Variant report

Variant	nsv521001
Chromosome Location	chr7:80618038-80644661
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:80623727..80626571-chr7:80632803..80635614,2	MCF-7	breast:
2	chr7:80630726..80632339-chr7:80635881..80637889,2	K562	blood:
3	chr7:80635721..80638833-chr7:80644167..80646941,3	MCF-7	breast:
4	chr7:80547327..80552292-chr7:80621561..80625464,7	MCF-7	breast:
5	chr7:80548297..80550062-chr7:80639579..80643637,5	MCF-7	breast:
6	chr7:80623727..80626571-chr7:80632803..80635614,2	MCF-7	breast:
7	chr7:80630839..80633684-chr7:80636389..80638259,2	K562	blood:
8	chr7:80571034..80573254-chr7:80627413..80629496,2	MCF-7	breast:
9	chr7:80633226..80634840-chr7:80638668..80640562,2	MCF-7	breast:
10	chr7:80570735..80573677-chr7:80637820..80640078,2	MCF-7	breast:
11	chr7:80633226..80634840-chr7:80638668..80640562,2	MCF-7	breast:
12	chr7:80635721..80638833-chr7:80644167..80646941,3	MCF-7	breast:
13	chr7:80630726..80632339-chr7:80635881..80637889,2	K562	blood:
14	chr7:80547310..80549488-chr7:80619080..80620917,2	MCF-7	breast:
15	chr7:80546718..80548277-chr7:80629819..80632695,2	MCF-7	breast:
16	chr7:80630839..80633684-chr7:80636389..80638259,2	K562	blood:
17	chr7:80643095..80644798-chr7:80786806..80789312,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000075223	chromatin interactions

Extended variants
information (count: 1015 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1015 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541552356	chr7:80619150-80619151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561818169	chr7:80619161-80619162	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs58678841	chr7:80619194-80619195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191935043	chr7:80619229-80619230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182231739	chr7:80619363-80619364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144769627	chr7:80619367-80619368	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs58912250	chr7:80619368-80619369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs397960625	chr7:80619395-80619396	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186472647	chr7:80619432-80619433	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533229838	chr7:80619442-80619443	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546901395	chr7:80619465-80619466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191773098	chr7:80619546-80619547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs853051	chr7:80619575-80619576	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs368328288	chr7:80619585-80619586	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs853050	chr7:80619607-80619608	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548435560	chr7:80619625-80619626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576419184	chr7:80619633-80619634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs853049	chr7:80619665-80619666	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538607197	chr7:80619682-80619683	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557499598	chr7:80619687-80619688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577132177	chr7:80619693-80619694	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559018407	chr7:80619751-80619752	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539775041	chr7:80619756-80619757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144632704	chr7:80619759-80619760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572550046	chr7:80619802-80619803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs114507341	chr7:80619807-80619808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555178466	chr7:80619838-80619839	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558539096	chr7:80619851-80619852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575272821	chr7:80619854-80619855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541122136	chr7:80619876-80619877	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183861737	chr7:80619936-80619937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs187923737	chr7:80619975-80619976	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs193184910	chr7:80619986-80619987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533139532	chr7:80620020-80620021	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540582704	chr7:80620033-80620034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560464051	chr7:80620042-80620043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528506306	chr7:80620045-80620046	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548515517	chr7:80620062-80620063	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568481779	chr7:80620066-80620067	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530997086	chr7:80620070-80620071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550779187	chr7:80620098-80620099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570738528	chr7:80620099-80620100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs55904252	chr7:80620114-80620115	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs398005274	chr7:80620127-80620128	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs58791909	chr7:80620132-80620133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539641250	chr7:80620135-80620136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553290915	chr7:80620168-80620169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566782562	chr7:80620173-80620174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535127791	chr7:80620180-80620181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368252972	chr7:80620199-80620200	Inactive region	Chromatin interactive region	1 gene(s)	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	21293372	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80621600-80622000	Enhancers	Fetal Heart	heart
2	chr7:80624000-80624800	Enhancers	Brain Germinal Matrix	brain
3	chr7:80624800-80627000	Weak transcription	Brain Germinal Matrix	brain
4	chr7:80625200-80625400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:80625400-80638200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:80626600-80631800	Enhancers	Fetal Brain Male	brain
7	chr7:80627000-80629000	Enhancers	Brain Germinal Matrix	brain
8	chr7:80627200-80627400	Enhancers	NHDF-Ad	bronchial
9	chr7:80627200-80628200	Enhancers	Fetal Brain Female	brain
10	chr7:80627800-80630200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:80628200-80629000	Weak transcription	Fetal Brain Female	brain
12	chr7:80628200-80629200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:80628400-80628800	Enhancers	Pancreas	Pancrea
14	chr7:80629000-80629400	Enhancers	Fetal Brain Female	brain
15	chr7:80629000-80632800	Weak transcription	Brain Germinal Matrix	brain
16	chr7:80629400-80631800	Weak transcription	Fetal Brain Female	brain
17	chr7:80630200-80631600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:80631200-80631400	Enhancers	Fetal Muscle Leg	muscle
19	chr7:80631400-80632600	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:80631600-80631800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:80631600-80631800	Enhancers	HSMM	muscle
22	chr7:80631600-80631800	Weak transcription	NHDF-Ad	bronchial
23	chr7:80631600-80632000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:80631600-80632000	Enhancers	Colon Smooth Muscle	Colon
25	chr7:80631800-80632000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:80631800-80632000	Enhancers	Adipose Nuclei	Adipose
27	chr7:80631800-80632000	Enhancers	NHDF-Ad	bronchial
28	chr7:80631800-80632200	Enhancers	Fetal Brain Female	brain
29	chr7:80631800-80632200	Enhancers	Rectal Smooth Muscle	rectum
30	chr7:80631800-80632600	Weak transcription	Fetal Brain Male	brain
31	chr7:80631800-80633600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:80632000-80632400	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:80632000-80633000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:80632000-80633000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:80632000-80633200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:80632000-80633200	Weak transcription	Adipose Nuclei	Adipose
37	chr7:80632000-80633200	Weak transcription	HSMM	muscle
38	chr7:80632000-80633200	Weak transcription	NHDF-Ad	bronchial
39	chr7:80632200-80632600	Active TSS	Fetal Brain Female	brain
40	chr7:80632200-80632600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:80632400-80635000	Enhancers	Colon Smooth Muscle	Colon
42	chr7:80632600-80632800	Flanking Active TSS	Fetal Brain Female	brain
43	chr7:80632600-80632800	Enhancers	Rectal Smooth Muscle	rectum
44	chr7:80632600-80633000	Enhancers	Fetal Muscle Leg	muscle
45	chr7:80632600-80633200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:80632600-80634800	Enhancers	Fetal Brain Male	brain
47	chr7:80632800-80633200	Enhancers	Brain Germinal Matrix	brain
48	chr7:80632800-80633800	Enhancers	Fetal Brain Female	brain
49	chr7:80632800-80635800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:80633000-80633200	Weak transcription	Fetal Muscle Leg	muscle

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