Variant report

Variant	nsv607688
Chromosome Location	chr7:80870379-80947517
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:65)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:80886551..80889533-chr7:80889914..80891522,2	MCF-7	breast:
2	chr7:80878967..80881454-chr7:80884468..80886098,2	MCF-7	breast:
3	chr7:80545653..80550046-chr7:80890283..80894244,7	MCF-7	breast:
4	chr7:80543126..80544748-chr7:80884976..80886510,2	MCF-7	breast:
5	chr7:80569560..80571494-chr7:80881761..80883574,2	MCF-7	breast:
6	chr7:80873599..80875269-chr7:80889100..80891084,2	K562	blood:
7	chr7:80884770..80887178-chr7:81075259..81077204,2	MCF-7	breast:
8	chr7:80874756..80878864-chr7:80882916..80885687,3	MCF-7	breast:
9	chr7:80547630..80549968-chr7:80897274..80899600,4	MCF-7	breast:
10	chr7:80547316..80550136-chr7:80937588..80939267,2	MCF-7	breast:
11	chr7:80542110..80544669-chr7:80882251..80884817,2	MCF-7	breast:
12	chr7:80878793..80880678-chr7:80882418..80884824,2	MCF-7	breast:
13	chr7:80568637..80573447-chr7:80883895..80888715,7	MCF-7	breast:
14	chr7:80506062..80508218-chr7:80928022..80930823,2	MCF-7	breast:
15	chr7:80933949..80937160-chr7:80938346..80942682,5	MCF-7	breast:
16	chr7:80941379..80943835-chr7:80946469..80948951,2	K562	blood:
17	chr7:80873781..80875540-chr7:80877890..80879810,2	MCF-7	breast:
18	chr7:80706504..80708555-chr7:80881256..80882974,2	MCF-7	breast:
19	chr7:80886551..80889533-chr7:80889914..80891522,2	MCF-7	breast:
20	chr7:80548563..80550802-chr7:80930426..80932434,2	MCF-7	breast:
21	chr7:80538890..80541410-chr7:80883326..80886321,2	MCF-7	breast:
22	chr7:80546874..80550922-chr7:80925118..80930424,9	MCF-7	breast:
23	chr7:80543196..80546765-chr7:80879476..80881407,3	MCF-7	breast:
24	chr7:80547067..80548800-chr7:80871379..80875196,3	MCF-7	breast:
25	chr7:80550385..80552330-chr7:80878720..80881431,3	MCF-7	breast:
26	chr7:80941379..80943835-chr7:80946469..80948951,2	K562	blood:
27	chr7:80551995..80554963-chr7:80926459..80929330,3	MCF-7	breast:
28	chr7:80887573..80889363-chr7:80895949..80898235,2	MCF-7	breast:
29	chr7:80926765..80932056-chr7:80932265..80936862,6	MCF-7	breast:
30	chr7:80880483..80882765-chr7:80886437..80888337,2	MCF-7	breast:
31	chr7:80860012..80862237-chr7:80868922..80870450,2	MCF-7	breast:
32	chr7:80880483..80882765-chr7:80886437..80888337,2	MCF-7	breast:
33	chr7:80884647..80887229-chr7:80899126..80901449,2	MCF-7	breast:
34	chr7:80887573..80889363-chr7:80895949..80898235,2	MCF-7	breast:
35	chr7:80886155..80886984-chr7:81099146..81100029,2	MCF-7	breast:
36	chr7:80883750..80886703-chr7:80894705..80896223,2	MCF-7	breast:
37	chr7:80569987..80572851-chr7:80884552..80889761,8	MCF-7	breast:
38	chr7:80546214..80546714-chr7:80886119..80886785,2	MCF-7	breast:
39	chr7:80548259..80551007-chr7:80894287..80896652,3	MCF-7	breast:
40	chr7:80541697..80545590-chr7:80928288..80931909,4	MCF-7	breast:
41	chr7:80783452..80785528-chr7:80926720..80928385,2	MCF-7	breast:
42	chr7:80541903..80543664-chr7:80917466..80919079,2	MCF-7	breast:
43	chr7:80570593..80572425-chr7:80891070..80893761,2	MCF-7	breast:
44	chr7:80926765..80932056-chr7:80932265..80936862,6	MCF-7	breast:
45	chr7:80545023..80546790-chr7:80924947..80927882,2	MCF-7	breast:
46	chr7:80788690..80790506-chr7:80884567..80886518,2	MCF-7	breast:
47	chr7:80546464..80549003-chr7:80921752..80923863,3	MCF-7	breast:
48	chr7:80883750..80886703-chr7:80894705..80896223,2	MCF-7	breast:
49	chr7:80548728..80550741-chr7:80899992..80902009,2	MCF-7	breast:
50	chr7:80570359..80572811-chr7:80898526..80900514,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000075223	chromatin interactions

Extended variants
information (count: 3247 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3247 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17154974	chr7:80870379-80870380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182675924	chr7:80870398-80870399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564742713	chr7:80870443-80870444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568644184	chr7:80870451-80870452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545644001	chr7:80870454-80870455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372950718	chr7:80870467-80870468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148270951	chr7:80870472-80870473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151314310	chr7:80870532-80870533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551283366	chr7:80870575-80870576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141774753	chr7:80870590-80870591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12531400	chr7:80870628-80870629	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552887641	chr7:80870634-80870635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566454424	chr7:80870645-80870646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370254421	chr7:80870650-80870651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77872813	chr7:80870653-80870654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555300453	chr7:80870667-80870668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544846039	chr7:80870668-80870669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537149536	chr7:80870669-80870670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186732758	chr7:80870697-80870698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191911924	chr7:80870712-80870713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71520741	chr7:80870729-80870730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs36115707	chr7:80870732-80870733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78001355	chr7:80870733-80870734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184159744	chr7:80870749-80870750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6965375	chr7:80870770-80870771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187525592	chr7:80870798-80870799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192825181	chr7:80870829-80870830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559663469	chr7:80870836-80870837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185754086	chr7:80870844-80870845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190283033	chr7:80870922-80870923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377731708	chr7:80870933-80870934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529263565	chr7:80870944-80870945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550154254	chr7:80870947-80870948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145520122	chr7:80870977-80870978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73380419	chr7:80870984-80870985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569132575	chr7:80871012-80871013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73380421	chr7:80871043-80871044	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182303535	chr7:80871084-80871085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546295403	chr7:80871106-80871107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147716210	chr7:80871123-80871124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569819783	chr7:80871126-80871127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201973483	chr7:80871144-80871145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142096686	chr7:80871174-80871175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551583612	chr7:80871214-80871215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548659007	chr7:80871246-80871247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183753095	chr7:80871271-80871272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28368562	chr7:80871278-80871279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537650241	chr7:80871294-80871295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558499563	chr7:80871306-80871307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79259907	chr7:80871312-80871313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80865200-80875200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:80869400-80871600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:80870600-80870800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:80870600-80871000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:80870600-80871000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:80870600-80871000	Enhancers	HMEC	breast
7	chr7:80870600-80871200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:80870800-80893400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:80871600-80872200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:80871600-80872400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:80873000-80873200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:80873000-80874200	Enhancers	Fetal Lung	lung
13	chr7:80873600-80874000	Enhancers	Brain Germinal Matrix	brain
14	chr7:80873600-80874400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:80874000-80875200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:80874200-80875400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:80874400-80874800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:80874400-80875200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:80874400-80875200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:80874800-80875200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:80875200-80875400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:80875200-80875400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:80877600-80879000	Enhancers	A549	lung
24	chr7:80880800-80882400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:80881200-80881600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:80881200-80881600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:80881200-80881600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:80881400-80881600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:80881400-80882000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:80881400-80882400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:80881600-80883800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:80882400-80884200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:80883800-80884000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:80884200-80884400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:80884200-80884400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:80886200-80886400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:80886200-80886400	Enhancers	Left Ventricle	heart
38	chr7:80886200-80886400	Enhancers	Pancreas	Pancrea
39	chr7:80886200-80886400	Enhancers	Right Atrium	heart
40	chr7:80886200-80886600	Enhancers	Adipose Nuclei	Adipose
41	chr7:80886600-80903000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:80893200-80894000	Enhancers	HMEC	breast
43	chr7:80893400-80894000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:80893600-80894000	Enhancers	NHEK	skin
45	chr7:80893800-80894400	Enhancers	Gastric	stomach
46	chr7:80894000-80896400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:80894000-80896600	Weak transcription	HMEC	breast
48	chr7:80896400-80896600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:80896400-80898000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:80896600-80897000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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