Variant report

Variant	nsv888555
Chromosome Location	chr7:80695828-80766407
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: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	chr7:80550844..80552775-chr7:80722519..80724746,2	MCF-7	breast:
2	chr7:80748132..80750637-chr7:80752340..80754358,2	MCF-7	breast:
3	chr7:80572189..80572824-chr7:80704051..80704818,2	MCF-7	breast:
4	chr3:64009122..64009628-chr7:80743049..80743848,2	MCF-7	breast:
5	chr7:80735961..80738195-chr7:80820318..80822112,2	MCF-7	breast:
6	chr7:80749693..80751206-chr7:80754360..80756638,2	MCF-7	breast:
7	chr7:80748132..80750637-chr7:80752340..80754358,2	MCF-7	breast:
8	chr7:80569413..80574847-chr7:80699987..80704923,10	MCF-7	breast:
9	chr7:80762464..80764169-chr7:80767281..80770291,3	K562	blood:
10	chr7:80740607..80742830-chr7:80744233..80747144,2	MCF-7	breast:
11	chr7:80547198..80550195-chr7:80695484..80697317,2	MCF-7	breast:
12	chr7:80544433..80547832-chr7:80692006..80696371,5	MCF-7	breast:
13	chr7:80545954..80551359-chr7:80730647..80734192,4	MCF-7	breast:
14	chr7:80550268..80552469-chr7:80695848..80697733,3	MCF-7	breast:
15	chr7:80547954..80550171-chr7:80721160..80725136,3	MCF-7	breast:
16	chr7:80716969..80719042-chr7:80721026..80723065,2	K562	blood:
17	chr7:80571523..80573268-chr7:80727858..80730122,2	MCF-7	breast:
18	chr7:80740607..80742830-chr7:80744233..80747144,2	MCF-7	breast:
19	chr7:80716969..80719042-chr7:80721026..80723065,2	K562	blood:
20	chr7:80571738..80573248-chr7:80725803..80727635,2	MCF-7	breast:
21	chr7:80571993..80572689-chr7:80697291..80697866,3	MCF-7	breast:
22	chr7:80546160..80553330-chr7:80697243..80707851,28	MCF-7	breast:
23	chr7:80722580..80725248-chr7:80741058..80743556,2	MCF-7	breast:
24	chr7:80657944..80659650-chr7:80705154..80707062,2	K562	blood:
25	chr7:80761023..80762891-chr7:80768452..80770762,2	MCF-7	breast:
26	chr7:80545266..80555113-chr7:80701488..80708340,14	MCF-7	breast:
27	chr7:80545333..80552381-chr7:80731206..80734904,6	MCF-7	breast:
28	chr7:80749693..80751206-chr7:80754360..80756638,2	MCF-7	breast:
29	chr7:80548290..80550308-chr7:80744490..80746991,2	MCF-7	breast:
30	chr7:80547233..80548778-chr7:80697858..80700126,2	MCF-7	breast:
31	chr7:80762464..80764120-chr7:80767823..80770291,2	K562	blood:
32	chr7:80697644..80700477-chr7:80703389..80704968,2	MCF-7	breast:
33	chr7:80690552..80692253-chr7:80697975..80700907,2	K562	blood:
34	chr7:80576440..80578496-chr7:80734591..80737264,2	MCF-7	breast:
35	chr7:80548656..80550298-chr7:80728107..80730010,2	MCF-7	breast:
36	chr7:80695425..80696985-chr7:80792014..80793574,2	MCF-7	breast:
37	chr7:80550453..80552011-chr7:80727282..80729460,2	MCF-7	breast:
38	chr7:80740054..80742115-chr7:80745636..80747771,2	K562	blood:
39	chr7:80740054..80742115-chr7:80745636..80747771,2	K562	blood:
40	chr7:80692851..80695599-chr7:80695778..80697561,2	MCF-7	breast:
41	chr7:80546827..80548468-chr7:80726842..80728579,2	MCF-7	breast:
42	chr7:80570440..80573210-chr7:80694218..80696148,2	MCF-7	breast:
43	chr7:80572189..80572750-chr7:80697046..80697791,3	MCF-7	breast:
44	chr7:80545597..80550139-chr7:80727940..80730793,4	MCF-7	breast:
45	chr7:80570369..80572451-chr7:80702280..80705942,3	MCF-7	breast:
46	chr7:80706504..80708555-chr7:80881256..80882974,2	MCF-7	breast:
47	chr7:80722580..80725248-chr7:80741058..80743556,2	MCF-7	breast:
48	chr7:80697644..80700477-chr7:80703389..80704968,2	MCF-7	breast:
49	chr7:80548775..80550728-chr7:80725629..80727229,2	MCF-7	breast:
50	chr7:80573388..80575762-chr7:80724562..80727160,2	MCF-7	breast:

No data

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

Extended variants
information (count: 2487 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:2487 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1881541	chr7:80695828-80695829	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs386715117	chr7:80695924-80695925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562639722	chr7:80695925-80695926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117038536	chr7:80695944-80695945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73149498	chr7:80695981-80695982	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375626965	chr7:80695982-80695983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs180868345	chr7:80695988-80695989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527953696	chr7:80695992-80695993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577127534	chr7:80696015-80696016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74449221	chr7:80696021-80696022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185922430	chr7:80696067-80696068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373674812	chr7:80696081-80696082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534841124	chr7:80696117-80696118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556294097	chr7:80696132-80696133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569725178	chr7:80696166-80696167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189633208	chr7:80696171-80696172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570982950	chr7:80696237-80696238	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558438591	chr7:80696240-80696241	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1528386	chr7:80696261-80696262	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534644650	chr7:80696384-80696385	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554838778	chr7:80696403-80696404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs1881542	chr7:80696415-80696416	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542567319	chr7:80696445-80696446	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs181154479	chr7:80696457-80696458	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576096069	chr7:80696469-80696470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545220267	chr7:80696506-80696507	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1881543	chr7:80696510-80696511	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148821609	chr7:80696517-80696518	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547819091	chr7:80696532-80696533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185608872	chr7:80696533-80696534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529721781	chr7:80696574-80696575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541262140	chr7:80696623-80696624	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567041135	chr7:80696656-80696657	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549761685	chr7:80696657-80696658	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190764772	chr7:80696670-80696671	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183034662	chr7:80696706-80696707	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10255328	chr7:80696755-80696756	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147022740	chr7:80696803-80696804	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535882524	chr7:80696838-80696839	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76533968	chr7:80696841-80696842	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554570019	chr7:80696864-80696865	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1919370	chr7:80696883-80696884	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112568660	chr7:80696892-80696893	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536262992	chr7:80696893-80696894	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556111585	chr7:80696894-80696895	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576008363	chr7:80696898-80696899	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545134297	chr7:80696899-80696900	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs386715119	chr7:80696900-80696901	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372306786	chr7:80696902-80696903	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541570040	chr7:80696948-80696949	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80695200-80696200	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:80696200-80696400	Enhancers	Fetal Muscle Leg	muscle
3	chr7:80696600-80697400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:80697000-80697400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:80699400-80700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:80700200-80700600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:80700200-80700800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:80700200-80701000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:80700400-80701000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:80700600-80701200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:80700600-80703800	Weak transcription	Pancreas	Pancrea
12	chr7:80700800-80704000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:80701000-80703000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:80701000-80703000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:80701000-80704400	Weak transcription	Osteobl	bone
16	chr7:80701600-80701800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:80701800-80702800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:80702200-80702600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:80702200-80702800	Enhancers	NHEK	skin
20	chr7:80702200-80705200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:80702200-80705200	Enhancers	HMEC	breast
22	chr7:80702600-80703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:80702800-80703000	Flanking Active TSS	NHEK	skin
24	chr7:80702800-80703200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr7:80702800-80703600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:80702800-80703600	Enhancers	Hela-S3	cervix
27	chr7:80702800-80705000	Enhancers	Fetal Muscle Leg	muscle
28	chr7:80702800-80705600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:80703000-80703200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:80703000-80703200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:80703000-80703200	Enhancers	NHEK	skin
32	chr7:80703000-80704000	Enhancers	HSMM	muscle
33	chr7:80703000-80704800	Enhancers	NH-A	brain
34	chr7:80703000-80705400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:80703200-80703400	Flanking Active TSS	NHEK	skin
36	chr7:80703400-80704200	Enhancers	NHEK	skin
37	chr7:80703600-80704400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:80703600-80704600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr7:80703800-80704200	Enhancers	Pancreas	Pancrea
40	chr7:80704000-80704200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:80704200-80705000	Flanking Active TSS	NHEK	skin
42	chr7:80704400-80705000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr7:80704400-80705000	Enhancers	Osteobl	bone
44	chr7:80705000-80705600	Enhancers	NHEK	skin
45	chr7:80705200-80706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:80705400-80706000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:80705600-80706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:80706000-80707400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:80706200-80706600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:80706200-80706600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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