Variant report

Variant	nsv1031885
Chromosome Location	chr7:124236838-124268655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:124241436..124243919-chr7:124287196..124289609,2	K562	blood:
2	chr7:124244631..124246147-chr7:124248591..124250431,2	K562	blood:
3	chr7:124235889..124237872-chr7:124241238..124243364,2	K562	blood:
4	chr7:124235889..124237872-chr7:124241238..124243364,2	K562	blood:
5	chr7:124244631..124246147-chr7:124248591..124250431,2	K562	blood:

Variant related genes	Relation type
ENSG00000207214	chromatin interactions

Extended variants
information (count: 198 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141889992	chr7:124237083-124237084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7341514	chr7:124237115-124237116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10954042	chr7:124237138-124237139	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs1524756	chr7:124237196-124237197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs548149156	chr7:124237206-124237207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185275370	chr7:124237226-124237227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115998016	chr7:124237251-124237252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147084565	chr7:124237252-124237253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569918696	chr7:124237352-124237353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138450902	chr7:124237378-124237379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565847757	chr7:124237448-124237449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371419030	chr7:124237451-124237452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1524757	chr7:124237467-124237468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs534504331	chr7:124237494-124237495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557793058	chr7:124237511-124237512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577851176	chr7:124237520-124237521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1524758	chr7:124237543-124237544	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368877754	chr7:124237560-124237561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556938132	chr7:124237578-124237579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78118486	chr7:124237611-124237612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542753472	chr7:124237617-124237618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144016738	chr7:124237626-124237627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143054682	chr7:124237637-124237638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556986160	chr7:124237663-124237664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6975677	chr7:124237668-124237669	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564661827	chr7:124237679-124237680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533695021	chr7:124237711-124237712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189088824	chr7:124237770-124237771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563706023	chr7:124237785-124237786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529211698	chr7:124237797-124237798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549109718	chr7:124237848-124237849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565811456	chr7:124237849-124237850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559152226	chr7:124237891-124237892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534539111	chr7:124237893-124237894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181122453	chr7:124237928-124237929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571324047	chr7:124237957-124237958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148230848	chr7:124237973-124237974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375036790	chr7:124237977-124237978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77770207	chr7:124241449-124241450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547440880	chr7:124241456-124241457	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs76182228	chr7:124241468-124241469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs560737798	chr7:124241472-124241473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539206487	chr7:124241598-124241599	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552620887	chr7:124241599-124241600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569565349	chr7:124241615-124241616	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558794797	chr7:124241621-124241622	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532607227	chr7:124241623-124241624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373724114	chr7:124241630-124241631	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574860942	chr7:124241687-124241688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552777974	chr7:124241809-124241810	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124237000-124237600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:124237000-124237800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:124237000-124238000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:124242600-124243400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:124242800-124243400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:124242800-124243400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:124258600-124259400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:124267800-124268600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:124268600-124270000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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