Variant report

Variant	nsv607676
Chromosome Location	chr7:79636682-79687844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:79665955..79668268-chr7:79776859..79779207,2	K562	blood:
2	chr7:78216508..78217230-chr7:79676834..79677486,3	MCF-7	breast:
3	chr7:78926978..78927922-chr7:79676854..79677685,3	MCF-7	breast:
4	chr7:78901096..78902018-chr7:79648257..79649001,2	MCF-7	breast:
5	chr7:78927198..78927954-chr7:79647855..79648713,2	MCF-7	breast:
6	chr7:78901152..78901823-chr7:79676996..79677853,2	MCF-7	breast:
7	chr7:79435821..79436734-chr7:79648179..79648888,3	MCF-7	breast:

Extended variants
information (count: 1259 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1259 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17802148	chr7:79636682-79636683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376544528	chr7:79636687-79636688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549864973	chr7:79636695-79636696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190799195	chr7:79636821-79636822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374871259	chr7:79636900-79636901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35118090	chr7:79636921-79636922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115042343	chr7:79636925-79636926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552580433	chr7:79636941-79636942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184193086	chr7:79636985-79636986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143371618	chr7:79636988-79636989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568737521	chr7:79636998-79636999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74316896	chr7:79636999-79637000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578054407	chr7:79637015-79637016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368087562	chr7:79637080-79637081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369066620	chr7:79637082-79637083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146737957	chr7:79637122-79637123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373802297	chr7:79637126-79637127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140345475	chr7:79637149-79637150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557448322	chr7:79637168-79637169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531379266	chr7:79642836-79642837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200700700	chr7:79642840-79642841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542025536	chr7:79642870-79642871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542537910	chr7:79642948-79642949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115403902	chr7:79642962-79642963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527562941	chr7:79642995-79642996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547762227	chr7:79643070-79643071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10279228	chr7:79643126-79643127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576297207	chr7:79643208-79643209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373923154	chr7:79643249-79643250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560628219	chr7:79643256-79643257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139363344	chr7:79643281-79643282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143192012	chr7:79643289-79643290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181641174	chr7:79643329-79643330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547528459	chr7:79643363-79643364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560693008	chr7:79643380-79643381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376216801	chr7:79643391-79643392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10230913	chr7:79643444-79643445	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs62461707	chr7:79643447-79643448	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186817663	chr7:79643504-79643505	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552312862	chr7:79643594-79643595	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192174930	chr7:79643615-79643616	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs182013849	chr7:79643718-79643719	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs185257329	chr7:79643722-79643723	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568350403	chr7:79643734-79643735	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78480718	chr7:79643735-79643736	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs556178508	chr7:79643827-79643828	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs531937749	chr7:79643864-79643865	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs75622085	chr7:79643883-79643884	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376042675	chr7:79643889-79643890	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545329412	chr7:79643890-79643891	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	22522925	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79636200-79637200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr7:79642800-79643400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:79643200-79643400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:79643200-79643400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:79643200-79644000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:79643400-79643600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:79643400-79643800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:79643400-79643800	Enhancers	Dnd41	blood
9	chr7:79643400-79644000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:79643400-79644000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:79643400-79644400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:79643400-79644600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:79643600-79643800	Enhancers	NHEK	skin
14	chr7:79643600-79644000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:79643600-79644400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:79643800-79644000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:79643800-79644000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr7:79643800-79644000	ZNF genes & repeats	Dnd41	blood
19	chr7:79643800-79644200	Enhancers	Osteobl	bone
20	chr7:79643800-79644400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:79643800-79644400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:79643800-79644600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:79644000-79644400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:79644000-79644400	Enhancers	Dnd41	blood
25	chr7:79644000-79644600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:79644000-79648000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:79644000-79648600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:79644200-79648200	Weak transcription	Osteobl	bone
29	chr7:79644400-79647600	Weak transcription	Dnd41	blood
30	chr7:79644400-79648400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:79644400-79648800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:79644600-79648200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:79644600-79648200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:79644600-79648400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:79646400-79647600	Enhancers	NHLF	lung
36	chr7:79646600-79647000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:79647000-79648200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:79647600-79648400	Weak transcription	NHLF	lung
39	chr7:79647600-79648800	Enhancers	NHDF-Ad	bronchial
40	chr7:79647600-79649000	Enhancers	Dnd41	blood
41	chr7:79648000-79649000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr7:79648200-79648600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:79648200-79648600	Enhancers	Fetal Lung	lung
44	chr7:79648200-79648800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr7:79648200-79649000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:79648200-79649000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:79648200-79649000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:79648200-79649200	Enhancers	Osteobl	bone
49	chr7:79648400-79648600	Enhancers	NHLF	lung
50	chr7:79648400-79649000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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