Variant report

Variant	nsv1066633
Chromosome Location	chr20:1053502-1079678
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:1076079..1077737-chr20:1085363..1086866,2	K562	blood:
2	chr20:1057736..1060094-chr20:1063096..1066523,3	K562	blood:
3	chr20:1057736..1060094-chr20:1063096..1066523,3	K562	blood:
4	chr20:1061274..1062159-chr6:147608690..147609360,2	MCF-7	breast:
5	chr20:1073011..1074850-chr20:1078609..1080944,2	MCF-7	breast:
6	chr20:1073011..1074850-chr20:1078609..1080944,2	MCF-7	breast:
7	chr20:1050140..1053151-chr20:1056219..1057914,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMF1-5	chr20:1076274-1076692	NONHSAT078086

No data

Extended variants
information (count: 494 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141570230	chr20:1054517-1054518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547478694	chr20:1054606-1054607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147024047	chr20:1054620-1054621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542031043	chr20:1054634-1054635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147852900	chr20:1054649-1054650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141430072	chr20:1054673-1054674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569898360	chr20:1054723-1054724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2317425	chr20:1054801-1054802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539807951	chr20:1054815-1054816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191471133	chr20:1054837-1054838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560136698	chr20:1054867-1054868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572258338	chr20:1054879-1054880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143576219	chr20:1055033-1055034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184789870	chr20:1055034-1055035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577745596	chr20:1055043-1055044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543369621	chr20:1055054-1055055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563064506	chr20:1055058-1055059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189518419	chr20:1055101-1055102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532303071	chr20:1055111-1055112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148029634	chr20:1055119-1055120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562350232	chr20:1055133-1055134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75731047	chr20:1055216-1055217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547514897	chr20:1055233-1055234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59448987	chr20:1055234-1055235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369393277	chr20:1055353-1055354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77362683	chr20:1055363-1055364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398035175	chr20:1055364-1055365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138417685	chr20:1055406-1055407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141538394	chr20:1055407-1055408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146179047	chr20:1055448-1055449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112190037	chr20:1055488-1055489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535359515	chr20:1055497-1055498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182020611	chr20:1055512-1055513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531500710	chr20:1055619-1055620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565908355	chr20:1055674-1055675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548407642	chr20:1055689-1055690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534793153	chr20:1055713-1055714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557899936	chr20:1055714-1055715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6057111	chr20:1055720-1055721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs372385916	chr20:1055739-1055740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186648406	chr20:1055856-1055857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573549785	chr20:1055932-1055933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542559616	chr20:1055937-1055938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6057113	chr20:1055985-1055986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201706471	chr20:1055997-1055998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369567416	chr20:1056003-1056004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557669405	chr20:1056058-1056059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200306230	chr20:1056060-1056061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143037502	chr20:1056088-1056089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144356927	chr20:1056107-1056108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
XY gonadal dysgenesis	20685758	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1054400-1060000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:1056200-1056600	Enhancers	Primary B cells from peripheral blood	blood
3	chr20:1056200-1056600	Enhancers	GM12878-XiMat	blood
4	chr20:1056400-1056800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr20:1056400-1056800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr20:1062400-1063000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr20:1064400-1064600	ZNF genes & repeats	K562	blood
8	chr20:1064600-1066200	Weak transcription	K562	blood
9	chr20:1066200-1066400	Enhancers	K562	blood
10	chr20:1066200-1066600	Enhancers	Primary hematopoietic stem cells	blood
11	chr20:1066200-1068400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr20:1066200-1068600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr20:1066200-1068600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:1066400-1066800	Flanking Active TSS	K562	blood
15	chr20:1066600-1066800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr20:1066600-1067600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr20:1066800-1067200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr20:1066800-1068800	Enhancers	K562	blood
19	chr20:1067000-1067400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr20:1067000-1067800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr20:1067000-1067800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr20:1067200-1067400	Enhancers	Fetal Muscle Leg	muscle
23	chr20:1067200-1067400	Enhancers	GM12878-XiMat	blood
24	chr20:1067200-1067800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr20:1067200-1068200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr20:1067400-1067600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr20:1067400-1067800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr20:1067400-1068200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr20:1067400-1068600	Enhancers	HSMMtube	muscle
30	chr20:1067600-1067800	Enhancers	Primary hematopoietic stem cells	blood
31	chr20:1067800-1068000	Weak transcription	Fetal Muscle Leg	muscle
32	chr20:1067800-1068400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr20:1068000-1068200	Enhancers	GM12878-XiMat	blood
34	chr20:1068000-1068800	Enhancers	Fetal Muscle Leg	muscle
35	chr20:1068200-1068600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr20:1068200-1068600	Enhancers	HSMM	muscle
37	chr20:1068400-1068600	Enhancers	Primary hematopoietic stem cells	blood
38	chr20:1068800-1069200	Weak transcription	Fetal Muscle Leg	muscle
39	chr20:1069200-1071200	Enhancers	Fetal Muscle Leg	muscle
40	chr20:1075000-1075800	Enhancers	Fetal Kidney	kidney
41	chr20:1075200-1075800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr20:1075200-1076000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr20:1075200-1076000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr20:1075400-1076000	Enhancers	NHDF-Ad	bronchial
45	chr20:1075400-1077400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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