Variant report

Variant	nsv521233
Chromosome Location	chr7:119686018-119697233
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:119690478..119693028-chr7:119696075..119698401,3	K562	blood:
2	chr7:119694463..119697306-chr7:119701303..119702892,2	K562	blood:
3	chr7:119694731..119696428-chr7:119698965..119701883,2	K562	blood:
4	chr7:119685611..119688209-chr7:119717073..119719520,2	K562	blood:
5	chr7:119544617..119547371-chr7:119688407..119692790,3	K562	blood:
6	chr7:119689166..119691209-chr7:119692487..119694481,2	K562	blood:
7	chr7:119689166..119691209-chr7:119692487..119694481,2	K562	blood:
8	chr7:119672017..119673637-chr7:119693207..119695015,2	MCF-7	breast:
9	chr7:119690478..119693028-chr7:119696075..119698401,3	K562	blood:

No data

Extended variants
information (count: 431 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10270624	chr7:119686018-119686019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545219289	chr7:119686019-119686020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183519689	chr7:119686028-119686029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563250964	chr7:119686031-119686032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376198637	chr7:119686078-119686079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10270748	chr7:119686120-119686121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs187539513	chr7:119686145-119686146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528432697	chr7:119686200-119686201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138267309	chr7:119686203-119686204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372989771	chr7:119686277-119686278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571538844	chr7:119686382-119686383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537260516	chr7:119686400-119686401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79511218	chr7:119686419-119686420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149649763	chr7:119686420-119686421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114845083	chr7:119686445-119686446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191059136	chr7:119686456-119686457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566511471	chr7:119686586-119686587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115495408	chr7:119686630-119686631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558842578	chr7:119686635-119686636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73721050	chr7:119686639-119686640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550015110	chr7:119686643-119686644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544486314	chr7:119686674-119686675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555095340	chr7:119686693-119686694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375749409	chr7:119686754-119686755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144378566	chr7:119686801-119686802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138681050	chr7:119686820-119686821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111667173	chr7:119686852-119686853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528117707	chr7:119686866-119686867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544986819	chr7:119686870-119686871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142680334	chr7:119686895-119686896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565187636	chr7:119686919-119686920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182202340	chr7:119687058-119687059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147381769	chr7:119687176-119687177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576691165	chr7:119687197-119687198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529231320	chr7:119687216-119687217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567444576	chr7:119687222-119687223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530168829	chr7:119687233-119687234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139513192	chr7:119687252-119687253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566597534	chr7:119687258-119687259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548982629	chr7:119687273-119687274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538661106	chr7:119687274-119687275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186760402	chr7:119687303-119687304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569209374	chr7:119687312-119687313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142562477	chr7:119687332-119687333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554901219	chr7:119687338-119687339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150571032	chr7:119687341-119687342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192662470	chr7:119687348-119687349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553120372	chr7:119687379-119687380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572935722	chr7:119687387-119687388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545026683	chr7:119687394-119687395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119685000-119686400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:119685000-119686800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:119685000-119686800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:119685200-119686400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:119685200-119686600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:119686200-119687000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:119686800-119689800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:119687400-119687600	Active TSS	K562	blood
9	chr7:119687600-119692800	Weak transcription	K562	blood
10	chr7:119690600-119691000	Enhancers	Ovary	ovary
11	chr7:119690800-119691600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:119690800-119692400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:119690800-119695200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:119691000-119691400	Weak transcription	Ovary	ovary
15	chr7:119691000-119692600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:119691000-119692800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:119691000-119692800	Enhancers	Adipose Nuclei	Adipose
18	chr7:119691000-119695200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:119691200-119691600	Enhancers	HSMMtube	muscle
20	chr7:119691200-119691800	Enhancers	Osteobl	bone
21	chr7:119691200-119692000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:119691200-119692000	Enhancers	HSMM	muscle
23	chr7:119691400-119691600	Enhancers	Ovary	ovary
24	chr7:119691400-119692000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:119691600-119692800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:119691600-119692800	Weak transcription	Ovary	ovary
27	chr7:119691600-119692800	Weak transcription	HSMMtube	muscle
28	chr7:119691800-119692200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:119691800-119692600	Weak transcription	Osteobl	bone
30	chr7:119692000-119692800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:119692000-119692800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:119692000-119692800	Weak transcription	HSMM	muscle
33	chr7:119692200-119692400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:119692400-119692800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:119692400-119692800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:119692400-119692800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr7:119692400-119693000	Enhancers	NHLF	lung
38	chr7:119692600-119692800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:119692600-119696000	Enhancers	Osteobl	bone
40	chr7:119692800-119693000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:119692800-119693000	Enhancers	K562	blood
42	chr7:119692800-119693200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:119692800-119693200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:119692800-119693200	Flanking Active TSS	Ovary	ovary
45	chr7:119692800-119693400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:119692800-119693600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:119692800-119693800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:119692800-119693800	Weak transcription	Adipose Nuclei	Adipose
49	chr7:119692800-119693800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr7:119692800-119694000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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