Variant report

Variant	nsv519430
Chromosome Location	chr7:19855434-19862221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr7:19855858-19855879	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr7:19859386-19859400	GM10266	blood:	n/a	n/a
3	CTCF	chr7:19859402-19859417	GM10266	blood:	n/a	n/a
4	GATA3	chr7:19856720-19856989	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:19860466-19860595	A549	lung:	n/a	n/a
6	POLR2A	chr7:19858388-19858441	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:19855749-19856150	H1-neurons	neurons:	n/a	n/a
8	STAT3	chr7:19861723-19861858	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM196-1	chr7:19856847-19856929	XLOC_006365
2	lnc-TMEM196-1	chr7:19857580-19857713	XLOC_006365
3	lnc-TMEM196-1	chr7:19857580-19857713	ENSG00000237921
4	lnc-TMEM196-1	chr7:19855826-19855937	ENSG00000237921
5	lnc-TMEM196-1	chr7:19856847-19856929	ENSG00000237921
6	lnc-TMEM196-1	chr7:19855826-19855937	XLOC_006365

No data

Variant related genes	Relation type
ENSG00000237921	TF binding region
NID2	miRNA target sites
BCL2	miRNA target sites
ARID3B	miRNA target sites

Extended variants
information (count: 47 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545506766	chr7:19855854-19855855	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs562573964	chr7:19855862-19855863	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs144187396	chr7:19855883-19855884	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs117803893	chr7:19855909-19855910	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs548127479	chr7:19855932-19855933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs536733185	chr7:19855933-19855934	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs548242143	chr7:19856861-19856862	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs115038976	chr7:19856884-19856885	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs185948985	chr7:19856914-19856915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs552282207	chr7:19856919-19856920	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs138446193	chr7:19857591-19857592	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs191206069	chr7:19857630-19857631	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs148851722	chr7:19857638-19857639	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs114049034	chr7:19857655-19857656	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs111501167	chr7:19857679-19857680	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs542157534	chr7:19857710-19857711	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs13307910	chr7:19858392-19858393	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540366446	chr7:19858397-19858398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs562248698	chr7:19858404-19858405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs368720199	chr7:19858410-19858411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs529375403	chr7:19858414-19858415	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs61439074	chr7:19858427-19858428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs550700731	chr7:19858428-19858429	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs547044249	chr7:19858440-19858441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs189216303	chr7:19859416-19859417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs190708162	chr7:19860470-19860471	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs571705015	chr7:19860517-19860518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs539115750	chr7:19860531-19860532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs554356587	chr7:19860540-19860541	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs182133515	chr7:19860557-19860558	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs145612698	chr7:19860563-19860564	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs28870135	chr7:19860564-19860565	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576226126	chr7:19860565-19860566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs543326028	chr7:19860580-19860581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs375448869	chr7:19860588-19860589	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs575423253	chr7:19861730-19861731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs543989637	chr7:19861745-19861746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs565497828	chr7:19861764-19861765	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs371187069	chr7:19861772-19861773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs541743015	chr7:19861777-19861778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs559464322	chr7:19861778-19861779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs573042080	chr7:19861781-19861782	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs75300132	chr7:19861788-19861789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs78285808	chr7:19861792-19861793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs75601182	chr7:19861793-19861794	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs138504627	chr7:19861840-19861841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs548382390	chr7:19861842-19861843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	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
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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