Variant report

Variant	nsv437186
Chromosome Location	chr20:52309454-52315311
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:50831023..50833009-chr20:52308051..52309841,2	MCF-7	breast:
2	chr14:69260613..69262497-chr20:52311916..52313959,2	MCF-7	breast:
3	chr20:52309522..52310475-chr20:52556126..52556882,2	MCF-7	breast:
4	chr20:52308200..52309884-chr20:55825666..55827903,2	MCF-7	breast:
5	chr20:52307812..52309721-chr3:63849166..63851714,2	MCF-7	breast:
6	chr17:59660286..59662351-chr20:52311555..52314413,2	MCF-7	breast:
7	chr19:58330491..58331019-chr20:52311098..52311619,2	HCT-116	colon:
8	chr20:52314309..52316866-chr20:52352665..52355396,2	K562	blood:
9	chr20:52194937..52195494-chr20:52309137..52309804,2	MCF-7	breast:
10	chr2:11670272..11672993-chr20:52308680..52310728,2	MCF-7	breast:
11	chr17:56708809..56710883-chr20:52313597..52315245,2	MCF-7	breast:
12	chr20:46130741..46132539-chr20:52314779..52317752,2	MCF-7	breast:
13	chr17:57912841..57917165-chr20:52306237..52309842,4	MCF-7	breast:
14	chr1:149856801..149859523-chr20:52313745..52318047,3	MCF-7	breast:
15	chr20:52309398..52311832-chr20:52327074..52329815,2	K562	blood:
16	chr17:56735041..56736907-chr20:52311240..52314004,2	MCF-7	breast:
17	chr17:57919004..57920668-chr20:52306707..52309485,2	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
ENSG00000212195	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000131408	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000131398	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000185650	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000178096	chromatin interactions

Extended variants
information (count: 289 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6091731	chr20:52309454-52309455	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs575210375	chr20:52309588-52309589	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs544296516	chr20:52309640-52309641	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs8119104	chr20:52309643-52309644	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6013760	chr20:52309649-52309650	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs6022670	chr20:52309657-52309658	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73281900	chr20:52309709-52309710	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532720016	chr20:52309731-52309732	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs552526183	chr20:52309741-52309742	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs376305994	chr20:52309742-52309743	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs531621147	chr20:52309748-52309749	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs548520577	chr20:52309753-52309754	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs570407636	chr20:52309759-52309760	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs182850987	chr20:52309760-52309761	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs34797968	chr20:52309772-52309773	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs374899366	chr20:52309797-52309798	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs536030691	chr20:52309823-52309824	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs552797474	chr20:52309833-52309834	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs566737890	chr20:52309844-52309845	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186125240	chr20:52309873-52309874	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191265232	chr20:52309888-52309889	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371049328	chr20:52309897-52309898	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182689826	chr20:52309902-52309903	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78333817	chr20:52309920-52309921	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs6022671	chr20:52310039-52310040	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs6022672	chr20:52310068-52310069	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187423930	chr20:52310141-52310142	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532753240	chr20:52310142-52310143	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs6022673	chr20:52310172-52310173	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563202248	chr20:52310173-52310174	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533476242	chr20:52310223-52310224	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150427545	chr20:52310226-52310227	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546639664	chr20:52310257-52310258	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs377452616	chr20:52310259-52310260	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566743232	chr20:52310260-52310261	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548219407	chr20:52310261-52310262	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568213168	chr20:52310265-52310266	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112551493	chr20:52310272-52310273	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546758633	chr20:52310330-52310331	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566520510	chr20:52310343-52310344	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535616065	chr20:52310363-52310364	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111524636	chr20:52310379-52310380	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373973506	chr20:52310389-52310390	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs192215782	chr20:52310399-52310400	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs6068628	chr20:52310400-52310401	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554630710	chr20:52310401-52310402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574566292	chr20:52310408-52310409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183148246	chr20:52310462-52310463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs367836563	chr20:52310488-52310489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199888951	chr20:52310574-52310575	Weak transcription Enhancers	n/a	n/a	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52305600-52311200	Weak transcription	Stomach Mucosa	stomach
2	chr20:52307600-52309600	Enhancers	Placenta	Placenta
3	chr20:52307800-52310000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr20:52308000-52309600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr20:52308000-52309600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:52308000-52309800	Enhancers	Osteobl	bone
7	chr20:52308200-52309600	Enhancers	GM12878-XiMat	blood
8	chr20:52308200-52310000	Enhancers	NH-A	brain
9	chr20:52308200-52310200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:52308200-52310400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr20:52308400-52309600	Enhancers	Esophagus	oesophagus
12	chr20:52308400-52309800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr20:52308400-52310000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:52308800-52310000	Enhancers	NHDF-Ad	bronchial
15	chr20:52309000-52309600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr20:52309000-52309800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:52309000-52309800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr20:52309000-52310000	Enhancers	NHLF	lung
19	chr20:52309000-52310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr20:52309000-52310400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr20:52309200-52309600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr20:52309200-52309600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr20:52309200-52309600	Enhancers	Primary T cells from cord blood	blood
24	chr20:52309200-52309600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr20:52309200-52309600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr20:52309200-52309600	Enhancers	Adipose Nuclei	Adipose
27	chr20:52309200-52309600	Enhancers	Fetal Muscle Trunk	muscle
28	chr20:52309200-52309600	Enhancers	Fetal Stomach	stomach
29	chr20:52309200-52309600	Enhancers	HSMM	muscle
30	chr20:52309200-52309800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr20:52309200-52309800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr20:52309200-52309800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr20:52309200-52309800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr20:52309200-52309800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr20:52309200-52309800	Enhancers	Dnd41	blood
36	chr20:52309200-52310000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:52309200-52310000	Enhancers	HUVEC	blood vessel
38	chr20:52309200-52310200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr20:52309200-52310200	Enhancers	Duodenum Mucosa	Duodenum
40	chr20:52309200-52310200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr20:52309200-52310400	Enhancers	Primary B cells from peripheral blood	blood
42	chr20:52309200-52310400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr20:52309200-52310400	Enhancers	Fetal Thymus	thymus
44	chr20:52309200-52310600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr20:52309400-52309600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr20:52309400-52309800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr20:52309400-52309800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr20:52309400-52309800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr20:52309400-52309800	Enhancers	Fetal Lung	lung
50	chr20:52309400-52310000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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