Variant report

Variant	nsv981850
Chromosome Location	chr7:118023835-118030603
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	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:
2	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73485591	chr7:118025619-118025620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372308695	chr7:118025637-118025638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200213948	chr7:118025677-118025678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561008998	chr7:118025685-118025686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183777538	chr7:118025686-118025687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529938651	chr7:118025692-118025693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374588873	chr7:118025721-118025722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560340245	chr7:118025731-118025732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2402353	chr7:118025763-118025764	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs72499548	chr7:118025792-118025793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566980524	chr7:118025809-118025810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546210926	chr7:118025848-118025849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564421686	chr7:118025856-118025857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114953784	chr7:118025862-118025863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369047121	chr7:118025877-118025878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567061753	chr7:118025878-118025879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11766194	chr7:118025923-118025924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs11769403	chr7:118025942-118025943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs188305906	chr7:118025974-118025975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139362721	chr7:118026031-118026032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192989799	chr7:118026034-118026035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs67727942	chr7:118026064-118026065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201481194	chr7:118026076-118026077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs5000271	chr7:118026089-118026090	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs538230067	chr7:118026149-118026150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182660865	chr7:118026151-118026152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547117555	chr7:118026164-118026165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550937390	chr7:118026232-118026233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149627792	chr7:118026233-118026234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538165622	chr7:118026268-118026269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556414412	chr7:118026284-118026285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4260839	chr7:118026285-118026286	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs75673895	chr7:118026327-118026328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4260840	chr7:118026332-118026333	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs371360574	chr7:118026378-118026379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572444861	chr7:118026433-118026434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186983982	chr7:118026475-118026476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147337695	chr7:118026520-118026521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191475483	chr7:118026534-118026535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13221114	chr7:118026582-118026583	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs13221120	chr7:118026595-118026596	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs115736944	chr7:118026612-118026613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529127144	chr7:118026644-118026645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572617768	chr7:118026654-118026655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369892006	chr7:118026659-118026660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10537413	chr7:118026661-118026662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7778764	chr7:118026679-118026680	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559424382	chr7:118026687-118026688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532846577	chr7:118026709-118026710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116141504	chr7:118026723-118026724	Weak transcription 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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118025600-118026000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:118025600-118026000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:118026000-118027400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:118026000-118027800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:118027000-118027800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:118027400-118028000	Enhancers	HUES48 Cell Line	embryonic stem cell

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