Variant report

Variant	nsv517748
Chromosome Location	chr20:52304108-52315311
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:33)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52314309..52316866-chr20:52352665..52355396,2	K562	blood:
2	chr20:52228019..52229603-chr20:52306095..52308452,2	K562	blood:
3	chr17:56735041..56736907-chr20:52311240..52314004,2	MCF-7	breast:
4	chr17:57912841..57917165-chr20:52306237..52309842,4	MCF-7	breast:
5	chr17:57919004..57920668-chr20:52306707..52309485,2	MCF-7	breast:
6	chr19:58330491..58331019-chr20:52311098..52311619,2	HCT-116	colon:
7	chr20:52308187..52308718-chr20:52402442..52403401,2	MCF-7	breast:
8	chr20:52307525..52309246-chr20:53054454..53056868,2	MCF-7	breast:
9	chr19:33666280..33667890-chr20:52306739..52308440,2	MCF-7	breast:
10	chr20:52296496..52297267-chr20:52307610..52308510,2	MCF-7	breast:
11	chr20:46380769..46382731-chr20:52303273..52305582,2	MCF-7	breast:
12	chr20:52195438..52195946-chr20:52307913..52308485,2	MCF-7	breast:
13	chr1:149222759..149224260-chr20:52302981..52304779,2	MCF-7	breast:
14	chr20:52309398..52311832-chr20:52327074..52329815,2	K562	blood:
15	chr17:56707927..56710808-chr20:52300951..52304880,3	MCF-7	breast:
16	chr2:11670272..11672993-chr20:52308680..52310728,2	MCF-7	breast:
17	chr20:52309522..52310475-chr20:52556126..52556882,2	MCF-7	breast:
18	chr20:52307812..52309721-chr3:63849166..63851714,2	MCF-7	breast:
19	chr20:46130741..46132539-chr20:52314779..52317752,2	MCF-7	breast:
20	chr20:52306558..52308281-chr20:55848307..55850498,2	MCF-7	breast:
21	chr20:52308200..52309884-chr20:55825666..55827903,2	MCF-7	breast:
22	chr17:59660286..59662351-chr20:52311555..52314413,2	MCF-7	breast:
23	chr19:50831023..50833009-chr20:52308051..52309841,2	MCF-7	breast:
24	chr1:201975961..201978820-chr20:52302620..52304972,2	MCF-7	breast:
25	chr20:52304390..52307207-chr3:119040892..119043162,2	MCF-7	breast:
26	chr17:57917673..57919599-chr20:52306135..52308128,2	MCF-7	breast:
27	chr20:52194937..52195494-chr20:52309137..52309804,2	MCF-7	breast:
28	chr17:56708809..56710883-chr20:52313597..52315245,2	MCF-7	breast:
29	chr1:149856801..149859523-chr20:52313745..52318047,3	MCF-7	breast:
30	chr20:52301128..52304461-chr20:52354219..52358396,5	K562	blood:
31	chr20:52195938..52196885-chr20:52306721..52307713,2	MCF-7	breast:
32	chr20:52304131..52305727-chr20:55839654..55841728,2	MCF-7	breast:
33	chr14:69260613..69262497-chr20:52311916..52313959,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSHZ2-10	chr20:52311844-52313139	NONHSAT080400

No data

Variant related genes	Relation type
ENSG00000184270	chromatin interactions
ENSG00000185650	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000163435	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000241155	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000131398	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000131408	chromatin interactions
ENSG00000178096	chromatin interactions

Extended variants
information (count: 535 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4809932	chr20:52304108-52304109	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6063977	chr20:52304129-52304130	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs191321505	chr20:52304172-52304173	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs548332501	chr20:52304190-52304191	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs181736435	chr20:52304234-52304235	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs6068626	chr20:52304239-52304240	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs534054688	chr20:52304312-52304313	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs552732834	chr20:52304316-52304317	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs566097376	chr20:52304342-52304343	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs368919364	chr20:52304358-52304359	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs6022661	chr20:52304381-52304382	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs538467785	chr20:52304419-52304420	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs558776042	chr20:52304435-52304436	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs534276010	chr20:52304438-52304439	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs143282106	chr20:52304451-52304452	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs147538976	chr20:52304472-52304473	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs6068627	chr20:52304485-52304486	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs535053998	chr20:52304487-52304488	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs371859958	chr20:52304521-52304522	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs554983348	chr20:52304542-52304543	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs138247723	chr20:52304558-52304559	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs73134236	chr20:52304560-52304561	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540298996	chr20:52304579-52304580	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs186040254	chr20:52304603-52304604	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs115453597	chr20:52304615-52304616	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs6022662	chr20:52304627-52304628	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs563185786	chr20:52304673-52304674	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs6022663	chr20:52304674-52304675	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs6097527	chr20:52304681-52304682	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs190843948	chr20:52304686-52304687	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs6022665	chr20:52304724-52304725	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs183269471	chr20:52304779-52304780	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs568148747	chr20:52304790-52304791	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs143884071	chr20:52304843-52304844	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs547458074	chr20:52304920-52304921	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs144283044	chr20:52304954-52304955	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs538437133	chr20:52304987-52304988	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs186459684	chr20:52305012-52305013	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs577321776	chr20:52305015-52305016	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs569113244	chr20:52305024-52305025	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537787539	chr20:52305062-52305063	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs554865387	chr20:52305068-52305069	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs574460877	chr20:52305077-52305078	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs191101133	chr20:52305112-52305113	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs58310696	chr20:52305113-52305114	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113673010	chr20:52305121-52305122	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs6022666	chr20:52305132-52305133	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182715761	chr20:52305147-52305148	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs113463200	chr20:52305165-52305166	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs528467289	chr20:52305196-52305197	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52297600-52305400	Weak transcription	A549	lung
2	chr20:52298800-52305400	Weak transcription	HepG2	liver
3	chr20:52303000-52305400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr20:52303000-52307600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr20:52303000-52308000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:52303000-52308000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr20:52303000-52308000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:52303000-52309200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr20:52303000-52309200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr20:52303000-52309400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr20:52303000-52309400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr20:52303200-52307600	Weak transcription	Placenta	Placenta
13	chr20:52303400-52304600	Weak transcription	Fetal Thymus	thymus
14	chr20:52303400-52304800	Weak transcription	Dnd41	blood
15	chr20:52303400-52308400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr20:52303400-52309200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr20:52304000-52305800	Enhancers	GM12878-XiMat	blood
18	chr20:52304600-52305800	Enhancers	Fetal Thymus	thymus
19	chr20:52304800-52305800	Enhancers	Dnd41	blood
20	chr20:52305200-52305400	Weak transcription	Stomach Mucosa	stomach
21	chr20:52305400-52305600	Enhancers	Stomach Mucosa	stomach
22	chr20:52305400-52305600	Enhancers	Osteobl	bone
23	chr20:52305400-52305800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr20:52305400-52305800	Enhancers	A549	lung
25	chr20:52305400-52305800	Enhancers	HepG2	liver
26	chr20:52305600-52308000	Weak transcription	Osteobl	bone
27	chr20:52305600-52311200	Weak transcription	Stomach Mucosa	stomach
28	chr20:52305800-52307600	Weak transcription	HepG2	liver
29	chr20:52305800-52307800	Weak transcription	A549	lung
30	chr20:52305800-52308200	Weak transcription	GM12878-XiMat	blood
31	chr20:52305800-52309200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr20:52305800-52309200	Weak transcription	Fetal Thymus	thymus
33	chr20:52305800-52309200	Weak transcription	Dnd41	blood
34	chr20:52307400-52307800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr20:52307600-52309400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr20:52307600-52309400	Enhancers	HepG2	liver
37	chr20:52307600-52309600	Enhancers	Placenta	Placenta
38	chr20:52307800-52308600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr20:52307800-52308600	Enhancers	A549	lung
40	chr20:52307800-52308600	Enhancers	HMEC	breast
41	chr20:52307800-52308800	Enhancers	NHEK	skin
42	chr20:52307800-52309400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr20:52307800-52310000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr20:52308000-52308200	Enhancers	Duodenum Mucosa	Duodenum
45	chr20:52308000-52308200	Enhancers	NHDF-Ad	bronchial
46	chr20:52308000-52308400	Enhancers	HUVEC	blood vessel
47	chr20:52308000-52308600	Enhancers	Hela-S3	cervix
48	chr20:52308000-52308800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr20:52308000-52309000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr20:52308000-52309000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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