Variant report

Variant	nsv888560
Chromosome Location	chr7:80994529-81043804
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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:81023323..81026425-chr7:81027740..81030555,3	K562	blood:
2	chr7:80548418..80551029-chr7:81024150..81026804,2	MCF-7	breast:
3	chr7:81023757..81025688-chr7:81028887..81030932,2	MCF-7	breast:
4	chr7:80547327..80548932-chr7:81014175..81016214,2	MCF-7	breast:
5	chr7:81022845..81025405-chr7:81027821..81030357,2	MCF-7	breast:
6	chr7:81023757..81025688-chr7:81028887..81030932,2	MCF-7	breast:
7	chr7:81022845..81025405-chr7:81027821..81030357,2	MCF-7	breast:
8	chr7:81032068..81033901-chr7:81036130..81038920,2	MCF-7	breast:
9	chr7:80549186..80551426-chr7:81023686..81025197,2	MCF-7	breast:
10	chr7:81002298..81004471-chr7:81012216..81014748,2	MCF-7	breast:
11	chr7:81023323..81026425-chr7:81027740..81030555,3	K562	blood:
12	chr7:81002298..81004471-chr7:81012216..81014748,2	MCF-7	breast:
13	chr7:80990895..80993264-chr7:81041483..81043281,2	K562	blood:
14	chr7:80550821..80553401-chr7:81039167..81041257,2	MCF-7	breast:
15	chr7:81032068..81033901-chr7:81036130..81038920,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HGF-7	chr7:81043639-81046985	ucscGeneNc_uc003uhk_1

No data

Variant related genes	Relation type
ENSG00000075223	chromatin interactions

Extended variants
information (count: 1094 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1094 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111154241	chr7:80994529-80994530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111327640	chr7:80994609-80994610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367584163	chr7:80994617-80994618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546245921	chr7:80994640-80994641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193178546	chr7:80994696-80994697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528834845	chr7:80994729-80994730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548452285	chr7:80994787-80994788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557423284	chr7:80994813-80994814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184392829	chr7:80994971-80994972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143507448	chr7:80995043-80995044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570241844	chr7:80995072-80995073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187924627	chr7:80995099-80995100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552593066	chr7:80995137-80995138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566392229	chr7:80995138-80995139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566477305	chr7:80995154-80995155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535746218	chr7:80995214-80995215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567586666	chr7:80995216-80995217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555239955	chr7:80995233-80995234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146745855	chr7:80995238-80995239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73709730	chr7:80995250-80995251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs148477671	chr7:80995256-80995257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34339119	chr7:80995258-80995259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192348117	chr7:80995307-80995308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183956139	chr7:80995311-80995312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142633001	chr7:80995336-80995337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189416692	chr7:80995367-80995368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181415687	chr7:80995402-80995403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539497335	chr7:80995411-80995412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542525252	chr7:80995426-80995427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559208746	chr7:80995449-80995450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184802169	chr7:80995452-80995453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531113238	chr7:80995463-80995464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550942613	chr7:80995522-80995523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563831501	chr7:80995524-80995525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532875427	chr7:80995583-80995584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572569421	chr7:80995605-80995606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534881181	chr7:80995606-80995607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189455045	chr7:80995619-80995620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566150937	chr7:80995643-80995644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535350740	chr7:80995655-80995656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150983657	chr7:80995661-80995662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569083274	chr7:80995688-80995689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538040252	chr7:80995689-80995690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71520749	chr7:80995727-80995728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575022561	chr7:80995761-80995762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181578285	chr7:80995810-80995811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543456809	chr7:80995850-80995851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577371564	chr7:80995851-80995852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539942831	chr7:80995889-80995890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185688337	chr7:80995910-80995911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80991400-80995600	Weak transcription	NHDF-Ad	bronchial
2	chr7:80991400-80996800	Weak transcription	HSMMtube	muscle
3	chr7:80991600-80996000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:80991600-80996000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:80991600-80996600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:80991600-80996600	Weak transcription	HMEC	breast
7	chr7:80991600-80996800	Weak transcription	Ovary	ovary
8	chr7:80991800-80995600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:80995600-80997600	Enhancers	NHDF-Ad	bronchial
10	chr7:80995600-80997800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:80996000-80996200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:80996000-80996600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:80996000-80997600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:80996200-80996800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:80996400-80997200	Enhancers	Hela-S3	cervix
16	chr7:80996400-80997400	Enhancers	Colon Smooth Muscle	Colon
17	chr7:80996400-80997800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:80996400-80997800	Enhancers	Osteobl	bone
19	chr7:80996600-80996800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:80996600-80997400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:80996600-80997400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:80996600-80997400	Enhancers	HMEC	breast
23	chr7:80996600-80997800	Enhancers	HSMM	muscle
24	chr7:80996600-81002800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:80996800-80997200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:80996800-80997200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:80996800-80997200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:80996800-80997200	Enhancers	Ovary	ovary
29	chr7:80996800-80997600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:80996800-80997600	Enhancers	HSMMtube	muscle
31	chr7:80996800-80997600	Enhancers	NHLF	lung
32	chr7:80997000-80997400	Enhancers	NHEK	skin
33	chr7:80997000-80997600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:80997000-80997600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:80997200-80997600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:80997600-80999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:80997600-81000000	Weak transcription	NHDF-Ad	bronchial
38	chr7:80999600-80999800	Enhancers	Fetal Lung	lung
39	chr7:80999800-81000800	Weak transcription	Fetal Lung	lung
40	chr7:80999800-81001200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:81000000-81000600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr7:81000000-81000600	Enhancers	NHDF-Ad	bronchial
43	chr7:81000200-81000600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:81000600-81001600	Weak transcription	NHDF-Ad	bronchial
45	chr7:81000800-81001200	Enhancers	Fetal Lung	lung
46	chr7:81001600-81002400	Enhancers	NHDF-Ad	bronchial
47	chr7:81002400-81003400	Weak transcription	NHDF-Ad	bronchial
48	chr7:81003600-81005600	Enhancers	Hela-S3	cervix
49	chr7:81004000-81004400	Enhancers	A549	lung
50	chr7:81004200-81004400	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links