Variant report

Variant	nsv544217
Chromosome Location	chr20:24711635-24815107
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:0)
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	chr20:24797658..24800025-chr20:24806940..24809429,2	MCF-7	breast:
2	chr20:24629904..24632760-chr20:24759535..24761078,2	MCF-7	breast:
3	chr20:24786455..24788540-chr20:24788618..24791423,2	MCF-7	breast:
4	chr20:24630391..24631212-chr20:24752974..24753906,2	MCF-7	breast:
5	chr20:24189074..24189575-chr20:24761714..24762521,2	MCF-7	breast:
6	chr20:24780843..24782788-chr20:24791141..24793003,2	MCF-7	breast:
7	chr20:24751479..24753898-chr20:24757094..24759323,2	MCF-7	breast:
8	chr20:24771465..24772208-chr20:24898686..24899202,2	MCF-7	breast:
9	chr20:24763298..24765600-chr20:24898179..24900035,23	MCF-7	breast:
10	chr20:24746739..24748935-chr20:24753285..24754881,2	MCF-7	breast:
11	chr20:24771567..24773890-chr20:24790007..24791908,2	MCF-7	breast:
12	chr20:24630419..24630929-chr20:24722844..24723588,2	MCF-7	breast:
13	chr20:24749036..24750576-chr20:24754349..24756115,2	MCF-7	breast:
14	chr20:24746739..24748935-chr20:24753285..24754881,2	MCF-7	breast:
15	chr20:24778826..24780956-chr20:24782590..24785406,2	MCF-7	breast:
16	chr20:24770878..24773860-chr20:24773955..24776847,2	MCF-7	breast:
17	chr20:24716951..24718615-chr20:24720507..24722408,2	MCF-7	breast:
18	chr20:24082874..24083567-chr20:24762073..24762659,2	MCF-7	breast:
19	chr20:24283757..24284263-chr20:24761732..24762710,2	MCF-7	breast:
20	chr20:24764501..24765530-chr20:24898693..24899347,4	MCF-7	breast:
21	chr20:24363369..24365498-chr20:24749184..24751241,2	MCF-7	breast:
22	chr20:24780843..24782788-chr20:24791141..24793003,2	MCF-7	breast:
23	chr20:24633208..24634877-chr20:24753642..24755749,2	MCF-7	breast:
24	chr20:24651840..24653392-chr20:24727209..24728729,2	MCF-7	breast:
25	chr20:24764506..24765162-chr20:24897617..24898498,2	MCF-7	breast:
26	chr20:24755822..24758667-chr20:24759812..24761777,2	MCF-7	breast:
27	chr20:24283824..24284530-chr20:24761681..24762698,3	MCF-7	breast:
28	chr20:24770878..24773860-chr20:24773955..24776847,2	MCF-7	breast:
29	chr20:24764889..24765421-chr20:24919390..24920112,2	MCF-7	breast:
30	chr20:24786455..24788540-chr20:24788618..24791423,2	MCF-7	breast:
31	chr20:24726357..24729522-chr20:24732233..24738144,6	MCF-7	breast:
32	chr17:72982681..72985188-chr20:24771420..24774172,2	MCF-7	breast:
33	chr20:24630371..24631127-chr20:24753147..24753931,3	MCF-7	breast:
34	chr20:24760897..24762927-chr20:24971923..24974297,2	MCF-7	breast:
35	chr20:24751479..24753898-chr20:24757094..24759323,2	MCF-7	breast:
36	chr20:24814781..24815580-chr20:24898686..24899395,4	MCF-7	breast:
37	chr20:24716951..24718615-chr20:24720507..24722408,2	MCF-7	breast:
38	chr20:24726357..24729522-chr20:24732233..24738144,6	MCF-7	breast:
39	chr20:24749036..24750576-chr20:24754349..24756115,2	MCF-7	breast:
40	chr20:24630442..24631150-chr20:24777044..24777861,2	MCF-7	breast:
41	chr20:24763560..24765112-chr20:24971515..24973811,2	MCF-7	breast:
42	chr20:24778826..24780956-chr20:24782590..24785406,2	MCF-7	breast:
43	chr20:24755822..24758667-chr20:24759812..24761777,2	MCF-7	breast:
44	chr20:24771567..24773890-chr20:24790007..24791908,2	MCF-7	breast:
45	chr20:24811551..24814210-chr20:24854321..24856444,2	MCF-7	breast:
46	chr20:24797658..24800025-chr20:24806940..24809429,2	MCF-7	breast:
47	chr20:24185798..24186480-chr20:24761761..24762538,2	MCF-7	breast:
48	chr20:24140940..24141858-chr20:24761680..24762579,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101474	chromatin interactions
ENSG00000109089	chromatin interactions

Extended variants
information (count: 4856 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:4856 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565950926	chr20:24711648-24711649	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544744252	chr20:24711664-24711665	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534394871	chr20:24711769-24711770	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183606941	chr20:24711812-24711813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577527340	chr20:24711872-24711873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs118046533	chr20:24711876-24711877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185861655	chr20:24711886-24711887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573967095	chr20:24711887-24711888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542957987	chr20:24712007-24712008	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139599281	chr20:24712016-24712017	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4815302	chr20:24712082-24712083	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs530512749	chr20:24712100-24712101	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541124008	chr20:24712110-24712111	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3830852	chr20:24712207-24712208	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397840564	chr20:24712209-24712210	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370543778	chr20:24712234-24712235	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190125993	chr20:24712235-24712236	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139556126	chr20:24712250-24712251	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117057382	chr20:24712251-24712252	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529513314	chr20:24712319-24712320	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374899759	chr20:24712345-24712346	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144264116	chr20:24712350-24712351	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565890393	chr20:24712374-24712375	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535231175	chr20:24712380-24712381	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146611297	chr20:24712419-24712420	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536774473	chr20:24712422-24712423	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76462317	chr20:24712472-24712473	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60577833	chr20:24712486-24712487	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs115501143	chr20:24712536-24712537	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553312085	chr20:24712576-24712577	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148760300	chr20:24712583-24712584	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546293020	chr20:24712597-24712598	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6114852	chr20:24712609-24712610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142460584	chr20:24712644-24712645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182399676	chr20:24712651-24712652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73108636	chr20:24712690-24712691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578039766	chr20:24712719-24712720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543570161	chr20:24712729-24712730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375503264	chr20:24712778-24712779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151325846	chr20:24712800-24712801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6049922	chr20:24712837-24712838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549226373	chr20:24712847-24712848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35499346	chr20:24712850-24712851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559610766	chr20:24712866-24712867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528831212	chr20:24712927-24712928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186716183	chr20:24712938-24712939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192420489	chr20:24712959-24712960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182759021	chr20:24712995-24712996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140745837	chr20:24712997-24712998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567228990	chr20:24713031-24713032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24710000-24718000	Weak transcription	Spleen	Spleen
2	chr20:24711600-24711800	Genic enhancers	Thymus	Thymus
3	chr20:24711800-24712000	Weak transcription	Thymus	Thymus
4	chr20:24712000-24712400	Enhancers	Fetal Thymus	thymus
5	chr20:24712000-24712400	Strong transcription	Thymus	Thymus
6	chr20:24712200-24712400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:24712200-24712400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:24712400-24712600	Genic enhancers	Thymus	Thymus
9	chr20:24712400-24714800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:24712400-24714800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:24712400-24716800	Weak transcription	Fetal Thymus	thymus
12	chr20:24712600-24713200	Strong transcription	Thymus	Thymus
13	chr20:24713200-24713800	Genic enhancers	Thymus	Thymus
14	chr20:24713200-24715800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr20:24713800-24714000	Enhancers	Thymus	Thymus
16	chr20:24714000-24718400	Weak transcription	Thymus	Thymus
17	chr20:24714800-24715000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr20:24714800-24715200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr20:24714800-24715200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr20:24715000-24717400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:24715000-24718400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr20:24715200-24715600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr20:24715200-24719000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr20:24715400-24717000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr20:24715400-24718000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr20:24715600-24716400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr20:24715600-24716400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr20:24715600-24716800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr20:24715800-24716200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr20:24715800-24716200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr20:24715800-24716200	Enhancers	Placenta	Placenta
32	chr20:24715800-24716200	Enhancers	Right Atrium	heart
33	chr20:24715800-24716400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr20:24715800-24716800	Enhancers	Fetal Brain Male	brain
35	chr20:24715800-24717000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr20:24716000-24716400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr20:24716000-24716400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr20:24716200-24716400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr20:24716200-24717600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr20:24716200-24717600	Enhancers	Fetal Stomach	stomach
41	chr20:24716200-24717800	Weak transcription	Placenta	Placenta
42	chr20:24716200-24723800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr20:24716400-24717000	Enhancers	Colon Smooth Muscle	Colon
44	chr20:24716400-24717000	Enhancers	Rectal Smooth Muscle	rectum
45	chr20:24716400-24717600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr20:24716400-24717600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr20:24716400-24717600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr20:24716600-24716800	Bivalent Enhancer	Fetal Lung	lung
49	chr20:24716600-24717000	Enhancers	Stomach Smooth Muscle	stomach
50	chr20:24716600-24717800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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