Variant report

Variant	nsv1065067
Chromosome Location	chr20:22199617-22240462
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	ARID3A	chr20:22225866-22226184	HepG2	liver:	n/a	n/a
2	BATF	chr20:22207609-22207861	GM12878	blood:	n/a	chr20:22207770-22207781
3	BATF	chr20:22207618-22207852	GM12878	blood:	n/a	chr20:22207770-22207781
4	BHLHE40	chr20:22225852-22226276	HepG2	liver:	n/a	n/a
5	BHLHE40	chr20:22225819-22226149	HepG2	liver:	n/a	n/a
6	BHLHE40	chr20:22207622-22207785	GM12878	blood:	n/a	n/a
7	BHLHE40	chr20:22201829-22201834	GM12878	blood:	n/a	n/a
8	CEBPB	chr20:22238567-22238924	HepG2	liver:	n/a	chr20:22238738-22238751 chr20:22238738-22238749 chr20:22238740-22238749 chr20:22238739-22238750
9	CEBPB	chr20:22238568-22238926	IMR90	lung:	n/a	chr20:22238738-22238751 chr20:22238738-22238749 chr20:22238740-22238749 chr20:22238739-22238750
10	CEBPB	chr20:22238548-22238902	H1-hESC	embryonic stem cell:	n/a	chr20:22238738-22238751 chr20:22238738-22238749 chr20:22238740-22238749 chr20:22238739-22238750
11	CEBPB	chr20:22238575-22238854	K562	blood:	n/a	chr20:22238738-22238751 chr20:22238738-22238749 chr20:22238740-22238749 chr20:22238739-22238750
12	CEBPB	chr20:22215496-22215819	HepG2	liver:	n/a	chr20:22215655-22215668 chr20:22215657-22215668 chr20:22215655-22215666
13	CEBPB	chr20:22221322-22221415	HepG2	liver:	n/a	n/a
14	CEBPB	chr20:22238571-22238899	A549	lung:	n/a	chr20:22238738-22238751 chr20:22238738-22238749 chr20:22238740-22238749 chr20:22238739-22238750
15	CEBPB	chr20:22215545-22215804	IMR90	lung:	n/a	chr20:22215655-22215668 chr20:22215657-22215668 chr20:22215655-22215666
16	CEBPB	chr20:22215508-22215797	A549	lung:	n/a	chr20:22215655-22215668 chr20:22215657-22215668 chr20:22215655-22215666
17	CEBPB	chr20:22239607-22239926	HepG2	liver:	n/a	chr20:22239634-22239643 chr20:22239794-22239806 chr20:22239762-22239773
18	CEBPB	chr20:22239647-22239913	A549	lung:	n/a	chr20:22239794-22239806 chr20:22239762-22239773
19	CEBPB	chr20:22238580-22238825	MCF-7	breast:	n/a	chr20:22238738-22238751 chr20:22238738-22238749 chr20:22238740-22238749 chr20:22238739-22238750
20	CHD2	chr20:22225983-22226177	HepG2	liver:	n/a	n/a
21	CHD2	chr20:22213156-22213391	GM12878	blood:	n/a	n/a
22	CTCF	chr20:22228840-22228990	GM12870	blood:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
23	CTCF	chr20:22228860-22229010	RPTEC	kidney:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
24	CTCF	chr20:22228820-22228970	WERI-Rb-1	eye:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
25	CTCF	chr20:22228838-22228926	Spleen_OC	spleen:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
26	CTCF	chr20:22228820-22228970	HMF	breast:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
27	CTCF	chr20:22228798-22228969	Kidney_OC	kidney:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
28	CTCF	chr20:22228860-22229010	AG04449	skin:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
29	CTCF	chr20:22228760-22228910	NHDF-neo	bronchial:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
30	CTCF	chr20:22228820-22228970	GM12868	blood:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
31	CTCF	chr20:22228780-22228930	GM12801	blood:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
32	CTCF	chr20:22228777-22229020	Gliobla	brain:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
33	CTCF	chr20:22228716-22229073	H1-hESC	embryonic stem cell:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
34	CTCF	chr20:22228820-22228970	Hela-S3	cervix:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
35	CTCF	chr20:22224040-22224190	HepG2	liver:	n/a	n/a
36	CTCF	chr20:22228589-22229141	MCF-7	breast:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
37	CTCF	chr20:22228800-22228950	MCF-7	breast:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
38	CTCF	chr20:22228740-22228890	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr20:22227280-22227430	Caco-2	colon:	n/a	n/a
40	CTCF	chr20:22228820-22228970	BE2_C	brain:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
41	CTCF	chr20:22228860-22229010	HUVEC	blood vessel:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
42	CTCF	chr20:22228756-22229026	K562	blood:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
43	CTCF	chr20:22229080-22229230	GM12866	blood:	n/a	n/a
44	CTCF	chr20:22228828-22228942	GM19239	blood:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
45	CTCF	chr20:22228800-22228950	AG04449	skin:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
46	CTCF	chr20:22228755-22229061	K562	blood:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
47	CTCF	chr20:22228820-22228970	HMEC	breast:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
48	CTCF	chr20:22228740-22229030	HFF	foreskin:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
49	CTCF	chr20:22228820-22228970	HPAF	blood vessel:	n/a	chr20:22228875-22228896 chr20:22228880-22228898
50	CTCF	chr20:22228800-22228950	HPF	lung:	n/a	chr20:22228875-22228896 chr20:22228880-22228898

No.	Distal block	Cell Line	Cell type
1	chr20:22197366..22199086-chr20:22218639..22220726,2	K562	blood:
2	chr20:22207148..22209709-chr20:22210226..22212970,2	MCF-7	breast:
3	chr20:22207148..22209709-chr20:22210226..22212970,2	MCF-7	breast:
4	chr20:21699983..21700503-chr20:22228810..22229340,2	MCF-7	breast:
5	chr20:22209275..22212229-chr20:22213235..22214812,2	MCF-7	breast:
6	chr20:22160990..22161530-chr20:22228358..22228973,2	MCF-7	breast:
7	chr20:22202765..22204318-chr20:22217926..22219927,2	K562	blood:
8	chr20:22197179..22199086-chr20:22218639..22222093,3	K562	blood:
9	chr20:22218098..22219872-chr20:22223528..22225195,2	K562	blood:
10	chr20:22209275..22212229-chr20:22213235..22214812,2	MCF-7	breast:
11	chr20:22218098..22219872-chr20:22223528..22225195,2	K562	blood:
12	chr20:21282621..21284288-chr20:22215140..22217151,2	MCF-7	breast:
13	chr20:22086890..22087527-chr20:22228757..22229332,2	MCF-7	breast:
14	chr20:22202765..22204318-chr20:22217926..22219927,2	K562	blood:
15	chr20:21789416..21790152-chr20:22228343..22228915,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXA2-14	chr20:22210992-22211124	ucscGeneNc_uc002wsk_1
2	lnc-PAX1-4	chr20:22201192-22201234	XLOC_013483
3	lnc-FOXA2-14	chr20:22210992-22211053	NONHSAT078966
4	lnc-FOXA2-14	chr20:22205059-22209178	ucscGeneNc_uc002wsk_1
5	lnc-PAX1-4	chr20:22203617-22203921	XLOC_013483
6	lnc-FOXA2-14	chr20:22211182-22211310	NONHSAT078966
7	lnc-FOXA2-14	chr20:22203046-22203184	ucscGeneNc_uc002wsk_1
8	lnc-PAX1-4	chr20:22202209-22202299	XLOC_013483
9	lnc-FOXA2-14	chr20:22208866-22209178	NONHSAT078966

Variant related genes	Relation type
ENSG00000234862	TF binding region
ENSG00000088930	chromatin interactions

Extended variants
information (count: 1251 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:1251 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563590770	chr20:22199630-22199631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150098891	chr20:22199632-22199633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542699878	chr20:22199636-22199637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559770935	chr20:22199645-22199646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112554169	chr20:22199663-22199664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552078889	chr20:22199691-22199692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571887456	chr20:22199738-22199739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544732830	chr20:22199757-22199758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531089362	chr20:22199782-22199783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2050228	chr20:22199833-22199834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569697983	chr20:22199858-22199859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535526756	chr20:22199907-22199908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6047965	chr20:22199966-22199967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555104778	chr20:22199979-22199980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372064611	chr20:22199982-22199983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565317043	chr20:22200007-22200008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534623731	chr20:22200040-22200041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191863982	chr20:22200069-22200070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183959169	chr20:22200076-22200077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6047966	chr20:22200081-22200082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376219824	chr20:22200090-22200091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577425158	chr20:22200132-22200133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116175674	chr20:22200185-22200186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138422245	chr20:22200213-22200214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549219757	chr20:22200275-22200276	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs574088542	chr20:22200278-22200279	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs535126159	chr20:22200344-22200345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543089816	chr20:22200345-22200346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188904459	chr20:22200381-22200382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141233486	chr20:22200385-22200386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs804614	chr20:22200414-22200415	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545727840	chr20:22200498-22200499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367924952	chr20:22200507-22200508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11483262	chr20:22200512-22200513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551010121	chr20:22200513-22200514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79445433	chr20:22200528-22200529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76655625	chr20:22200531-22200532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7509229	chr20:22200532-22200533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372179533	chr20:22200596-22200597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565533943	chr20:22200646-22200647	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs8183873	chr20:22200701-22200702	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574954690	chr20:22200765-22200766	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs8121225	chr20:22200835-22200836	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs193153509	chr20:22200845-22200846	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs531236035	chr20:22200906-22200907	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs78647034	chr20:22201027-22201028	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs373630427	chr20:22201029-22201030	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs182901923	chr20:22201061-22201062	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs112151429	chr20:22201062-22201063	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs539179629	chr20:22201068-22201069	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22198200-22202800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr20:22198400-22202400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr20:22198400-22202400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr20:22198800-22199800	Weak transcription	Fetal Heart	heart
5	chr20:22198800-22200800	Weak transcription	GM12878-XiMat	blood
6	chr20:22198800-22203200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr20:22199000-22200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:22199000-22200600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr20:22199000-22202600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr20:22199600-22200600	Enhancers	Fetal Muscle Leg	muscle
11	chr20:22199600-22200800	Enhancers	Fetal Stomach	stomach
12	chr20:22200000-22200200	Enhancers	Fetal Heart	heart
13	chr20:22200200-22200600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:22200600-22201200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr20:22200600-22201400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:22200800-22201200	Active TSS	GM12878-XiMat	blood
17	chr20:22200800-22203400	Weak transcription	Fetal Stomach	stomach
18	chr20:22201200-22201600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr20:22201800-22203000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr20:22202400-22203600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr20:22202400-22203800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr20:22202400-22204200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr20:22202600-22203400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr20:22202600-22203400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr20:22202600-22203800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr20:22202600-22204000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr20:22202800-22203800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr20:22203200-22203600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr20:22203400-22203600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr20:22203400-22203600	Enhancers	Fetal Stomach	stomach
31	chr20:22203400-22203800	Enhancers	Dnd41	blood
32	chr20:22203400-22204400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:22203400-22206000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr20:22203600-22204000	Weak transcription	Fetal Stomach	stomach
35	chr20:22204000-22204600	Enhancers	Fetal Stomach	stomach
36	chr20:22204400-22204800	Enhancers	Duodenum Mucosa	Duodenum
37	chr20:22204400-22206800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr20:22206800-22207400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr20:22207400-22207600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr20:22207400-22207600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr20:22207400-22207800	Enhancers	Fetal Muscle Leg	muscle
42	chr20:22207400-22207800	Enhancers	GM12878-XiMat	blood
43	chr20:22207400-22208000	Enhancers	HSMM	muscle
44	chr20:22207400-22208600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr20:22207600-22207800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr20:22207800-22208000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr20:22207800-22211800	Weak transcription	GM12878-XiMat	blood
48	chr20:22208000-22208400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr20:22208400-22208600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr20:22208400-22208600	Enhancers	Muscle Satellite Cultured Cells	--

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