Variant report

Variant	nsv888553
Chromosome Location	chr7:80683308-80766407
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:55)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:80545333..80552381-chr7:80731206..80734904,6	MCF-7	breast:
2	chr7:80740607..80742830-chr7:80744233..80747144,2	MCF-7	breast:
3	chr7:80571882..80572841-chr7:80694402..80695316,4	MCF-7	breast:
4	chr7:80740607..80742830-chr7:80744233..80747144,2	MCF-7	breast:
5	chr7:80762464..80764169-chr7:80767281..80770291,3	K562	blood:
6	chr7:80545266..80555113-chr7:80701488..80708340,14	MCF-7	breast:
7	chr7:80690552..80692253-chr7:80697975..80700907,2	K562	blood:
8	chr7:80695425..80696985-chr7:80792014..80793574,2	MCF-7	breast:
9	chr7:80546827..80548468-chr7:80726842..80728579,2	MCF-7	breast:
10	chr7:80572189..80572750-chr7:80697046..80697791,3	MCF-7	breast:
11	chr7:80547198..80550195-chr7:80695484..80697317,2	MCF-7	breast:
12	chr7:80550844..80552775-chr7:80722519..80724746,2	MCF-7	breast:
13	chr7:80571523..80573268-chr7:80727858..80730122,2	MCF-7	breast:
14	chr7:80546160..80553330-chr7:80697243..80707851,28	MCF-7	breast:
15	chr7:80547233..80548778-chr7:80697858..80700126,2	MCF-7	breast:
16	chr7:80545954..80551359-chr7:80730647..80734192,4	MCF-7	breast:
17	chr7:80722580..80725248-chr7:80741058..80743556,2	MCF-7	breast:
18	chr7:80569413..80574847-chr7:80699987..80704923,10	MCF-7	breast:
19	chr7:80548775..80550728-chr7:80725629..80727229,2	MCF-7	breast:
20	chr7:80697644..80700477-chr7:80703389..80704968,2	MCF-7	breast:
21	chr7:80573388..80575762-chr7:80724562..80727160,2	MCF-7	breast:
22	chr7:80740054..80742115-chr7:80745636..80747771,2	K562	blood:
23	chr7:80716969..80719042-chr7:80721026..80723065,2	K562	blood:
24	chr7:80735961..80738195-chr7:80820318..80822112,2	MCF-7	breast:
25	chr7:80570369..80572451-chr7:80702280..80705942,3	MCF-7	breast:
26	chr7:80545597..80550139-chr7:80727940..80730793,4	MCF-7	breast:
27	chr7:80572189..80572824-chr7:80704051..80704818,2	MCF-7	breast:
28	chr7:80748132..80750637-chr7:80752340..80754358,2	MCF-7	breast:
29	chr7:80576440..80578496-chr7:80734591..80737264,2	MCF-7	breast:
30	chr7:80571993..80572689-chr7:80697291..80697866,3	MCF-7	breast:
31	chr7:80761023..80762891-chr7:80768452..80770762,2	MCF-7	breast:
32	chr7:80550268..80552469-chr7:80695848..80697733,3	MCF-7	breast:
33	chr7:80690552..80692253-chr7:80697975..80700907,2	K562	blood:
34	chr7:80748132..80750637-chr7:80752340..80754358,2	MCF-7	breast:
35	chr7:80657944..80659650-chr7:80705154..80707062,2	K562	blood:
36	chr7:80548656..80550298-chr7:80728107..80730010,2	MCF-7	breast:
37	chr7:80550910..80552640-chr7:80692789..80694831,2	MCF-7	breast:
38	chr7:80548290..80550308-chr7:80744490..80746991,2	MCF-7	breast:
39	chr7:80716969..80719042-chr7:80721026..80723065,2	K562	blood:
40	chr3:64009122..64009628-chr7:80743049..80743848,2	MCF-7	breast:
41	chr7:80525666..80528022-chr7:80693500..80695168,2	MCF-7	breast:
42	chr7:80547954..80550171-chr7:80721160..80725136,3	MCF-7	breast:
43	chr7:80570440..80573210-chr7:80694218..80696148,2	MCF-7	breast:
44	chr7:80749693..80751206-chr7:80754360..80756638,2	MCF-7	breast:
45	chr7:80697644..80700477-chr7:80703389..80704968,2	MCF-7	breast:
46	chr7:80749693..80751206-chr7:80754360..80756638,2	MCF-7	breast:
47	chr7:80544433..80547832-chr7:80692006..80696371,5	MCF-7	breast:
48	chr7:80550453..80552011-chr7:80727282..80729460,2	MCF-7	breast:
49	chr7:80762464..80764120-chr7:80767823..80770291,2	K562	blood:
50	chr7:80692851..80695599-chr7:80695778..80697561,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226671	chromatin interactions
ENSG00000075223	chromatin interactions
ENSG00000163636	chromatin interactions

Extended variants
information (count: 2843 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2843 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1636579	chr7:80683308-80683309	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191488210	chr7:80683331-80683332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567629560	chr7:80683346-80683347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181165504	chr7:80683351-80683352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570327142	chr7:80683358-80683359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576022953	chr7:80683359-80683360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538245627	chr7:80683364-80683365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558663836	chr7:80683394-80683395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185612930	chr7:80683401-80683402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190766789	chr7:80683409-80683410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183002607	chr7:80683411-80683412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574809872	chr7:80683414-80683415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377699665	chr7:80683456-80683457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187664223	chr7:80683479-80683480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4286886	chr7:80683533-80683534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373653142	chr7:80683591-80683592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73149469	chr7:80683599-80683600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534598417	chr7:80683610-80683611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554564985	chr7:80683670-80683671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191787975	chr7:80683701-80683702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182882760	chr7:80683720-80683721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547602247	chr7:80683739-80683740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567547076	chr7:80683769-80683770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536428383	chr7:80683814-80683815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368467099	chr7:80683835-80683836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537386515	chr7:80683856-80683857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552314851	chr7:80683884-80683885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375568714	chr7:80683893-80683894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376592075	chr7:80683907-80683908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202088046	chr7:80683931-80683932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371868256	chr7:80683950-80683951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372295485	chr7:80683953-80683954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1729457	chr7:80684022-80684023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4292631	chr7:80684041-80684042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs60982135	chr7:80684048-80684049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199997431	chr7:80684099-80684100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191203414	chr7:80684104-80684105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572185913	chr7:80684121-80684122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201193959	chr7:80684158-80684159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201983074	chr7:80684242-80684243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554686142	chr7:80684258-80684259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574723523	chr7:80684500-80684501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543245720	chr7:80684507-80684508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368969676	chr7:80684545-80684546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577018133	chr7:80684596-80684597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545396690	chr7:80684602-80684603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372732381	chr7:80684612-80684613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564902856	chr7:80684629-80684630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377164253	chr7:80684642-80684643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527656412	chr7:80684814-80684815	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	22037309	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80665200-80684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80680200-80683400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:80680800-80683400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:80681600-80683400	Enhancers	A549	lung
5	chr7:80682000-80683400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:80682400-80683400	Enhancers	NHDF-Ad	bronchial
7	chr7:80682600-80683400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:80682600-80683400	Enhancers	Osteobl	bone
9	chr7:80683000-80683400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:80683400-80687000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:80687000-80687200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:80687200-80687600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:80691600-80691800	Enhancers	Rectal Smooth Muscle	rectum
14	chr7:80691600-80692200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:80691600-80692400	Enhancers	A549	lung
16	chr7:80691600-80694000	Enhancers	Adipose Nuclei	Adipose
17	chr7:80691600-80694000	Enhancers	Fetal Lung	lung
18	chr7:80691600-80695200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:80691800-80692000	Enhancers	Fetal Muscle Leg	muscle
20	chr7:80691800-80695200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:80692000-80692800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:80692200-80694200	Enhancers	Colon Smooth Muscle	Colon
23	chr7:80692400-80693800	Weak transcription	A549	lung
24	chr7:80692600-80695200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:80692800-80693000	Enhancers	Aorta	Aorta
26	chr7:80692800-80693200	Enhancers	Rectal Smooth Muscle	rectum
27	chr7:80693200-80693400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:80693200-80693800	Weak transcription	Aorta	Aorta
29	chr7:80693200-80694000	Enhancers	Fetal Stomach	stomach
30	chr7:80693200-80694400	Enhancers	HSMM	muscle
31	chr7:80693200-80695000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:80693400-80693800	Enhancers	Rectal Smooth Muscle	rectum
33	chr7:80693600-80694000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:80693600-80694000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:80693600-80694200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:80693600-80694200	Enhancers	Fetal Intestine Small	intestine
37	chr7:80693600-80694200	Enhancers	HSMMtube	muscle
38	chr7:80693800-80694000	Enhancers	Aorta	Aorta
39	chr7:80693800-80694200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr7:80693800-80695200	Enhancers	Fetal Muscle Leg	muscle
41	chr7:80694000-80694200	Enhancers	A549	lung
42	chr7:80694000-80694600	Weak transcription	Aorta	Aorta
43	chr7:80694000-80695000	Weak transcription	Adipose Nuclei	Adipose
44	chr7:80694800-80695000	Enhancers	Aorta	Aorta
45	chr7:80695000-80695200	Enhancers	Adipose Nuclei	Adipose
46	chr7:80695200-80696200	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:80696200-80696400	Enhancers	Fetal Muscle Leg	muscle
48	chr7:80696600-80697400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:80697000-80697400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:80699400-80700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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