Variant report

Variant	nsv585726
Chromosome Location	chr20:23677829-23726957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr20:23710550-23710870	IMR90	lung:	n/a	chr20:23710701-23710712
2	CEBPB	chr20:23710656-23710785	K562	blood:	n/a	chr20:23710701-23710712
3	CEBPB	chr20:23687946-23688194	A549	lung:	n/a	chr20:23688059-23688070
4	CEBPB	chr20:23715136-23715338	IMR90	lung:	n/a	chr20:23715271-23715282
5	CEBPB	chr20:23710539-23710875	A549	lung:	n/a	chr20:23710701-23710712
6	CEBPB	chr20:23715126-23715326	A549	lung:	n/a	chr20:23715271-23715282
7	CEBPB	chr20:23710540-23710875	HepG2	liver:	n/a	chr20:23710701-23710712
8	CEBPB	chr20:23715133-23715386	HepG2	liver:	n/a	chr20:23715271-23715282
9	CEBPB	chr20:23684405-23684588	HepG2	liver:	n/a	chr20:23684504-23684515 chr20:23684504-23684517 chr20:23684506-23684515 chr20:23684506-23684515 chr20:23684506-23684515 chr20:23684506-23684517 chr20:23684506-23684515
10	CEBPB	chr20:23684500-23684595	A549	lung:	n/a	chr20:23684504-23684515 chr20:23684504-23684517 chr20:23684506-23684515 chr20:23684506-23684515 chr20:23684506-23684515 chr20:23684506-23684517 chr20:23684506-23684515
11	CEBPB	chr20:23687994-23688164	IMR90	lung:	n/a	chr20:23688059-23688070
12	CEBPB	chr20:23687909-23688202	HepG2	liver:	n/a	chr20:23688059-23688070
13	CEBPB	chr20:23710603-23710866	H1-hESC	embryonic stem cell:	n/a	chr20:23710701-23710712
14	CTCF	chr20:23704940-23705090	HAc	cerebellar:	n/a	n/a
15	CTCF	chr20:23704360-23704510	HEEpiC	esophagus:	n/a	chr20:23704496-23704505
16	CTCF	chr20:23704360-23704510	WI-38	lung:	n/a	chr20:23704496-23704505
17	CTCF	chr20:23704360-23704510	HUVEC	blood vessel:	n/a	chr20:23704496-23704505
18	CTCF	chr20:23704740-23704890	Hela-S3	cervix:	n/a	chr20:23704741-23704757 chr20:23704742-23704763 chr20:23704787-23704796 chr20:23704740-23704758
19	CTCF	chr20:23704340-23704490	SAEC	small airway:	n/a	n/a
20	CTCF	chr20:23704340-23704490	HepG2	liver:	n/a	n/a
21	CTCF	chr20:23704355-23704915	MCF-7	breast:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704741-23704757 chr20:23704742-23704763 chr20:23704496-23704505 chr20:23704787-23704796 chr20:23704740-23704758
22	CTCF	chr20:23704340-23704490	HL-60	blood:	n/a	n/a
23	CTCF	chr20:23713982-23714020	LNCaP	prostate:	n/a	n/a
24	CTCF	chr20:23704380-23704530	MCF-7	breast:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704496-23704505
25	CTCF	chr20:23704655-23704875	H1-hESC	embryonic stem cell:	n/a	chr20:23704741-23704757 chr20:23704742-23704763 chr20:23704787-23704796 chr20:23704740-23704758
26	CTCF	chr20:23704330-23704621	H1-hESC	embryonic stem cell:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704496-23704505
27	CTCF	chr20:23715753-23715755	MCF-7	breast:	n/a	n/a
28	CTCF	chr20:23704340-23704490	HCFaa	heart:	n/a	n/a
29	CTCF	chr20:23704380-23704530	GM12866	blood:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704496-23704505
30	CTCF	chr20:23704332-23704556	SK-N-SH_RA	brain:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704496-23704505
31	CTCF	chr20:23704690-23704863	GM19239	blood:	n/a	chr20:23704741-23704757 chr20:23704742-23704763 chr20:23704787-23704796 chr20:23704740-23704758
32	CTCF	chr20:23704341-23704994	K562	blood:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704741-23704757 chr20:23704742-23704763 chr20:23704496-23704505 chr20:23704787-23704796 chr20:23704740-23704758
33	CTCF	chr20:23704377-23704634	Hela-S3	cervix:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704496-23704505
34	CTCF	chr20:23704880-23705030	HCT-116	colon:	n/a	n/a
35	CTCF	chr20:23704357-23704831	GM12892	blood:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704741-23704757 chr20:23704742-23704763 chr20:23704496-23704505 chr20:23704787-23704796 chr20:23704740-23704758
36	CTCF	chr20:23704382-23704571	H1-hESC	embryonic stem cell:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704496-23704505
37	CTCF	chr20:23704420-23704570	WERI-Rb-1	eye:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704496-23704505
38	CTCF	chr20:23704420-23704570	GM12875	blood:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704496-23704505
39	CTCF	chr20:23704380-23704530	GM12865	blood:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704496-23704505
40	CTCF	chr20:23704260-23704920	A549	lung:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704741-23704757 chr20:23704742-23704763 chr20:23704496-23704505 chr20:23704787-23704796 chr20:23704740-23704758
41	CTCF	chr20:23688540-23688690	HepG2	liver:	n/a	n/a
42	CTCF	chr20:23719400-23719410	LNCaP	prostate:	n/a	n/a
43	CTCF	chr20:23704440-23704590	Caco-2	colon:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704496-23704505
44	CTCF	chr20:23704355-23704664	GM19240	blood:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704496-23704505
45	CTCF	chr20:23704339-23704616	HepG2	liver:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704496-23704505
46	CTCF	chr20:23704380-23704530	HMEC	breast:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704496-23704505
47	CTCF	chr20:23704345-23704904	HepG2	liver:	n/a	chr20:23704495-23704516 chr20:23704493-23704511 chr20:23704741-23704757 chr20:23704742-23704763 chr20:23704496-23704505 chr20:23704787-23704796 chr20:23704740-23704758
48	CTCF	chr20:23704880-23705030	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr20:23704340-23704490	HVMF	connective:	n/a	n/a
50	CTCF	chr20:23704960-23705110	HFF-Myc	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23648954..23649672-chr20:23703387..23704074,2	MCF-7	breast:
2	chr20:23702805..23703439-chr20:23754485..23755364,2	MCF-7	breast:
3	chr20:23704352..23705295-chr20:23754423..23755304,4	MCF-7	breast:
4	chr20:23704490..23705249-chr20:23762654..23763235,2	MCF-7	breast:
5	chr20:23648334..23649447-chr20:23704109..23705001,3	MCF-7	breast:
6	chr20:23704491..23705478-chr20:23779622..23780975,4	MCF-7	breast:
7	chr20:23648920..23650143-chr20:23704363..23705222,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CST8-5	chr20:23726778-23726924	NONHSAT079083

Variant related genes	Relation type
CST2P1	TF binding region

Extended variants
information (count: 1180 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1180 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6049003	chr20:23677829-23677830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536997446	chr20:23677846-23677847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556991582	chr20:23677860-23677861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139245693	chr20:23677930-23677931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543326648	chr20:23677957-23677958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs8118801	chr20:23677979-23677980	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34438831	chr20:23678037-23678038	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545501786	chr20:23678051-23678052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565196644	chr20:23678055-23678056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530819479	chr20:23678056-23678057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563721961	chr20:23678063-23678064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550610114	chr20:23678073-23678074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560939334	chr20:23678101-23678102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192510083	chr20:23678102-23678103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548985973	chr20:23678120-23678121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371065771	chr20:23678122-23678123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183839423	chr20:23678132-23678133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149994201	chr20:23678136-23678137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551458333	chr20:23678140-23678141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374381099	chr20:23678182-23678183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571413756	chr20:23678252-23678253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73902134	chr20:23678305-23678306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188797848	chr20:23678357-23678358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6076116	chr20:23678358-23678359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146576011	chr20:23678364-23678365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371848072	chr20:23678369-23678370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553359224	chr20:23678400-23678401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192860199	chr20:23678401-23678402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111593977	chr20:23678412-23678413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575374450	chr20:23678421-23678422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397864452	chr20:23678452-23678453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1538908	chr20:23678464-23678465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1538909	chr20:23678467-23678468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4602282	chr20:23678500-23678501	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542917809	chr20:23678521-23678522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1538910	chr20:23678551-23678552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561586980	chr20:23678568-23678569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551326951	chr20:23678587-23678588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571449350	chr20:23678608-23678609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184261492	chr20:23678645-23678646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139722613	chr20:23678654-23678655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34009670	chr20:23678659-23678660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550664783	chr20:23678675-23678676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550704588	chr20:23678687-23678688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143708659	chr20:23678692-23678693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146837674	chr20:23678706-23678707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567099695	chr20:23678745-23678746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539312361	chr20:23678765-23678766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558762431	chr20:23678807-23678808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187046471	chr20:23678832-23678833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Prostate cancer	18632612	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
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23675800-23681600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:23676400-23679200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:23677800-23678600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr20:23678000-23678200	Enhancers	GM12878-XiMat	blood
5	chr20:23679200-23680600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:23679800-23680000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr20:23680000-23681800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr20:23681200-23681400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr20:23681400-23682800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr20:23681600-23682200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:23681800-23683000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr20:23682200-23684800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:23682400-23683000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr20:23682800-23684000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr20:23684800-23685000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr20:23694000-23694400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr20:23694200-23694600	Enhancers	HMEC	breast
18	chr20:23695000-23695400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr20:23697800-23698600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr20:23698600-23698800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:23698800-23699400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr20:23700200-23701000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr20:23702200-23702400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr20:23703600-23704000	Enhancers	Left Ventricle	heart
25	chr20:23713600-23714200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:23714200-23719000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr20:23715200-23716000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr20:23715400-23716400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr20:23719000-23719400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr20:23724800-23726600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr20:23725200-23726800	Enhancers	HUVEC	blood vessel
32	chr20:23725400-23725800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:23725400-23725800	Enhancers	Osteobl	bone
34	chr20:23725400-23726000	Enhancers	NHLF	lung
35	chr20:23725400-23726600	Enhancers	NHDF-Ad	bronchial
36	chr20:23725400-23727000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr20:23725600-23725800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr20:23725800-23726200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr20:23725800-23727000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr20:23726800-23727000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr20:23726800-23731800	Weak transcription	HUVEC	blood vessel

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