Variant report

Variant	nsv912824
Chromosome Location	chr20:24612808-24639916
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:0)
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	chr20:24629731..24632578-chr20:24657556..24659618,3	MCF-7	breast:
2	chr20:24611712..24613428-chr20:24614096..24616788,2	K562	blood:
3	chr20:24633208..24634877-chr20:24753642..24755749,2	MCF-7	breast:
4	chr20:24624340..24627189-chr20:24639641..24641542,2	MCF-7	breast:
5	chr20:24612466..24614630-chr20:24629800..24632618,2	MCF-7	breast:
6	chr20:24623933..24625636-chr20:24628321..24630040,2	MCF-7	breast:
7	chr20:24630261..24631279-chr20:24640264..24641332,21	MCF-7	breast:
8	chr20:24624340..24627189-chr20:24639641..24641542,2	MCF-7	breast:
9	chr20:24448836..24451309-chr20:24629831..24631551,2	MCF-7	breast:
10	chr20:24237902..24238701-chr20:24630250..24631153,4	MCF-7	breast:
11	chr20:24631593..24633850-chr20:24634510..24636557,2	MCF-7	breast:
12	chr20:24612466..24614630-chr20:24629800..24632618,2	MCF-7	breast:
13	chr20:24630391..24631212-chr20:24752974..24753906,2	MCF-7	breast:
14	chr20:24630419..24630929-chr20:24722844..24723588,2	MCF-7	breast:
15	chr20:24610034..24611986-chr20:24615289..24617855,2	MCF-7	breast:
16	chr20:24610820..24613195-chr8:23266116..23269029,2	MCF-7	breast:
17	chr20:24629904..24632760-chr20:24759535..24761078,2	MCF-7	breast:
18	chr20:24630442..24631150-chr20:24777044..24777861,2	MCF-7	breast:
19	chr20:24631399..24634097-chr20:24646074..24647990,2	MCF-7	breast:
20	chr20:24630253..24631426-chr20:24640312..24641216,7	MCF-7	breast:
21	chr20:24630371..24631127-chr20:24753147..24753931,3	MCF-7	breast:
22	chr20:24630307..24631279-chr20:24640279..24641332,14	MCF-7	breast:
23	chr20:24602331..24603843-chr20:24632177..24634998,2	MCF-7	breast:
24	chr20:24625629..24628366-chr20:24631832..24633768,2	MCF-7	breast:
25	chr20:24625629..24628366-chr20:24631832..24633768,2	MCF-7	breast:
26	chr20:24237874..24238722-chr20:24630391..24631249,3	MCF-7	breast:
27	chr20:24616131..24617827-chr20:24647064..24649863,2	MCF-7	breast:
28	chr20:24611712..24613428-chr20:24614096..24616788,2	K562	blood:
29	chr20:24630363..24631077-chr20:30628301..30629231,2	MCF-7	breast:
30	chr20:24623933..24625636-chr20:24628321..24630040,2	MCF-7	breast:
31	chr20:24637159..24638708-chr20:24641343..24643289,2	K562	blood:
32	chr20:24631593..24633850-chr20:24634510..24636557,2	MCF-7	breast:
33	chr20:24629448..24631960-chr20:24674530..24677062,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101463	chromatin interactions

Extended variants
information (count: 1057 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1057 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4813524	chr20:24612808-24612809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371629962	chr20:24612812-24612813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369340307	chr20:24612848-24612849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569520210	chr20:24612853-24612854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531946305	chr20:24612861-24612862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548759869	chr20:24612862-24612863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570091218	chr20:24612872-24612873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187162779	chr20:24612930-24612931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534201831	chr20:24612984-24612985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559660881	chr20:24612985-24612986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570338961	chr20:24612998-24612999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539189873	chr20:24613009-24613010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574689116	chr20:24613027-24613028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35378778	chr20:24613054-24613055	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575683382	chr20:24613067-24613068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541630171	chr20:24613078-24613079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561022703	chr20:24613082-24613083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572326485	chr20:24613173-24613174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149028086	chr20:24613209-24613210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112028431	chr20:24613210-24613211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35560066	chr20:24613216-24613217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560568465	chr20:24613221-24613222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150227872	chr20:24613235-24613236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375216708	chr20:24613245-24613246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562980061	chr20:24613270-24613271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146812777	chr20:24613303-24613304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548789286	chr20:24613322-24613323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191399568	chr20:24613337-24613338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528024800	chr20:24613348-24613349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369399316	chr20:24613360-24613361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547765877	chr20:24613374-24613375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570472610	chr20:24613403-24613404	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs35013952	chr20:24613433-24613434	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs539048197	chr20:24613482-24613483	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs372911977	chr20:24613490-24613491	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs569425996	chr20:24613506-24613507	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs183307364	chr20:24613508-24613509	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs140689538	chr20:24613532-24613533	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs572130027	chr20:24613540-24613541	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs534957982	chr20:24613545-24613546	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs557770923	chr20:24613566-24613567	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs2024608	chr20:24613571-24613572	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs538024479	chr20:24613587-24613588	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs377568998	chr20:24613628-24613629	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs73345394	chr20:24613673-24613674	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562843289	chr20:24613719-24613720	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs547701222	chr20:24613730-24613731	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs377486223	chr20:24613731-24613732	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs576640143	chr20:24613751-24613752	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs566023848	chr20:24613859-24613860	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24608400-24613200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:24608600-24615000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr20:24608800-24616800	Enhancers	Brain Hippocampus Middle	brain
4	chr20:24609200-24615200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr20:24610400-24613400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:24610400-24613800	Weak transcription	Brain Anterior Caudate	brain
7	chr20:24610400-24615600	Weak transcription	Right Atrium	heart
8	chr20:24610600-24613200	Weak transcription	Fetal Muscle Leg	muscle
9	chr20:24610600-24613800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr20:24610600-24613800	Weak transcription	Gastric	stomach
11	chr20:24610600-24613800	Weak transcription	Left Ventricle	heart
12	chr20:24610600-24613800	Weak transcription	Lung	lung
13	chr20:24610600-24615000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr20:24610600-24615600	Weak transcription	Right Ventricle	heart
15	chr20:24610800-24615600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr20:24610800-24615600	Weak transcription	Thymus	Thymus
17	chr20:24611000-24613800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr20:24611000-24615200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr20:24611000-24615400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr20:24611400-24614400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr20:24611400-24614400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr20:24611400-24615400	Weak transcription	Fetal Thymus	thymus
23	chr20:24611600-24613400	Weak transcription	Brain Substantia Nigra	brain
24	chr20:24612200-24613200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr20:24612600-24614600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr20:24612800-24613600	Weak transcription	Aorta	Aorta
27	chr20:24612800-24614800	Weak transcription	Brain Angular Gyrus	brain
28	chr20:24613000-24613200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr20:24613000-24615200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr20:24613200-24614000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr20:24613200-24614000	Enhancers	Brain Cingulate Gyrus	brain
32	chr20:24613200-24614200	Enhancers	Fetal Muscle Leg	muscle
33	chr20:24613400-24613600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr20:24613400-24614000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr20:24613400-24614000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr20:24613400-24614200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr20:24613400-24614200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr20:24613400-24614400	Enhancers	HSMM	muscle
39	chr20:24613400-24615000	Enhancers	NHEK	skin
40	chr20:24613400-24616200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr20:24613400-24616200	Enhancers	HMEC	breast
42	chr20:24613400-24616200	Enhancers	NH-A	brain
43	chr20:24613400-24616600	Enhancers	Brain Substantia Nigra	brain
44	chr20:24613400-24618000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr20:24613600-24613800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr20:24613600-24614000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr20:24613600-24614000	Enhancers	Fetal Muscle Trunk	muscle
48	chr20:24613600-24614200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr20:24613600-24614200	ZNF genes & repeats	Aorta	Aorta
50	chr20:24613600-24615800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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