Variant report

Variant	nsv526409
Chromosome Location	chr7:12343463-12344706
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	chr7:12248340..12250610-chr7:12341759..12344659,2	K562	blood:
2	chr7:12249110..12251929-chr7:12341759..12344024,2	K562	blood:

Variant related genes	Relation type
ENSG00000106460	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12673036	chr7:12343463-12343464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376826528	chr7:12343475-12343476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545854360	chr7:12343492-12343493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562463991	chr7:12343502-12343503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532072058	chr7:12343509-12343510	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112528059	chr7:12343550-12343551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111489140	chr7:12343581-12343582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141459951	chr7:12343585-12343586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79261283	chr7:12343615-12343616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181500143	chr7:12343637-12343638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570574131	chr7:12343653-12343654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs6969825	chr7:12343656-12343657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs111893387	chr7:12343657-12343658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187029632	chr7:12343705-12343706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569695694	chr7:12343740-12343741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538155153	chr7:12343757-12343758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554537188	chr7:12343770-12343771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574577338	chr7:12343785-12343786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77654079	chr7:12343798-12343799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553922773	chr7:12343822-12343823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs72586705	chr7:12343827-12343828	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150409390	chr7:12343833-12343834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189453010	chr7:12343840-12343841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs181507193	chr7:12343860-12343861	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542512580	chr7:12343870-12343871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117781986	chr7:12343879-12343880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116303066	chr7:12343885-12343886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541295168	chr7:12343895-12343896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111497268	chr7:12343901-12343902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368529936	chr7:12343902-12343903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564315685	chr7:12343914-12343915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115301658	chr7:12343924-12343925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549825271	chr7:12343930-12343931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs59821876	chr7:12343941-12343942	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529246605	chr7:12343946-12343947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534306028	chr7:12343990-12343991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548481472	chr7:12344057-12344058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12539290	chr7:12344101-12344102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534073103	chr7:12344109-12344110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185255546	chr7:12344118-12344119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577530404	chr7:12344145-12344146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540011965	chr7:12344218-12344219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556924539	chr7:12344242-12344243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570651857	chr7:12344243-12344244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190013171	chr7:12344244-12344245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183358962	chr7:12344269-12344270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75546530	chr7:12344304-12344305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541425766	chr7:12344306-12344307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73296303	chr7:12344308-12344309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572676143	chr7:12344327-12344328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Multiple myeloma	17550852	CNVD
Schizophrenia	23813976	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12338400-12359200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:12339600-12360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:12342200-12343600	Enhancers	NHEK	skin
4	chr7:12342200-12343800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:12342400-12343600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:12342400-12343600	Enhancers	HMEC	breast
7	chr7:12342800-12343600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:12342800-12343600	Enhancers	NH-A	brain
9	chr7:12343400-12343600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:12343400-12343600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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