Variant report

Variant	nsv607687
Chromosome Location	chr7:80866153-80938045
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:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 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	chr7:80541903..80543664-chr7:80917466..80919079,2	MCF-7	breast:
4	chr7:80551995..80554963-chr7:80926459..80929330,3	MCF-7	breast:
5	chr7:80569560..80571494-chr7:80881761..80883574,2	MCF-7	breast:
6	chr7:80933949..80937160-chr7:80938346..80942682,5	MCF-7	breast:
7	chr7:80546953..80552293-chr7:80925082..80929402,9	MCF-7	breast:
8	chr7:80546595..80553605-chr7:80929864..80935608,10	MCF-7	breast:
9	chr7:80545023..80546790-chr7:80924947..80927882,2	MCF-7	breast:
10	chr7:80546464..80549003-chr7:80921752..80923863,3	MCF-7	breast:
11	chr7:80546214..80546714-chr7:80886119..80886785,2	MCF-7	breast:
12	chr7:80538890..80541410-chr7:80883326..80886321,2	MCF-7	breast:
13	chr7:80917777..80918722-chr7:81076502..81077280,2	MCF-7	breast:
14	chr7:80880483..80882765-chr7:80886437..80888337,2	MCF-7	breast:
15	chr7:80545653..80550046-chr7:80890283..80894244,7	MCF-7	breast:
16	chr7:80880483..80882765-chr7:80886437..80888337,2	MCF-7	breast:
17	chr7:80887573..80889363-chr7:80895949..80898235,2	MCF-7	breast:
18	chr7:80886155..80886984-chr7:81099146..81100029,2	MCF-7	breast:
19	chr7:80506062..80508218-chr7:80928022..80930823,2	MCF-7	breast:
20	chr7:80570359..80572811-chr7:80898526..80900514,2	MCF-7	breast:
21	chr7:80926765..80932056-chr7:80932265..80936862,6	MCF-7	breast:
22	chr7:80873781..80875540-chr7:80877890..80879810,2	MCF-7	breast:
23	chr7:80878793..80880678-chr7:80882418..80884824,2	MCF-7	breast:
24	chr7:80547316..80550136-chr7:80937588..80939267,2	MCF-7	breast:
25	chr7:80543196..80546765-chr7:80879476..80881407,3	MCF-7	breast:
26	chr7:80783452..80785528-chr7:80926720..80928385,2	MCF-7	breast:
27	chr7:80878967..80881454-chr7:80884468..80886098,2	MCF-7	breast:
28	chr7:80883750..80886703-chr7:80894705..80896223,2	MCF-7	breast:
29	chr7:80788690..80790506-chr7:80884567..80886518,2	MCF-7	breast:
30	chr7:80884647..80887229-chr7:80899126..80901449,2	MCF-7	breast:
31	chr7:80549184..80550786-chr7:80865135..80867870,2	MCF-7	breast:
32	chr7:80570593..80572425-chr7:80891070..80893761,2	MCF-7	breast:
33	chr7:80884770..80887178-chr7:81075259..81077204,2	MCF-7	breast:
34	chr7:80873781..80875540-chr7:80877890..80879810,2	MCF-7	breast:
35	chr7:80568637..80573447-chr7:80883895..80888715,7	MCF-7	breast:
36	chr7:80548728..80550741-chr7:80899992..80902009,2	MCF-7	breast:
37	chr7:80883750..80886703-chr7:80894705..80896223,2	MCF-7	breast:
38	chr7:80550385..80552330-chr7:80878720..80881431,3	MCF-7	breast:
39	chr7:80860012..80862237-chr7:80868922..80870450,2	MCF-7	breast:
40	chr7:80874756..80878864-chr7:80882916..80885687,3	MCF-7	breast:
41	chr7:80926765..80932056-chr7:80932265..80936862,6	MCF-7	breast:
42	chr7:80545834..80553200-chr7:80879354..80888784,34	MCF-7	breast:
43	chr7:80887573..80889363-chr7:80895949..80898235,2	MCF-7	breast:
44	chr7:80548259..80551007-chr7:80894287..80896652,3	MCF-7	breast:
45	chr7:80541697..80545590-chr7:80928288..80931909,4	MCF-7	breast:
46	chr7:80549150..80551514-chr7:80899704..80901338,2	MCF-7	breast:
47	chr7:80878793..80880678-chr7:80882418..80884824,2	MCF-7	breast:
48	chr7:80884647..80887229-chr7:80899126..80901449,2	MCF-7	breast:
49	chr7:80886551..80889533-chr7:80889914..80891522,2	MCF-7	breast:
50	chr7:80569987..80572851-chr7:80884552..80889761,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000075223	chromatin interactions

Extended variants
information (count: 3092 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3092 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2158376	chr7:80866153-80866154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566278101	chr7:80866173-80866174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557551144	chr7:80866187-80866188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182796909	chr7:80866192-80866193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147225434	chr7:80866236-80866237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553644797	chr7:80866271-80866272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12113548	chr7:80866292-80866293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541862993	chr7:80866310-80866311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562074435	chr7:80866355-80866356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530925073	chr7:80866361-80866362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375918195	chr7:80866398-80866399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544689709	chr7:80866409-80866410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564697586	chr7:80866473-80866474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187301000	chr7:80866498-80866499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12674212	chr7:80866531-80866532	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567053299	chr7:80866543-80866544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139604929	chr7:80866551-80866552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548716012	chr7:80866560-80866561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563596632	chr7:80866563-80866564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149320354	chr7:80866571-80866572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2158377	chr7:80866572-80866573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs327749	chr7:80866580-80866581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113954949	chr7:80866596-80866597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143736722	chr7:80866597-80866598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs55986230	chr7:80866642-80866643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146803968	chr7:80866645-80866646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113051796	chr7:80866646-80866647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568658422	chr7:80866658-80866659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548767740	chr7:80866670-80866671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542874880	chr7:80866678-80866679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555500953	chr7:80866679-80866680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370968170	chr7:80866708-80866709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575687896	chr7:80866731-80866732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544752972	chr7:80866750-80866751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367633645	chr7:80866759-80866760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs327750	chr7:80866771-80866772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551255835	chr7:80866774-80866775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570762463	chr7:80866776-80866777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540836974	chr7:80866781-80866782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191032477	chr7:80866793-80866794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560700556	chr7:80866810-80866811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529579685	chr7:80866818-80866819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549627854	chr7:80866846-80866847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562377228	chr7:80866855-80866856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531195796	chr7:80866856-80866857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551110714	chr7:80866863-80866864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571016678	chr7:80866866-80866867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151120340	chr7:80866876-80866877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183844239	chr7:80866884-80866885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55920754	chr7:80866923-80866924	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:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80861800-80866400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:80865200-80866200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:80865200-80866600	Enhancers	Fetal Lung	lung
4	chr7:80865200-80875200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:80865400-80866200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:80865400-80866200	Weak transcription	Stomach Mucosa	stomach
7	chr7:80865600-80866200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:80866000-80866400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:80866200-80866400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:80866200-80866400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:80866200-80866400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:80866200-80866400	Enhancers	Stomach Mucosa	stomach
13	chr7:80866200-80866400	Enhancers	HSMM	muscle
14	chr7:80866400-80866600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:80869400-80871600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:80870600-80870800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:80870600-80871000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:80870600-80871000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:80870600-80871000	Enhancers	HMEC	breast
20	chr7:80870600-80871200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:80870800-80893400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:80871600-80872200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:80871600-80872400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:80873000-80873200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:80873000-80874200	Enhancers	Fetal Lung	lung
26	chr7:80873600-80874000	Enhancers	Brain Germinal Matrix	brain
27	chr7:80873600-80874400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:80874000-80875200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:80874200-80875400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:80874400-80874800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:80874400-80875200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:80874400-80875200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr7:80874800-80875200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:80875200-80875400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:80875200-80875400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:80877600-80879000	Enhancers	A549	lung
37	chr7:80880800-80882400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:80881200-80881600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:80881200-80881600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr7:80881200-80881600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:80881400-80881600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:80881400-80882000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:80881400-80882400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:80881600-80883800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:80882400-80884200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:80883800-80884000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:80884200-80884400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:80884200-80884400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr7:80886200-80886400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:80886200-80886400	Enhancers	Left Ventricle	heart

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