Variant report

Variant	esv3394406
Chromosome Location	chr1:190993344-191015481
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191006072..191007919-chr7:61967833..61970042,2	MCF-7	breast:
2	chr1:191013676..191015855-chr1:191017030..191019137,2	K562	blood:
3	chr1:191010882..191013695-chr1:191014255..191017163,2	K562	blood:
4	chr1:191010882..191013695-chr1:191014255..191017163,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-8	chr1:191001792-191001930	l_159_chr1:191000527-191001930_76bGuttman_hLF
2	lnc-FAM5C-8	chr1:191000528-191000708	l_159_chr1:191000527-191001930_76bGuttman_hLF

No data

Extended variants
information (count: 144 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188975587	chr1:190993344-190993345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530018283	chr1:190993353-190993354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7525875	chr1:190993395-190993396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369053009	chr1:190993420-190993421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575237314	chr1:190993457-190993458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12135981	chr1:190993489-190993490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569347835	chr1:190993491-190993492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538570375	chr1:190993548-190993549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182063688	chr1:190993568-190993569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186418717	chr1:190993576-190993577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11347009	chr1:190993606-190993607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201209451	chr1:190993607-190993608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7515729	chr1:190993610-190993611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs74850992	chr1:190993628-190993629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576970558	chr1:190993643-190993644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545579642	chr1:190993647-190993648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562745427	chr1:190993684-190993685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531391643	chr1:190993716-190993717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180688266	chr1:190993759-190993760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6428031	chr1:190993821-190993822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138012001	chr1:190993852-190993853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186657017	chr1:190993872-190993873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6663377	chr1:190993878-190993879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560217094	chr1:190993885-190993886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191046815	chr1:190993889-190993890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6428032	chr1:190993896-190993897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs112524904	chr1:190993904-190993905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6660833	chr1:190993925-190993926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548883236	chr1:190993946-190993947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568734187	chr1:190993964-190993965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563323298	chr1:190994045-190994046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533778141	chr1:190994052-190994053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570840569	chr1:190994056-190994057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553754295	chr1:190994064-190994065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142597049	chr1:190994080-190994081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539556290	chr1:190994096-190994097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555966046	chr1:190994099-190994100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573793312	chr1:190994107-190994108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576210676	chr1:190994122-190994123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541626288	chr1:190994124-190994125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145961887	chr1:190994132-190994133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183210003	chr1:190994171-190994172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540922150	chr1:190994174-190994175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560154444	chr1:190994210-190994211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74393689	chr1:190994213-190994214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552667051	chr1:190994214-190994215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562810277	chr1:190994217-190994218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531945887	chr1:190994227-190994228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548450359	chr1:190994228-190994229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9970366	chr1:190994234-190994235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190992200-190995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:190995200-190995600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:190995200-190995600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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