Variant report

Variant	nsv608309
Chromosome Location	chr7:118923413-118973152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:118917919..118920251-chr7:118925221..118926809,2	K562	blood:
2	chr7:118938874..118939826-chr7:129751362..129752092,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73221173	chr7:118927876-118927877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115734151	chr7:118927911-118927912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551019992	chr7:118927990-118927991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567785968	chr7:118928060-118928061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536808089	chr7:118928104-118928105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138431680	chr7:118928114-118928115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567165261	chr7:118928116-118928117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190486108	chr7:118928162-118928163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528405989	chr7:118928165-118928166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142777312	chr7:118928179-118928180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183701418	chr7:118928210-118928211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536766680	chr7:118928216-118928217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs308177	chr7:118928231-118928232	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs573762458	chr7:118928277-118928278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542403750	chr7:118928281-118928282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187089044	chr7:118928291-118928292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572779314	chr7:118928319-118928320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78851089	chr7:118928342-118928343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539612793	chr7:118952214-118952215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367788689	chr7:118952275-118952276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556045677	chr7:118952280-118952281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576291771	chr7:118952329-118952330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541732061	chr7:118952332-118952333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561765623	chr7:118952401-118952402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572094274	chr7:118952428-118952429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371310147	chr7:118952446-118952447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77682931	chr7:118952457-118952458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370834315	chr7:118952460-118952461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564234068	chr7:118952463-118952464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574194042	chr7:118952565-118952566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533387783	chr7:118952619-118952620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191405722	chr7:118952621-118952622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563683962	chr7:118952673-118952674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529611688	chr7:118952677-118952678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183765181	chr7:118952739-118952740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549377913	chr7:118952747-118952748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114452749	chr7:118952749-118952750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374214560	chr7:118952771-118952772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187759480	chr7:118952783-118952784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547555528	chr7:118952787-118952788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560750780	chr7:118952795-118952796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199964686	chr7:118965064-118965065	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs376402585	chr7:118965072-118965073	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs181871282	chr7:118965106-118965107	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186426957	chr7:118965287-118965288	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs545794985	chr7:118965292-118965293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147432237	chr7:118965347-118965348	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs576143409	chr7:118965365-118965366	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs140686922	chr7:118965366-118965367	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs201247182	chr7:118970615-118970616	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118927800-118928400	Enhancers	Fetal Brain Male	brain
2	chr7:118952200-118952800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:118965000-118965200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:118965200-118965400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:118970600-118971000	Enhancers	Brain Substantia Nigra	brain

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