Variant report

Variant	nsv888558
Chromosome Location	chr7:80844667-80917148
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:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:80886155..80886984-chr7:81099146..81100029,2	MCF-7	breast:
2	chr7:80547630..80549968-chr7:80897274..80899600,4	MCF-7	breast:
3	chr7:80548259..80551007-chr7:80894287..80896652,3	MCF-7	breast:
4	chr7:80878967..80881454-chr7:80884468..80886098,2	MCF-7	breast:
5	chr7:80706504..80708555-chr7:80881256..80882974,2	MCF-7	breast:
6	chr7:80545653..80550046-chr7:80890283..80894244,7	MCF-7	breast:
7	chr7:80544766..80552951-chr7:80883361..80891908,25	MCF-7	breast:
8	chr7:80884647..80887229-chr7:80899126..80901449,2	MCF-7	breast:
9	chr7:80858692..80860259-chr7:80861718..80863525,2	MCF-7	breast:
10	chr7:80878967..80881454-chr7:80884468..80886098,2	MCF-7	breast:
11	chr7:80880483..80882765-chr7:80886437..80888337,2	MCF-7	breast:
12	chr7:80568637..80573447-chr7:80883895..80888715,7	MCF-7	breast:
13	chr7:80884770..80887178-chr7:81075259..81077204,2	MCF-7	breast:
14	chr7:80873781..80875540-chr7:80877890..80879810,2	MCF-7	breast:
15	chr7:80873599..80875269-chr7:80889100..80891084,2	K562	blood:
16	chr7:80884647..80887229-chr7:80899126..80901449,2	MCF-7	breast:
17	chr7:80539272..80542140-chr7:80885838..80888215,3	MCF-7	breast:
18	chr7:80878793..80880678-chr7:80882418..80884824,2	MCF-7	breast:
19	chr7:80887573..80889363-chr7:80895949..80898235,2	MCF-7	breast:
20	chr7:80860012..80862237-chr7:80868922..80870450,2	MCF-7	breast:
21	chr7:80548728..80550741-chr7:80899992..80902009,2	MCF-7	breast:
22	chr7:80538890..80541410-chr7:80883326..80886321,2	MCF-7	breast:
23	chr7:80550385..80552330-chr7:80878720..80881431,3	MCF-7	breast:
24	chr7:80886551..80889533-chr7:80889914..80891522,2	MCF-7	breast:
25	chr7:80549150..80551514-chr7:80899704..80901338,2	MCF-7	breast:
26	chr7:80542110..80544669-chr7:80882251..80884817,2	MCF-7	breast:
27	chr7:80886551..80889533-chr7:80889914..80891522,2	MCF-7	breast:
28	chr7:80873599..80875269-chr7:80889100..80891084,2	K562	blood:
29	chr7:80883750..80886703-chr7:80894705..80896223,2	MCF-7	breast:
30	chr7:80569987..80572851-chr7:80884552..80889761,8	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	chr7:80874756..80878864-chr7:80882916..80885687,3	MCF-7	breast:
34	chr7:80547067..80548800-chr7:80871379..80875196,3	MCF-7	breast:
35	chr7:80874756..80878864-chr7:80882916..80885687,3	MCF-7	breast:
36	chr7:80883750..80886703-chr7:80894705..80896223,2	MCF-7	breast:
37	chr7:80569560..80571494-chr7:80881761..80883574,2	MCF-7	breast:
38	chr7:80831342..80833454-chr7:80845026..80847942,2	MCF-7	breast:
39	chr7:80852495..80856208-chr7:80856677..80858955,3	K562	blood:
40	chr7:80878793..80880678-chr7:80882418..80884824,2	MCF-7	breast:
41	chr7:80840881..80842505-chr7:80847101..80849411,2	K562	blood:
42	chr7:80543196..80546765-chr7:80879476..80881407,3	MCF-7	breast:
43	chr7:80570359..80572811-chr7:80898526..80900514,2	MCF-7	breast:
44	chr7:80546214..80546714-chr7:80886119..80886785,2	MCF-7	breast:
45	chr7:80860012..80862237-chr7:80868922..80870450,2	MCF-7	breast:
46	chr7:80858692..80860259-chr7:80861718..80863525,2	MCF-7	breast:
47	chr7:80543126..80544748-chr7:80884976..80886510,2	MCF-7	breast:
48	chr7:80545834..80553200-chr7:80879354..80888784,34	MCF-7	breast:
49	chr7:80880483..80882765-chr7:80886437..80888337,2	MCF-7	breast:
50	chr7:80887573..80889363-chr7:80895949..80898235,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000075223	chromatin interactions

Extended variants
information (count: 2854 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2854 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562792448	chr7:80851424-80851425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184016893	chr7:80851428-80851429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34635090	chr7:80851458-80851459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555881307	chr7:80851497-80851498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531616322	chr7:80851500-80851501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575730688	chr7:80851568-80851569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187782555	chr7:80851629-80851630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558728970	chr7:80851636-80851637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74705598	chr7:80851648-80851649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551715467	chr7:80851651-80851652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571533971	chr7:80851694-80851695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386715140	chr7:80851700-80851701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59668780	chr7:80851702-80851703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149120440	chr7:80851726-80851727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574115526	chr7:80851730-80851731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143172677	chr7:80851735-80851736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374136372	chr7:80851738-80851739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151207358	chr7:80851743-80851744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570840959	chr7:80851754-80851755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184819385	chr7:80851759-80851760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531843400	chr7:80851769-80851770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187048314	chr7:80851778-80851779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6964026	chr7:80851779-80851780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565490334	chr7:80851805-80851806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527853058	chr7:80851835-80851836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574847179	chr7:80851836-80851837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567507993	chr7:80851856-80851857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567855368	chr7:80851899-80851900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535891464	chr7:80851903-80851904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549369525	chr7:80851922-80851923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191695989	chr7:80851929-80851930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs327641	chr7:80851943-80851944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558344880	chr7:80851944-80851945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs327642	chr7:80851961-80851962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111661639	chr7:80851962-80851963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs327643	chr7:80851967-80851968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184657309	chr7:80851968-80851969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189024667	chr7:80851977-80851978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374589711	chr7:80851985-80851986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113170222	chr7:80852011-80852012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138131860	chr7:80852016-80852017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545505601	chr7:80852068-80852069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370699585	chr7:80852081-80852082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527928299	chr7:80852140-80852141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541262583	chr7:80852141-80852142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561100246	chr7:80852194-80852195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530337071	chr7:80852201-80852202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550029325	chr7:80852205-80852206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182315994	chr7:80852224-80852225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185499432	chr7:80852295-80852296	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:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80851400-80853400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80853400-80853800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:80853800-80858800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:80858200-80858800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:80858200-80859600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:80858200-80860600	Weak transcription	Psoas Muscle	Psoas
7	chr7:80858400-80859000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:80858400-80859200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:80858600-80859600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:80858800-80859600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:80859000-80864600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:80859200-80859600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:80859600-80863400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:80859600-80864400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:80859600-80864400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:80860400-80861400	Enhancers	Fetal Lung	lung
17	chr7:80860600-80861000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:80860600-80861800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:80860600-80861800	Enhancers	Psoas Muscle	Psoas
20	chr7:80860600-80861800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:80860600-80862000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:80860600-80863000	Enhancers	Fetal Muscle Leg	muscle
23	chr7:80860800-80861200	Enhancers	Fetal Stomach	stomach
24	chr7:80860800-80861200	Enhancers	Rectal Smooth Muscle	rectum
25	chr7:80860800-80861400	Enhancers	Colon Smooth Muscle	Colon
26	chr7:80861000-80862800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:80861400-80861800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:80861400-80861800	Enhancers	Pancreas	Pancrea
29	chr7:80861400-80863200	Enhancers	Fetal Muscle Trunk	muscle
30	chr7:80861400-80865200	Weak transcription	Fetal Lung	lung
31	chr7:80861600-80861800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:80861600-80863200	Enhancers	Esophagus	oesophagus
33	chr7:80861800-80862800	Weak transcription	Pancreas	Pancrea
34	chr7:80861800-80864200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:80861800-80866400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:80862600-80862800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:80862600-80863000	Enhancers	Spleen	Spleen
38	chr7:80862800-80863000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:80862800-80863000	Enhancers	HSMM	muscle
40	chr7:80862800-80863400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:80863000-80863200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:80863000-80863200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:80863000-80863200	Enhancers	Pancreas	Pancrea
44	chr7:80863000-80863400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:80863200-80863400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:80863200-80863600	Weak transcription	HSMM	muscle
47	chr7:80863200-80864800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:80863400-80866000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:80864200-80864400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:80864200-80865200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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