Variant report

Variant	nsv585436
Chromosome Location	chr20:13447896-13573415
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:13545680..13548329-chr20:13550479..13553310,2	K562	blood:
2	chr20:13467756..13469452-chr20:13473202..13474865,2	MCF-7	breast:
3	chr20:13545680..13548329-chr20:13550479..13553310,2	K562	blood:
4	chr20:13543205..13545985-chr20:13547825..13549640,2	MCF-7	breast:
5	chr20:13556269..13557817-chr20:13617779..13619748,2	MCF-7	breast:
6	chr20:13526812..13528359-chr20:13536217..13539188,2	K562	blood:
7	chr20:13454317..13457886-chr20:13459178..13461231,3	MCF-7	breast:
8	chr20:13467756..13469452-chr20:13473202..13474865,2	MCF-7	breast:
9	chr20:13100265..13100795-chr20:13526790..13527749,2	MCF-7	breast:
10	chr20:13305737..13306312-chr20:13526618..13527354,2	K562	blood:
11	chr20:13439454..13440147-chr20:13526949..13528062,4	MCF-7	breast:
12	chr20:13439318..13440167-chr20:13526983..13527752,3	MCF-7	breast:
13	chr20:13454317..13457886-chr20:13459178..13461231,3	MCF-7	breast:
14	chr20:13439332..13440129-chr20:13526875..13527507,2	K562	blood:
15	chr20:13305344..13306280-chr20:13527310..13528173,2	MCF-7	breast:
16	chr20:13543205..13545985-chr20:13547825..13549640,2	MCF-7	breast:
17	chr20:13099205..13100228-chr20:13526624..13527393,3	MCF-7	breast:
18	chr20:13526812..13528359-chr20:13536217..13539188,2	K562	blood:
19	chr20:13305433..13306398-chr20:13526637..13527817,4	MCF-7	breast:
20	chr20:13442182..13443887-chr20:13469924..13472728,2	MCF-7	breast:
21	chr20:13404058..13404784-chr20:13526885..13527481,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089123	chromatin interactions

Extended variants
information (count: 4530 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:4530 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6042136	chr20:13447896-13447897	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138411431	chr20:13447941-13447942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569114413	chr20:13447965-13447966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371643169	chr20:13447979-13447980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558185530	chr20:13448046-13448047	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569996143	chr20:13448064-13448065	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151224677	chr20:13448065-13448066	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578183108	chr20:13448141-13448142	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533965042	chr20:13448159-13448160	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554203240	chr20:13448172-13448173	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116678968	chr20:13448227-13448228	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6033717	chr20:13448243-13448244	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186402289	chr20:13448278-13448279	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78330214	chr20:13448288-13448289	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17226642	chr20:13448290-13448291	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565061817	chr20:13448324-13448325	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6033718	chr20:13448341-13448342	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531941905	chr20:13448364-13448365	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547118824	chr20:13448389-13448390	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6131477	chr20:13448397-13448398	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372111789	chr20:13448454-13448455	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560561690	chr20:13448590-13448591	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113242300	chr20:13448594-13448595	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6109900	chr20:13448595-13448596	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549489674	chr20:13448611-13448612	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376065698	chr20:13448612-13448613	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151335556	chr20:13448666-13448667	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551031433	chr20:13448672-13448673	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571023028	chr20:13448677-13448678	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369707166	chr20:13448704-13448705	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138990123	chr20:13448727-13448728	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566023579	chr20:13448741-13448742	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141587069	chr20:13448752-13448753	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534495313	chr20:13448784-13448785	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530532400	chr20:13448807-13448808	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150815308	chr20:13448842-13448843	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202125868	chr20:13448849-13448850	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111346808	chr20:13448857-13448858	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs33959066	chr20:13448858-13448859	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60087711	chr20:13448860-13448861	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570491805	chr20:13448876-13448877	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201134175	chr20:13448942-13448943	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58680315	chr20:13448951-13448952	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556709945	chr20:13448959-13448960	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71334122	chr20:13449017-13449018	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386393356	chr20:13449018-13449019	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576460684	chr20:13449031-13449032	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138168595	chr20:13449058-13449059	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113506863	chr20:13449071-13449072	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6131478	chr20:13449074-13449075	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:59)

Disease	PMID	Source
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
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:1825 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13379200-13463000	Weak transcription	HSMM	muscle
2	chr20:13395600-13477800	Weak transcription	Gastric	stomach
3	chr20:13421800-13450000	Weak transcription	Fetal Lung	lung
4	chr20:13422000-13460400	Weak transcription	Primary B cells from cord blood	blood
5	chr20:13422000-13461200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr20:13428400-13448800	Weak transcription	Thymus	Thymus
7	chr20:13430000-13467800	Weak transcription	Ovary	ovary
8	chr20:13430200-13467800	Weak transcription	Pancreas	Pancrea
9	chr20:13432400-13448800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr20:13433800-13452200	Weak transcription	Fetal Intestine Small	intestine
11	chr20:13434000-13450000	Weak transcription	Fetal Intestine Large	intestine
12	chr20:13434800-13449600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr20:13435400-13460400	Weak transcription	Fetal Thymus	thymus
14	chr20:13435400-13462000	Weak transcription	Left Ventricle	heart
15	chr20:13435600-13454200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr20:13435600-13460600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr20:13436600-13458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr20:13436600-13460800	Weak transcription	Primary T cells from cord blood	blood
19	chr20:13438400-13452600	Strong transcription	Dnd41	blood
20	chr20:13438800-13450000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr20:13439600-13450000	Weak transcription	HepG2	liver
22	chr20:13442600-13461800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr20:13442600-13471600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr20:13442800-13467800	Weak transcription	Aorta	Aorta
25	chr20:13443200-13448200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr20:13443400-13461200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr20:13444800-13452400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr20:13445000-13460200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr20:13445400-13467800	Weak transcription	Fetal Stomach	stomach
30	chr20:13445600-13449800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr20:13445600-13450800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr20:13445600-13461000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr20:13446200-13460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr20:13447400-13450000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr20:13447600-13448000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr20:13448000-13450000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr20:13448800-13449600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr20:13449600-13450000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr20:13449600-13450400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr20:13449800-13450200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr20:13450000-13450200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr20:13450000-13450200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr20:13450000-13450200	ZNF genes & repeats	Fetal Lung	lung
44	chr20:13450000-13450400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr20:13450000-13450400	ZNF genes & repeats	HepG2	liver
46	chr20:13450000-13450600	ZNF genes & repeats	Fetal Intestine Large	intestine
47	chr20:13450000-13451000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr20:13450200-13450400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr20:13450200-13460400	Weak transcription	Fetal Lung	lung
50	chr20:13450200-13461000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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