atrium	heart

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