Variant report

Variant	esv3519229
Chromosome Location	chr2:133669598-133674970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:133669705-133669824	NHEK	skin:	n/a	n/a
2	CTCF	chr2:133669682-133669842	A549	lung:	n/a	n/a
3	CTCF	chr2:133669668-133669854	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:133669672-133669786	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr2:133669760-133669910	GM12873	blood:	n/a	n/a
6	CTCF	chr2:133669660-133669810	GM12865	blood:	n/a	n/a
7	CTCF	chr2:133669680-133669830	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr2:133669620-133669770	HVMF	connective:	n/a	n/a
9	CTCF	chr2:133669780-133669930	NHLF	lung:	n/a	n/a
10	CTCF	chr2:133669628-133669838	HepG2	liver:	n/a	n/a
11	CTCF	chr2:133669680-133669830	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr2:133669640-133669790	AG09309	skin:	n/a	n/a
13	CTCF	chr2:133669620-133669770	HAc	cerebellar:	n/a	n/a
14	CTCF	chr2:133669620-133669770	HepG2	liver:	n/a	n/a
15	CTCF	chr2:133669700-133669850	AG09319	gingival:	n/a	n/a
16	CTCF	chr2:133669530-133669869	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:133669660-133669810	AG09319	gingival:	n/a	n/a
18	CTCF	chr2:133669740-133669890	A549	lung:	n/a	n/a
19	CTCF	chr2:133669700-133669850	BE2_C	brain:	n/a	n/a
20	CTCF	chr2:133669740-133669890	HRE	kidney:	n/a	n/a
21	CTCF	chr2:133669660-133669810	HA-sp	spinal cord:	n/a	n/a
22	CTCF	chr2:133669740-133669890	MCF-7	breast:	n/a	n/a
23	CTCF	chr2:133669678-133669834	MCF-7	breast:	n/a	n/a
24	CTCF	chr2:133669700-133669850	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr2:133669680-133669830	Caco-2	colon:	n/a	n/a
26	CTCF	chr2:133669578-133669848	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr2:133669660-133669810	RPTEC	kidney:	n/a	n/a
28	CTCF	chr2:133669660-133669810	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr2:133669600-133669750	AG10803	skin:	n/a	n/a
30	CTCF	chr2:133669661-133669862	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr2:133669600-133669750	HCM	heart:	n/a	n/a
32	CTCF	chr2:133669700-133669850	GM12872	blood:	n/a	n/a
33	CTCF	chr2:133669660-133669810	Caco-2	colon:	n/a	n/a
34	CTCF	chr2:133669680-133669830	AG04449	skin:	n/a	n/a
35	CTCF	chr2:133669660-133669810	GM12874	blood:	n/a	n/a
36	CTCF	chr2:133669740-133669890	AG04450	lung:	n/a	n/a
37	CTCF	chr2:133669600-133669750	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr2:133669676-133669828	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:133669651-133669851	Fibrobl	skin:	n/a	n/a
40	CTCF	chr2:133669780-133669930	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:133669520-133669670	NHLF	lung:	n/a	n/a
42	CTCF	chr2:133669640-133669790	HMEC	breast:	n/a	n/a
43	CTCF	chr2:133669700-133669850	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr2:133669710-133669800	Medullo	brain:	n/a	n/a
45	CTCF	chr2:133669620-133669770	RPTEC	kidney:	n/a	n/a
46	CTCF	chr2:133669686-133669786	GM19239	blood:	n/a	n/a
47	CTCF	chr2:133669633-133669870	IMR90	lung:	n/a	n/a
48	CTCF	chr2:133669674-133669847	GM19238	blood:	n/a	n/a
49	CTCF	chr2:133669500-133669650	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr2:133669620-133669770	HPF	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:133672682-133672732	Jurkat	blood:	n/a
2	chr2:133672682-133672732	HCT-116	colon:	n/a
3	chr2:133672682-133672732	HAEpiC	amniotic membrane:	n/a
4	chr2:133670347-133670397	SAEC	small airway:	n/a
5	chr2:133672682-133672732	HMEC	breast:	n/a
6	chr2:133670347-133670397	HRPEpiC	eye:	n/a
7	chr2:133672682-133672732	AoSMC	blood vessel:	n/a
8	chr2:133670347-133670397	Caco-2	colon:	n/a
9	chr2:133672682-133672732	HPAEpiC	pulmonary alveolar:	n/a
10	chr2:133670347-133670397	Jurkat	blood:	n/a
11	chr2:133672682-133672732	MCF-7	breast:	n/a
12	chr2:133672682-133672732	SK-N-SH	brain:	n/a
13	chr2:133672682-133672732	GM19239	blood:	n/a
14	chr2:133670347-133670397	GM12892	blood:	n/a
15	chr2:133672682-133672732	SKMC	muscle:	n/a
16	chr2:133670347-133670397	GM06990	blood:	n/a
17	chr2:133670347-133670397	A549	lung:	n/a
18	chr2:133672682-133672732	SAEC	small airway:	n/a
19	chr2:133670347-133670397	RPTEC	kidney:	n/a
20	chr2:133672682-133672732	HNPCEpiC	eye:	n/a
21	chr2:133670347-133670397	NT2-D1	testis:	n/a
22	chr2:133672682-133672732	GM12891	blood:	n/a
23	chr2:133672682-133672732	AG09309	skin:	n/a
24	chr2:133670347-133670397	NB4	blood:	n/a
25	chr2:133670347-133670397	PANC-1	pancreas:	n/a
26	chr2:133672682-133672732	HRE	kidney:	n/a
27	chr2:133672682-133672732	GM12878	blood:	n/a
28	chr2:133672682-133672732	HepG2	liver:	n/a
29	chr2:133670347-133670397	Hepatocyte	liver:	n/a
30	chr2:133670347-133670397	HepG2	liver:	n/a
31	chr2:133670347-133670397	K562	blood:	n/a
32	chr2:133672682-133672732	HEK293	kidney:	embryo
33	chr2:133670347-133670397	MCF-7	breast:	n/a
34	chr2:133670347-133670397	HIPEpiC	eye:	n/a
35	chr2:133670347-133670397	BJ	skin:	n/a
36	chr2:133670347-133670397	HMEC	breast:	n/a
37	chr2:133672682-133672732	Hepatocyte	liver:	n/a
38	chr2:133670347-133670397	NHDF-neo	bronchial:	n/a
39	chr2:133670347-133670397	NH-A	brain:	n/a
40	chr2:133672682-133672732	NH-A	brain:	n/a
41	chr2:133670347-133670397	NHBE	bronchial:	n/a
42	chr2:133672682-133672732	A549	lung:	n/a
43	chr2:133670347-133670397	SKMC	muscle:	n/a
44	chr2:133672682-133672732	MCF10A-Er-Src	breast:	n/a
45	chr2:133670347-133670397	AG09309	skin:	n/a
46	chr2:133672682-133672732	AG04450	lung:	fetal
47	chr2:133670347-133670397	Hela-S3	cervix:	n/a
48	chr2:133672682-133672732	T-47D	breast:	n/a
49	chr2:133670347-133670397	CMK	blood:	n/a
50	chr2:133672682-133672732	U87	brain:	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-3	chr2:133673130-133673224	ENSG00000233729.1

No data

Variant related genes	Relation type
ENSG00000228721	TF binding region
ENSG00000233729	TF binding region
ENSG00000228721	CpG island
ENSG00000233729	CpG island

Extended variants
information (count: 183 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546763582	chr2:133669628-133669629	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs577480915	chr2:133669645-133669646	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs561962153	chr2:133669707-133669708	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs146391757	chr2:133669732-133669733	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs16843371	chr2:133669749-133669750	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561287472	chr2:133669780-133669781	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs375642659	chr2:133669785-133669786	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs72994809	chr2:133669795-133669796	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138524132	chr2:133669798-133669799	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs532493370	chr2:133669809-133669810	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs188755702	chr2:133669833-133669834	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs547996716	chr2:133669848-133669849	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs566124897	chr2:133669860-133669861	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs141123595	chr2:133669864-133669865	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs150265819	chr2:133669871-133669872	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs569323724	chr2:133669956-133669957	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs536691988	chr2:133669962-133669963	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs138911199	chr2:133669985-133669986	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs116214477	chr2:133670003-133670004	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs181439136	chr2:133670014-133670015	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs60127947	chr2:133670052-133670053	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs376915216	chr2:133670059-133670060	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs149408843	chr2:133670063-133670064	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs535749464	chr2:133670123-133670124	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs560985749	chr2:133670130-133670131	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs575600103	chr2:133670163-133670164	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs543881801	chr2:133670184-133670185	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs144772967	chr2:133670186-133670187	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs577299377	chr2:133670282-133670283	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs541130028	chr2:133670340-133670341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530484888	chr2:133670347-133670348	Weak transcription Enhancers	CpG island	2 gene(s)	Overlapped CNVs	n/a
32	rs552205254	chr2:133670348-133670349	Weak transcription Enhancers	CpG island	2 gene(s)	Overlapped CNVs	n/a
33	rs530193251	chr2:133670366-133670367	Weak transcription Enhancers	CpG island	2 gene(s)	Overlapped CNVs	n/a
34	rs112803306	chr2:133670380-133670381	Weak transcription Enhancers	CpG island	2 gene(s)	Overlapped CNVs	n/a
35	rs189428839	chr2:133670408-133670409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563687363	chr2:133670455-133670456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531088439	chr2:133670470-133670471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79268550	chr2:133670477-133670478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146714430	chr2:133670478-133670479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552184618	chr2:133670489-133670490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74443432	chr2:133670515-133670516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138400955	chr2:133670540-133670541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567795522	chr2:133670590-133670591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546330098	chr2:133670593-133670594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182589324	chr2:133670602-133670603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535686531	chr2:133670609-133670610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143907772	chr2:133670654-133670655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185861907	chr2:133670659-133670660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370571206	chr2:133670680-133670681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539335902	chr2:133670692-133670693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133667200-133681600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:133667600-133669600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:133667600-133673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:133668800-133676400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:133669200-133669800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:133669200-133669800	Enhancers	Adipose Nuclei	Adipose
7	chr2:133669200-133669800	Enhancers	Colon Smooth Muscle	Colon
8	chr2:133669200-133669800	Enhancers	Fetal Lung	lung
9	chr2:133669200-133670200	Enhancers	Fetal Stomach	stomach
10	chr2:133669400-133669800	Enhancers	Fetal Muscle Trunk	muscle
11	chr2:133669400-133669800	Enhancers	Lung	lung
12	chr2:133669400-133670200	Enhancers	Fetal Muscle Leg	muscle
13	chr2:133669400-133670400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:133669600-133670400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:133669800-133672600	Weak transcription	Adipose Nuclei	Adipose
16	chr2:133669800-133672800	Weak transcription	Fetal Lung	lung
17	chr2:133669800-133672800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:133670200-133672800	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:133670400-133672600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:133670400-133673400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:133672200-133673600	Enhancers	Fetal Heart	heart
22	chr2:133672600-133673000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:133672600-133674200	Enhancers	Adipose Nuclei	Adipose
24	chr2:133672800-133673000	Enhancers	Lung	lung
25	chr2:133672800-133673200	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:133672800-133673400	Enhancers	Fetal Muscle Leg	muscle
27	chr2:133672800-133673400	Enhancers	Right Atrium	heart
28	chr2:133672800-133674000	Enhancers	Fetal Lung	lung
29	chr2:133672800-133674000	Enhancers	Right Ventricle	heart
30	chr2:133672800-133674400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:133673000-133674200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:133673000-133681000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:133673200-133674000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:133673400-133674000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:133673600-133688800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:133673800-133674000	Enhancers	Lung	lung
37	chr2:133674000-133676400	Weak transcription	Fetal Lung	lung

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