Variant report

Variant	nsv607686
Chromosome Location	chr7:80857196-80917148
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:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:80886551..80889533-chr7:80889914..80891522,2	MCF-7	breast:
2	chr7:80858692..80860259-chr7:80861718..80863525,2	MCF-7	breast:
3	chr7:80548728..80550741-chr7:80899992..80902009,2	MCF-7	breast:
4	chr7:80547067..80548800-chr7:80871379..80875196,3	MCF-7	breast:
5	chr7:80873599..80875269-chr7:80889100..80891084,2	K562	blood:
6	chr7:80887573..80889363-chr7:80895949..80898235,2	MCF-7	breast:
7	chr7:80548259..80551007-chr7:80894287..80896652,3	MCF-7	breast:
8	chr7:80873781..80875540-chr7:80877890..80879810,2	MCF-7	breast:
9	chr7:80545653..80550046-chr7:80890283..80894244,7	MCF-7	breast:
10	chr7:80549184..80550786-chr7:80865135..80867870,2	MCF-7	breast:
11	chr7:80568637..80573447-chr7:80883895..80888715,7	MCF-7	breast:
12	chr7:80550385..80552330-chr7:80878720..80881431,3	MCF-7	breast:
13	chr7:80874756..80878864-chr7:80882916..80885687,3	MCF-7	breast:
14	chr7:80886155..80886984-chr7:81099146..81100029,2	MCF-7	breast:
15	chr7:80546214..80546714-chr7:80886119..80886785,2	MCF-7	breast:
16	chr7:80858692..80860259-chr7:80861718..80863525,2	MCF-7	breast:
17	chr7:80860012..80862237-chr7:80868922..80870450,2	MCF-7	breast:
18	chr7:80788690..80790506-chr7:80884567..80886518,2	MCF-7	breast:
19	chr7:80880483..80882765-chr7:80886437..80888337,2	MCF-7	breast:
20	chr7:80544766..80552951-chr7:80883361..80891908,25	MCF-7	breast:
21	chr7:80543126..80544748-chr7:80884976..80886510,2	MCF-7	breast:
22	chr7:80878793..80880678-chr7:80882418..80884824,2	MCF-7	breast:
23	chr7:80570593..80572425-chr7:80891070..80893761,2	MCF-7	breast:
24	chr7:80543196..80546765-chr7:80879476..80881407,3	MCF-7	breast:
25	chr7:80883750..80886703-chr7:80894705..80896223,2	MCF-7	breast:
26	chr7:80547630..80549968-chr7:80897274..80899600,4	MCF-7	breast:
27	chr7:80570359..80572811-chr7:80898526..80900514,2	MCF-7	breast:
28	chr7:80539272..80542140-chr7:80885838..80888215,3	MCF-7	breast:
29	chr7:80884770..80887178-chr7:81075259..81077204,2	MCF-7	breast:
30	chr7:80883750..80886703-chr7:80894705..80896223,2	MCF-7	breast:
31	chr7:80545834..80553200-chr7:80879354..80888784,34	MCF-7	breast:
32	chr7:80880483..80882765-chr7:80886437..80888337,2	MCF-7	breast:
33	chr7:80706504..80708555-chr7:80881256..80882974,2	MCF-7	breast:
34	chr7:80549150..80551514-chr7:80899704..80901338,2	MCF-7	breast:
35	chr7:80874756..80878864-chr7:80882916..80885687,3	MCF-7	breast:
36	chr7:80884647..80887229-chr7:80899126..80901449,2	MCF-7	breast:
37	chr7:80886551..80889533-chr7:80889914..80891522,2	MCF-7	breast:
38	chr7:80884647..80887229-chr7:80899126..80901449,2	MCF-7	breast:
39	chr7:80878793..80880678-chr7:80882418..80884824,2	MCF-7	breast:
40	chr7:80542110..80544669-chr7:80882251..80884817,2	MCF-7	breast:
41	chr7:80860012..80862237-chr7:80868922..80870450,2	MCF-7	breast:
42	chr7:80569987..80572851-chr7:80884552..80889761,8	MCF-7	breast:
43	chr7:80569560..80571494-chr7:80881761..80883574,2	MCF-7	breast:
44	chr7:80873781..80875540-chr7:80877890..80879810,2	MCF-7	breast:
45	chr7:80538890..80541410-chr7:80883326..80886321,2	MCF-7	breast:
46	chr7:80852495..80856208-chr7:80856677..80858955,3	K562	blood:
47	chr7:80878967..80881454-chr7:80884468..80886098,2	MCF-7	breast:
48	chr7:80887573..80889363-chr7:80895949..80898235,2	MCF-7	breast:
49	chr7:80878967..80881454-chr7:80884468..80886098,2	MCF-7	breast:
50	chr7:80873599..80875269-chr7:80889100..80891084,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000075223	chromatin interactions

Extended variants
information (count: 2608 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2608 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs327649	chr7:80857196-80857197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531970529	chr7:80857197-80857198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545268149	chr7:80857202-80857203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373032769	chr7:80857312-80857313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565429612	chr7:80857372-80857373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs179173	chr7:80857421-80857422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186609	chr7:80857451-80857452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566951929	chr7:80857452-80857453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529626774	chr7:80857542-80857543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373954882	chr7:80857551-80857552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570617465	chr7:80857559-80857560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367803064	chr7:80857612-80857613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565398350	chr7:80857668-80857669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549507673	chr7:80857689-80857690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569648981	chr7:80857690-80857691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74331853	chr7:80857733-80857734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115090975	chr7:80857746-80857747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565837156	chr7:80857761-80857762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541409823	chr7:80857885-80857886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182942854	chr7:80857902-80857903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs327733	chr7:80857903-80857904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs327734	chr7:80857943-80857944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574113640	chr7:80857989-80857990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7788304	chr7:80858011-80858012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs327735	chr7:80858023-80858024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532200265	chr7:80858025-80858026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576462068	chr7:80858049-80858050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545442739	chr7:80858050-80858051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146374175	chr7:80858062-80858063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138397241	chr7:80858073-80858074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10276449	chr7:80858084-80858085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs327736	chr7:80858095-80858096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113784166	chr7:80858137-80858138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141473830	chr7:80858138-80858139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192944115	chr7:80858150-80858151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531477696	chr7:80858161-80858162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563256518	chr7:80858180-80858181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183777499	chr7:80858197-80858198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs327737	chr7:80858234-80858235	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188319789	chr7:80858253-80858254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149495446	chr7:80858277-80858278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28573186	chr7:80858322-80858323	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577028918	chr7:80858387-80858388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534624480	chr7:80858476-80858477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547814362	chr7:80858518-80858519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556290885	chr7:80858528-80858529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193295158	chr7:80858530-80858531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184697426	chr7:80858537-80858538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558994990	chr7:80858562-80858563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188171319	chr7:80858572-80858573	Enhancers 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:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80853800-80858800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80858200-80858800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:80858200-80859600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:80858200-80860600	Weak transcription	Psoas Muscle	Psoas
5	chr7:80858400-80859000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:80858400-80859200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:80858600-80859600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:80858800-80859600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:80859000-80864600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:80859200-80859600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:80859600-80863400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:80859600-80864400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:80859600-80864400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:80860400-80861400	Enhancers	Fetal Lung	lung
15	chr7:80860600-80861000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:80860600-80861800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:80860600-80861800	Enhancers	Psoas Muscle	Psoas
18	chr7:80860600-80861800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr7:80860600-80862000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:80860600-80863000	Enhancers	Fetal Muscle Leg	muscle
21	chr7:80860800-80861200	Enhancers	Fetal Stomach	stomach
22	chr7:80860800-80861200	Enhancers	Rectal Smooth Muscle	rectum
23	chr7:80860800-80861400	Enhancers	Colon Smooth Muscle	Colon
24	chr7:80861000-80862800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr7:80861400-80861800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:80861400-80861800	Enhancers	Pancreas	Pancrea
27	chr7:80861400-80863200	Enhancers	Fetal Muscle Trunk	muscle
28	chr7:80861400-80865200	Weak transcription	Fetal Lung	lung
29	chr7:80861600-80861800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:80861600-80863200	Enhancers	Esophagus	oesophagus
31	chr7:80861800-80862800	Weak transcription	Pancreas	Pancrea
32	chr7:80861800-80864200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:80861800-80866400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:80862600-80862800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:80862600-80863000	Enhancers	Spleen	Spleen
36	chr7:80862800-80863000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:80862800-80863000	Enhancers	HSMM	muscle
38	chr7:80862800-80863400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:80863000-80863200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:80863000-80863200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:80863000-80863200	Enhancers	Pancreas	Pancrea
42	chr7:80863000-80863400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:80863200-80863400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:80863200-80863600	Weak transcription	HSMM	muscle
45	chr7:80863200-80864800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:80863400-80866000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:80864200-80864400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr7:80864200-80865200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:80864200-80865400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:80864400-80864800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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