Variant report

Variant	nsv1061455
Chromosome Location	chr20:24733120-24861801
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:48)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:24755822..24758667-chr20:24759812..24761777,2	MCF-7	breast:
2	chr20:24760897..24762927-chr20:24971923..24974297,2	MCF-7	breast:
3	chr20:24811551..24814210-chr20:24854321..24856444,2	MCF-7	breast:
4	chr20:24751479..24753898-chr20:24757094..24759323,2	MCF-7	breast:
5	chr20:24763560..24765112-chr20:24971515..24973811,2	MCF-7	breast:
6	chr20:24751479..24753898-chr20:24757094..24759323,2	MCF-7	breast:
7	chr20:24629904..24632760-chr20:24759535..24761078,2	MCF-7	breast:
8	chr20:24726357..24729522-chr20:24732233..24738144,6	MCF-7	breast:
9	chr20:24746739..24748935-chr20:24753285..24754881,2	MCF-7	breast:
10	chr20:24283824..24284530-chr20:24761681..24762698,3	MCF-7	breast:
11	chr20:24755822..24758667-chr20:24759812..24761777,2	MCF-7	breast:
12	chr20:24786455..24788540-chr20:24788618..24791423,2	MCF-7	breast:
13	chr20:24749036..24750576-chr20:24754349..24756115,2	MCF-7	breast:
14	chr20:24630371..24631127-chr20:24753147..24753931,3	MCF-7	breast:
15	chr20:24780843..24782788-chr20:24791141..24793003,2	MCF-7	breast:
16	chr20:24797658..24800025-chr20:24806940..24809429,2	MCF-7	breast:
17	chr20:24630442..24631150-chr20:24777044..24777861,2	MCF-7	breast:
18	chr20:24746739..24748935-chr20:24753285..24754881,2	MCF-7	breast:
19	chr20:24771567..24773890-chr20:24790007..24791908,2	MCF-7	breast:
20	chr20:24814781..24815580-chr20:24898686..24899395,4	MCF-7	breast:
21	chr20:24786455..24788540-chr20:24788618..24791423,2	MCF-7	breast:
22	chr20:24770878..24773860-chr20:24773955..24776847,2	MCF-7	breast:
23	chr20:24764501..24765530-chr20:24898693..24899347,4	MCF-7	breast:
24	chr20:24363369..24365498-chr20:24749184..24751241,2	MCF-7	breast:
25	chr20:24283757..24284263-chr20:24761732..24762710,2	MCF-7	breast:
26	chr20:24771465..24772208-chr20:24898686..24899202,2	MCF-7	breast:
27	chr20:24797658..24800025-chr20:24806940..24809429,2	MCF-7	breast:
28	chr20:24771567..24773890-chr20:24790007..24791908,2	MCF-7	breast:
29	chr20:24764889..24765421-chr20:24919390..24920112,2	MCF-7	breast:
30	chr20:24633208..24634877-chr20:24753642..24755749,2	MCF-7	breast:
31	chr20:24826869..24829135-chr20:24829517..24831916,2	MCF-7	breast:
32	chr20:24780843..24782788-chr20:24791141..24793003,2	MCF-7	breast:
33	chr20:24185798..24186480-chr20:24761761..24762538,2	MCF-7	breast:
34	chr17:72982681..72985188-chr20:24771420..24774172,2	MCF-7	breast:
35	chr20:24820307..24822750-chr20:24822757..24824794,2	K562	blood:
36	chr20:24826869..24829135-chr20:24829517..24831916,2	MCF-7	breast:
37	chr20:24811551..24814210-chr20:24854321..24856444,2	MCF-7	breast:
38	chr20:24764506..24765162-chr20:24897617..24898498,2	MCF-7	breast:
39	chr20:24763298..24765600-chr20:24898179..24900035,23	MCF-7	breast:
40	chr20:24778826..24780956-chr20:24782590..24785406,2	MCF-7	breast:
41	chr20:24749036..24750576-chr20:24754349..24756115,2	MCF-7	breast:
42	chr20:24189074..24189575-chr20:24761714..24762521,2	MCF-7	breast:
43	chr20:24630391..24631212-chr20:24752974..24753906,2	MCF-7	breast:
44	chr20:24770878..24773860-chr20:24773955..24776847,2	MCF-7	breast:
45	chr20:24140940..24141858-chr20:24761680..24762579,3	MCF-7	breast:
46	chr20:24820307..24822750-chr20:24822757..24824794,2	K562	blood:
47	chr20:24082874..24083567-chr20:24762073..24762659,2	MCF-7	breast:
48	chr20:24778826..24780956-chr20:24782590..24785406,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf3-2	chr20:24860690-24860879	XLOC_013702
2	lnc-C20orf3-2	chr20:24860976-24861148	XLOC_013702

No data

Variant related genes	Relation type
ENSG00000101474	chromatin interactions
ENSG00000109089	chromatin interactions
DCAF8	miRNA target sites

Extended variants
information (count: 5390 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:5390 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573974924	chr20:24733149-24733150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544567088	chr20:24733248-24733249	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572624755	chr20:24733277-24733278	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541727152	chr20:24733314-24733315	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558202193	chr20:24733317-24733318	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144559033	chr20:24733358-24733359	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73903536	chr20:24733360-24733361	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4813534	chr20:24733364-24733365	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545205493	chr20:24733369-24733370	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560335880	chr20:24733388-24733389	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6114862	chr20:24733402-24733403	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148444969	chr20:24733407-24733408	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551874995	chr20:24733434-24733435	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559411555	chr20:24733437-24733438	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528338335	chr20:24733459-24733460	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551636021	chr20:24733484-24733485	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73333424	chr20:24733485-24733486	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs117868368	chr20:24733507-24733508	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182786557	chr20:24733542-24733543	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550372722	chr20:24733556-24733557	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535767206	chr20:24733572-24733573	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569770458	chr20:24733576-24733577	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113383400	chr20:24733604-24733605	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531862410	chr20:24733626-24733627	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113393738	chr20:24733650-24733651	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2424660	chr20:24733667-24733668	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566051789	chr20:24733700-24733701	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534737832	chr20:24733723-24733724	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558425738	chr20:24733732-24733733	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369703781	chr20:24733736-24733737	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147218126	chr20:24733755-24733756	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6049952	chr20:24733772-24733773	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538827986	chr20:24733775-24733776	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557591338	chr20:24733793-24733794	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140754659	chr20:24733813-24733814	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144605487	chr20:24733849-24733850	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185535965	chr20:24733864-24733865	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113060126	chr20:24733873-24733874	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572774020	chr20:24733926-24733927	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372588137	chr20:24733949-24733950	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191017777	chr20:24733950-24733951	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2424661	chr20:24733983-24733984	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs2424662	chr20:24733987-24733988	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533927752	chr20:24734017-24734018	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2253628	chr20:24734026-24734027	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs2424663	chr20:24734068-24734069	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs74569099	chr20:24734100-24734101	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556465016	chr20:24734130-24734131	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113694168	chr20:24734136-24734137	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182861631	chr20:24734154-24734155	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:633 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24727400-24734000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr20:24727400-24743400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:24728200-24733200	Weak transcription	Pancreas	Pancrea
4	chr20:24729000-24734800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr20:24732400-24735000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:24732800-24737600	Enhancers	Fetal Thymus	thymus
7	chr20:24733000-24735200	Enhancers	Dnd41	blood
8	chr20:24733000-24736800	Enhancers	Thymus	Thymus
9	chr20:24733200-24733800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:24733200-24734400	Genic enhancers	Pancreas	Pancrea
11	chr20:24733400-24734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:24734000-24734200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr20:24734200-24735000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:24734400-24735400	Weak transcription	Pancreas	Pancrea
15	chr20:24734800-24737400	Enhancers	Brain Substantia Nigra	brain
16	chr20:24734800-24737600	Enhancers	Brain Cingulate Gyrus	brain
17	chr20:24735000-24735800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr20:24735000-24735800	Enhancers	Adipose Nuclei	Adipose
19	chr20:24735000-24736200	Enhancers	Brain Anterior Caudate	brain
20	chr20:24735000-24736200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr20:24735000-24737400	Enhancers	Primary hematopoietic stem cells	blood
22	chr20:24735000-24737600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr20:24735000-24737600	Enhancers	Brain Angular Gyrus	brain
24	chr20:24735000-24737600	Enhancers	Brain Hippocampus Middle	brain
25	chr20:24735200-24735800	Enhancers	Brain Germinal Matrix	brain
26	chr20:24735200-24736000	Enhancers	HepG2	liver
27	chr20:24735200-24736200	Weak transcription	Dnd41	blood
28	chr20:24735200-24736600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr20:24735200-24737000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr20:24735200-24737600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr20:24735400-24736400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr20:24735400-24737200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr20:24735400-24737400	Enhancers	Pancreas	Pancrea
34	chr20:24735400-24737800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr20:24735600-24736600	Enhancers	Fetal Kidney	kidney
36	chr20:24735600-24737600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr20:24735600-24737800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr20:24735800-24736200	Weak transcription	Adipose Nuclei	Adipose
39	chr20:24735800-24736800	Enhancers	HSMM	muscle
40	chr20:24735800-24737000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr20:24735800-24737000	Enhancers	HSMMtube	muscle
42	chr20:24735800-24737200	Enhancers	Liver	Liver
43	chr20:24736000-24736600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr20:24736000-24736600	Enhancers	A549	lung
45	chr20:24736000-24736600	Flanking Active TSS	HepG2	liver
46	chr20:24736000-24737000	Enhancers	Stomach Mucosa	stomach
47	chr20:24736200-24736400	Enhancers	Dnd41	blood
48	chr20:24736200-24736600	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr20:24736200-24737400	Enhancers	Adipose Nuclei	Adipose
50	chr20:24736400-24737000	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links