Variant report

Variant	esv274888
Chromosome Location	chr2:173550156-173559068
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	BHLHE40	chr2:173557492-173558131	A549	lung:	n/a	n/a
2	BHLHE40	chr2:173557775-173558112	K562	blood:	n/a	n/a
3	BHLHE40	chr2:173557751-173558154	HepG2	liver:	n/a	n/a
4	BRCA1	chr2:173557849-173558168	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr2:173557564-173558354	HCT-116	colon:	n/a	n/a
6	CEBPB	chr2:173557779-173558508	IMR90	lung:	n/a	n/a
7	CEBPB	chr2:173557764-173558278	MCF-7	breast:	n/a	n/a
8	CEBPB	chr2:173557725-173558651	A549	lung:	n/a	n/a
9	CEBPB	chr2:173558036-173558142	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:173557760-173558581	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr2:173557830-173558304	A549	lung:	n/a	n/a
12	CEBPB	chr2:173558836-173559108	IMR90	lung:	n/a	n/a
13	CEBPB	chr2:173558942-173559109	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:173557841-173558274	A549	lung:	n/a	n/a
15	CEBPB	chr2:173553083-173553090	A549	lung:	n/a	n/a
16	CHD2	chr2:173557803-173558157	Hela-S3	cervix:	n/a	n/a
17	CREB1	chr2:173557797-173558106	A549	lung:	n/a	n/a
18	CTCF	chr2:173557840-173557889	GM13977	blood:	n/a	n/a
19	CTCF	chr2:173557980-173558130	AG10803	skin:	n/a	n/a
20	CTCF	chr2:173557700-173557850	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr2:173557920-173558070	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr2:173557940-173558090	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr2:173557960-173558110	AG10803	skin:	n/a	n/a
24	CTCF	chr2:173557780-173557930	A549	lung:	n/a	n/a
25	CTCF	chr2:173557920-173558070	AG04449	skin:	n/a	n/a
26	CTCF	chr2:173553915-173553983	GM20000	blood:	n/a	n/a
27	CTCF	chr2:173553080-173553230	HepG2	liver:	n/a	n/a
28	CTCF	chr2:173557940-173558090	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr2:173557820-173557970	HCPEpiC	choroid plexus:	n/a	n/a
30	E2F4	chr2:173550385-173550478	MCF10A-Er-Src	breast:	n/a	n/a
31	EP300	chr2:173557571-173558277	SK-N-SH	brain:	n/a	chr2:173558020-173558036
32	EP300	chr2:173557587-173558399	SK-N-SH	brain:	n/a	chr2:173558020-173558036
33	EP300	chr2:173557651-173558326	A549	lung:	n/a	chr2:173558020-173558036
34	EP300	chr2:173557862-173558237	Hela-S3	cervix:	n/a	chr2:173558020-173558036
35	EP300	chr2:173557801-173558282	ECC-1	luminal epithelium:	n/a	chr2:173558020-173558036
36	EP300	chr2:173557709-173558173	SK-N-SH_RA	brain:	n/a	chr2:173558020-173558036
37	EP300	chr2:173557616-173558339	A549	lung:	n/a	chr2:173558020-173558036
38	EP300	chr2:173557700-173558196	SK-N-SH_RA	brain:	n/a	chr2:173558020-173558036
39	FOS	chr2:173557740-173558248	MCF10A-Er-Src	breast:	n/a	chr2:173557937-173557945 chr2:173558009-173558020 chr2:173558010-173558019 chr2:173557935-173557946
40	FOS	chr2:173557757-173558248	MCF10A-Er-Src	breast:	n/a	chr2:173557937-173557945 chr2:173558009-173558020 chr2:173558010-173558019 chr2:173557935-173557946
41	FOS	chr2:173557732-173558234	MCF10A-Er-Src	breast:	n/a	chr2:173557937-173557945 chr2:173558009-173558020 chr2:173558010-173558019 chr2:173557935-173557946
42	FOS	chr2:173557636-173558223	HUVEC	blood vessel:	n/a	chr2:173557937-173557945 chr2:173558009-173558020 chr2:173558010-173558019 chr2:173557935-173557946
43	FOS	chr2:173557740-173558232	Hela-S3	cervix:	n/a	chr2:173557937-173557945 chr2:173558009-173558020 chr2:173558010-173558019 chr2:173557935-173557946
44	FOS	chr2:173557731-173558210	MCF10A-Er-Src	breast:	n/a	chr2:173557937-173557945 chr2:173558009-173558020 chr2:173558010-173558019 chr2:173557935-173557946
45	FOSL1	chr2:173557561-173558408	HCT-116	colon:	n/a	chr2:173557937-173557945 chr2:173558009-173558020 chr2:173558010-173558019
46	FOSL1	chr2:173557495-173558487	HCT-116	colon:	n/a	chr2:173557937-173557945 chr2:173558009-173558020 chr2:173558010-173558019
47	FOSL2	chr2:173557769-173558170	HepG2	liver:	n/a	chr2:173557937-173557945 chr2:173558009-173558020 chr2:173558010-173558019
48	FOSL2	chr2:173557682-173558225	MCF-7	breast:	n/a	chr2:173557937-173557945 chr2:173558009-173558020 chr2:173558010-173558019
49	FOSL2	chr2:173557585-173558363	SK-N-SH	brain:	n/a	chr2:173557937-173557945 chr2:173558009-173558020 chr2:173558010-173558019
50	FOSL2	chr2:173557624-173558243	SK-N-SH	brain:	n/a	chr2:173557937-173557945 chr2:173558009-173558020 chr2:173558010-173558019

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:173558030-173558080	SK-N-SH_RA	brain:	n/a
2	chr2:173558030-173558080	AG04449	skin:	fetal
3	chr2:173558030-173558080	MCF10A-Er-Src	breast:	n/a
4	chr2:173558030-173558080	HEK293	kidney:	embryo
5	chr2:173558030-173558080	NT2-D1	testis:	n/a
6	chr2:173558030-173558080	HPAEpiC	pulmonary alveolar:	n/a
7	chr2:173558030-173558080	SK-N-SH	brain:	n/a
8	chr2:173558030-173558080	ovcar-3	ovarian:	n/a
9	chr2:173558030-173558080	HCF	heart:	n/a
10	chr2:173558030-173558080	ECC-1	luminal epithelium:	n/a
11	chr2:173558030-173558080	AoSMC	blood vessel:	n/a
12	chr2:173558030-173558080	A549	lung:	n/a
13	chr2:173558030-173558080	GM12891	blood:	n/a
14	chr2:173558030-173558080	HCT-116	colon:	n/a
15	chr2:173558030-173558080	HRPEpiC	eye:	n/a
16	chr2:173558030-173558080	HNPCEpiC	eye:	n/a
17	chr2:173558030-173558080	SAEC	small airway:	n/a
18	chr2:173558030-173558080	LNCaP	prostate:	n/a
19	chr2:173558030-173558080	NHBE	bronchial:	n/a
20	chr2:173558030-173558080	HRCEpiC	kidney:	n/a
21	chr2:173558030-173558080	GM12892	blood:	n/a
22	chr2:173558030-173558080	SKMC	muscle:	n/a
23	chr2:173558030-173558080	U87	brain:	n/a
24	chr2:173558030-173558080	MCF-7	breast:	n/a
25	chr2:173558030-173558080	PrEC	prostate:	n/a
26	chr2:173558030-173558080	HEEpiC	esophagus:	n/a
27	chr2:173558030-173558080	Hepatocyte	liver:	n/a
28	chr2:173558030-173558080	T-47D	breast:	n/a
29	chr2:173558030-173558080	Caco-2	colon:	n/a
30	chr2:173558030-173558080	GM12878	blood:	n/a
31	chr2:173558030-173558080	Jurkat	blood:	n/a
32	chr2:173558030-173558080	ProgFib	skin:	n/a
33	chr2:173558030-173558080	AG09309	skin:	n/a
34	chr2:173558030-173558080	K562	blood:	n/a
35	chr2:173558030-173558080	PFSK-1	brain:	n/a
36	chr2:173558030-173558080	RPTEC	kidney:	n/a
37	chr2:173558030-173558080	NB4	blood:	n/a
38	chr2:173558030-173558080	BE2_C	brain:	n/a
39	chr2:173558030-173558080	PANC-1	pancreas:	n/a
40	chr2:173558030-173558080	AG04450	lung:	fetal
41	chr2:173558030-173558080	HCPEpiC	choroid plexus:	n/a
42	chr2:173558030-173558080	Hela-S3	cervix:	n/a
43	chr2:173558030-173558080	GM06990	blood:	n/a
44	chr2:173558030-173558080	GM19239	blood:	n/a
45	chr2:173558030-173558080	NH-A	brain:	n/a
46	chr2:173558030-173558080	HCM	heart:	n/a
47	chr2:173558030-173558080	HL-60	blood:	n/a
48	chr2:173558030-173558080	SK-N-MC	brain:	n/a
49	chr2:173558030-173558080	HAEpiC	amniotic membrane:	n/a
50	chr2:173558030-173558080	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173558154..173560301-chr2:173561566..173564675,4	MCF-7	breast:
2	chr2:173544520..173547320-chr2:173551683..173553989,2	K562	blood:

Variant related genes	Relation type
ENSG00000239041	TF binding region
ENSG00000239041	CpG island

Extended variants
information (count: 399 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570763517	chr2:173550179-173550180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113850361	chr2:173550280-173550281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538110560	chr2:173550369-173550370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181926517	chr2:173550428-173550429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10205126	chr2:173550434-173550435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535101243	chr2:173550455-173550456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112517453	chr2:173550487-173550488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572003311	chr2:173550488-173550489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571068971	chr2:173550508-173550509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545988171	chr2:173550509-173550510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151278379	chr2:173550512-173550513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141510347	chr2:173550525-173550526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184977793	chr2:173550537-173550538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7608841	chr2:173550541-173550542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149943752	chr2:173550542-173550543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529337696	chr2:173550551-173550552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10205076	chr2:173550575-173550576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371282698	chr2:173550581-173550582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559807235	chr2:173550582-173550583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116171953	chr2:173550583-173550584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531190613	chr2:173550593-173550594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10190099	chr2:173550622-173550623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs570626160	chr2:173550632-173550633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538016566	chr2:173550677-173550678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550144819	chr2:173550691-173550692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191051590	chr2:173550743-173550744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535440524	chr2:173550747-173550748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74474499	chr2:173550776-173550777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74916838	chr2:173550777-173550778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76253260	chr2:173550778-173550779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553441040	chr2:173550811-173550812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564967927	chr2:173550876-173550877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572125394	chr2:173550934-173550935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74792372	chr2:173550950-173550951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377736727	chr2:173550955-173550956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557412692	chr2:173550956-173550957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371130736	chr2:173550978-173550979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376109645	chr2:173551002-173551003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543609781	chr2:173551006-173551007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181136490	chr2:173551015-173551016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574212619	chr2:173551044-173551045	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs541419367	chr2:173551046-173551047	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs547524096	chr2:173551081-173551082	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs559461949	chr2:173551088-173551089	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs533480897	chr2:173551097-173551098	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs567422288	chr2:173551134-173551135	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs186726249	chr2:173551172-173551173	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs536469556	chr2:173551188-173551189	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs142129229	chr2:173551196-173551197	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs77029868	chr2:173551204-173551205	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173539600-173554200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:173548600-173553000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:173549400-173550400	Enhancers	Fetal Heart	heart
4	chr2:173549800-173557400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:173550400-173557200	Weak transcription	Fetal Heart	heart
6	chr2:173552000-173557400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:173553000-173553400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:173553400-173556800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:173554200-173555200	Enhancers	Primary T cells from cord blood	blood
10	chr2:173554800-173555000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:173555200-173557200	Weak transcription	Primary T cells from cord blood	blood
12	chr2:173555400-173557200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:173556600-173559000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:173556800-173559400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:173556800-173564600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:173557200-173557600	Enhancers	A549	lung
17	chr2:173557200-173557600	Enhancers	Hela-S3	cervix
18	chr2:173557200-173557800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:173557200-173557800	Enhancers	Right Ventricle	heart
20	chr2:173557200-173558000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:173557200-173558000	Enhancers	Primary T cells from cord blood	blood
22	chr2:173557200-173558000	Enhancers	NHEK	skin
23	chr2:173557200-173558200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr2:173557200-173558200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:173557200-173559000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:173557200-173559000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr2:173557200-173559000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:173557200-173559000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr2:173557200-173559000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:173557200-173559000	Enhancers	HMEC	breast
31	chr2:173557200-173559200	Enhancers	Fetal Heart	heart
32	chr2:173557200-173559400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:173557200-173559400	Enhancers	NHDF-Ad	bronchial
34	chr2:173557200-173559400	Enhancers	NHLF	lung
35	chr2:173557400-173557800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr2:173557400-173558000	Enhancers	Fetal Brain Female	brain
37	chr2:173557400-173558200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr2:173557400-173558400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr2:173557400-173558600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:173557400-173558800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:173557400-173558800	Enhancers	Esophagus	oesophagus
42	chr2:173557400-173558800	Enhancers	Rectal Smooth Muscle	rectum
43	chr2:173557400-173558800	Enhancers	HUVEC	blood vessel
44	chr2:173557400-173558800	Enhancers	NH-A	brain
45	chr2:173557400-173559000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:173557400-173559000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:173557400-173559000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:173557400-173559000	Enhancers	Left Ventricle	heart
49	chr2:173557400-173559000	Enhancers	Right Atrium	heart
50	chr2:173557400-173559000	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links