Variant report

Variant	nsv608264
Chromosome Location	chr7:118326364-118372845
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:118332371..118334737-chr7:118361575..118363524,2	K562	blood:
2	chr7:118332371..118334737-chr7:118361575..118363524,2	K562	blood:
3	chr7:118326896..118329034-chr7:118330450..118332850,2	K562	blood:
4	chr7:118115547..118117412-chr7:118338324..118340087,2	K562	blood:
5	chr7:118325830..118329034-chr7:118330812..118333128,3	K562	blood:
6	chr7:118325830..118329034-chr7:118330812..118333128,3	K562	blood:
7	chr7:118222091..118224813-chr7:118367920..118370532,2	K562	blood:
8	chr7:118343314..118345898-chr7:118349498..118351175,2	K562	blood:
9	chr7:118326896..118329034-chr7:118330450..118332850,2	K562	blood:
10	chr19:14247978..14248624-chr7:118355435..118356054,2	MCF-7	breast:
11	chr7:118343314..118345898-chr7:118349498..118351175,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267169	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564529141	chr7:118336445-118336446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182641143	chr7:118336448-118336449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371467800	chr7:118336451-118336452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527762161	chr7:118336519-118336520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533172900	chr7:118336536-118336537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146495519	chr7:118336618-118336619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374752084	chr7:118336626-118336627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187602324	chr7:118336679-118336680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540072032	chr7:118336684-118336685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374999102	chr7:118336689-118336690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78366605	chr7:118336704-118336705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10085649	chr7:118336736-118336737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs368033027	chr7:118336744-118336745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550144080	chr7:118336758-118336759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537422155	chr7:118336832-118336833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11767120	chr7:118336837-118336838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs143167237	chr7:118336859-118336860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs778849	chr7:118336886-118336887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553882459	chr7:118336935-118336936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192804267	chr7:118336936-118336937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545989847	chr7:118336941-118336942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562457891	chr7:118336944-118336945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562736565	chr7:118337016-118337017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576424491	chr7:118337077-118337078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542170938	chr7:118337095-118337096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369732507	chr7:118337134-118337135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562043915	chr7:118337137-118337138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150888321	chr7:118337144-118337145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547570928	chr7:118337174-118337175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564607335	chr7:118337232-118337233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533322549	chr7:118337288-118337289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372409393	chr7:118337295-118337296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139399985	chr7:118337331-118337332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569944814	chr7:118337338-118337339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182947102	chr7:118337349-118337350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535732088	chr7:118337351-118337352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375956194	chr7:118337390-118337391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34970178	chr7:118337409-118337410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549307917	chr7:118337424-118337425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567717553	chr7:118337427-118337428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533788203	chr7:118337445-118337446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553549235	chr7:118337485-118337486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576888419	chr7:118337490-118337491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs811396	chr7:118337507-118337508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187290618	chr7:118337514-118337515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75575115	chr7:118337528-118337529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13224774	chr7:118337552-118337553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10257542	chr7:118337556-118337557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553460541	chr7:118337564-118337565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192058811	chr7:118337566-118337567	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118336400-118337600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:118348800-118349200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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