Variant report

Variant	nsv875471
Chromosome Location	chr2:180448523-180469778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:177)
CpG islands
(count:245)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:177 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr2:180449943-180450121	K562	blood:	n/a	n/a
2	CEBPB	chr2:180449568-180449804	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:180460113-180460141	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr2:180460730-180461044	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr2:180460732-180461079	IMR90	lung:	n/a	n/a
6	CEBPB	chr2:180460742-180461069	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr2:180449555-180449891	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr2:180460123-180460267	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr2:180460148-180460315	HepG2	liver:	n/a	n/a
10	CTCF	chr2:180460220-180460370	GM12871	blood:	n/a	n/a
11	CTCF	chr2:180452600-180452750	HRE	kidney:	n/a	n/a
12	CTCF	chr2:180460212-180460248	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr2:180460200-180460350	HMEC	breast:	n/a	n/a
14	CTCF	chr2:180460080-180460380	IMR90	lung:	n/a	n/a
15	CTCF	chr2:180460120-180460270	GM12864	blood:	n/a	n/a
16	CTCF	chr2:180460142-180460307	GM12892	blood:	n/a	n/a
17	CTCF	chr2:180460180-180460330	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr2:180460120-180460270	GM12872	blood:	n/a	n/a
19	CTCF	chr2:180460160-180460310	HRE	kidney:	n/a	n/a
20	CTCF	chr2:180460160-180460310	NHEK	skin:	n/a	n/a
21	CTCF	chr2:180460119-180460336	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:180460142-180460307	Fibrobl	skin:	n/a	n/a
23	CTCF	chr2:180460180-180460246	GM12891	blood:	n/a	n/a
24	CTCF	chr2:180460180-180460330	AG04450	lung:	n/a	n/a
25	CTCF	chr2:180460220-180460370	NHLF	lung:	n/a	n/a
26	CTCF	chr2:180460194-180460274	Medullo	brain:	n/a	n/a
27	CTCF	chr2:180460142-180460332	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:180460198-180460252	GM12878	blood:	n/a	n/a
29	CTCF	chr2:180460220-180460370	RPTEC	kidney:	n/a	n/a
30	CTCF	chr2:180460123-180460315	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr2:180455395-180455483	GM13976	blood:	n/a	n/a
32	CTCF	chr2:180460160-180460310	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr2:180460130-180460327	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr2:180460117-180460346	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:180460187-180460287	GM19238	blood:	n/a	n/a
36	CTCF	chr2:180460180-180460330	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:180460100-180460250	AG04449	skin:	n/a	n/a
38	CTCF	chr2:180460135-180460361	GM12878	blood:	n/a	n/a
39	CTCF	chr2:180460124-180460333	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:180460133-180460319	Gliobla	brain:	n/a	n/a
41	CTCF	chr2:180460200-180460350	RPTEC	kidney:	n/a	n/a
42	CTCF	chr2:180460180-180460330	GM12865	blood:	n/a	n/a
43	CTCF	chr2:180460220-180460370	GM12875	blood:	n/a	n/a
44	CTCF	chr2:180460180-180460330	GM06990	blood:	n/a	n/a
45	CTCF	chr2:180460120-180460270	HCFaa	heart:	n/a	n/a
46	CTCF	chr2:180460160-180460310	HEK293	kidney:	n/a	n/a
47	CTCF	chr2:180460191-180460303	K562	blood:	n/a	n/a
48	CTCF	chr2:180460180-180460330	BJ	skin:	n/a	n/a
49	CTCF	chr2:180460140-180460290	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr2:180460180-180460330	WERI-Rb-1	eye:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:180454681-180454731	AG04450	lung:	fetal
2	chr2:180454681-180454731	AG04450	lung:	fetal
3	chr2:180457494-180457544	PFSK-1	brain:	n/a
4	chr2:180451222-180451272	BJ	skin:	n/a
5	chr2:180457494-180457544	Caco-2	colon:	n/a
6	chr2:180451222-180451272	HCPEpiC	choroid plexus:	n/a
7	chr2:180451203-180451253	Jurkat	blood:	n/a
8	chr2:180451222-180451272	PFSK-1	brain:	n/a
9	chr2:180451203-180451253	AG09309	skin:	n/a
10	chr2:180451203-180451253	T-47D	breast:	n/a
11	chr2:180451222-180451272	U87	brain:	n/a
12	chr2:180454681-180454731	NH-A	brain:	n/a
13	chr2:180451222-180451272	NT2-D1	testis:	n/a
14	chr2:180451203-180451253	Hepatocyte	liver:	n/a
15	chr2:180457494-180457544	AG10803	skin:	n/a
16	chr2:180451203-180451253	BJ	skin:	n/a
17	chr2:180451222-180451272	HRE	kidney:	n/a
18	chr2:180454681-180454731	HEEpiC	esophagus:	n/a
19	chr2:180454681-180454731	HIPEpiC	eye:	n/a
20	chr2:180457494-180457544	HRCEpiC	kidney:	n/a
21	chr2:180454681-180454731	HL-60	blood:	n/a
22	chr2:180451222-180451272	SAEC	small airway:	n/a
23	chr2:180457494-180457544	BE2_C	brain:	n/a
24	chr2:180451222-180451272	SK-N-SH	brain:	n/a
25	chr2:180457494-180457544	HCM	heart:	n/a
26	chr2:180451203-180451253	Hela-S3	cervix:	n/a
27	chr2:180451203-180451253	HEEpiC	esophagus:	n/a
28	chr2:180454681-180454731	PFSK-1	brain:	n/a
29	chr2:180454681-180454731	SAEC	small airway:	n/a
30	chr2:180451222-180451272	NHDF-neo	bronchial:	n/a
31	chr2:180451222-180451272	HL-60	blood:	n/a
32	chr2:180451222-180451272	HRCEpiC	kidney:	n/a
33	chr2:180457494-180457544	SK-N-SH_RA	brain:	n/a
34	chr2:180451222-180451272	Hepatocyte	liver:	n/a
35	chr2:180451222-180451272	HepG2	liver:	n/a
36	chr2:180451203-180451253	MCF10A-Er-Src	breast:	n/a
37	chr2:180451203-180451253	GM12892	blood:	n/a
38	chr2:180451203-180451253	K562	blood:	n/a
39	chr2:180451222-180451272	IMR90	lung:	fetal
40	chr2:180451222-180451272	GM12891	blood:	n/a
41	chr2:180457494-180457544	Hepatocyte	liver:	n/a
42	chr2:180451203-180451253	NHDF-neo	bronchial:	n/a
43	chr2:180457494-180457544	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:180454681-180454731	HPAEpiC	pulmonary alveolar:	n/a
45	chr2:180454681-180454731	U87	brain:	n/a
46	chr2:180451222-180451272	NB4	blood:	n/a
47	chr2:180451222-180451272	AG10803	skin:	n/a
48	chr2:180457494-180457544	BJ	skin:	n/a
49	chr2:180451222-180451272	ovcar-3	ovarian:	n/a
50	chr2:180457494-180457544	NH-A	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:180466180..180468206-chr2:180468630..180471085,2	MCF-7	breast:
2	chr2:180466180..180468206-chr2:180468630..180471085,2	MCF-7	breast:
3	chr2:180448727..180451606-chr2:180451820..180453949,2	K562	blood:
4	chr2:180459993..180460542-chr2:180511399..180512209,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF385B	TF binding region
ZNF385B	CpG island
ENSG00000144331	chromatin interactions

Extended variants
information (count: 727 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:727 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11695089	chr2:180448523-180448524	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559921929	chr2:180448530-180448531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549353367	chr2:180448564-180448565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368711604	chr2:180448587-180448588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528575793	chr2:180448600-180448601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547592729	chr2:180448763-180448764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372139987	chr2:180448847-180448848	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs564093961	chr2:180448850-180448851	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs116357779	chr2:180448891-180448892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549765203	chr2:180448927-180448928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139977018	chr2:180448958-180448959	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs372065350	chr2:180448992-180448993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535111902	chr2:180449014-180449015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548546125	chr2:180449037-180449038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182332715	chr2:180449049-180449050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10189196	chr2:180449096-180449097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185281627	chr2:180449111-180449112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565988681	chr2:180449138-180449139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190230511	chr2:180449139-180449140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3106713	chr2:180449157-180449158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs372976866	chr2:180449197-180449198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114578463	chr2:180449212-180449213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34655571	chr2:180449224-180449225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143526692	chr2:180449238-180449239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548179635	chr2:180449293-180449294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574372628	chr2:180449304-180449305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567919104	chr2:180449346-180449347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79751544	chr2:180449432-180449433	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs573392821	chr2:180449443-180449444	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs545133329	chr2:180449469-180449470	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs72958001	chr2:180449540-180449541	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534839822	chr2:180449709-180449710	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs150823962	chr2:180449767-180449768	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs139268573	chr2:180449839-180449840	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs563280051	chr2:180449921-180449922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16866809	chr2:180449982-180449983	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150000527	chr2:180450035-180450036	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs74766933	chr2:180450109-180450110	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs538868138	chr2:180450116-180450117	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs181411697	chr2:180450135-180450136	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs551228912	chr2:180450140-180450141	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs16866810	chr2:180450163-180450164	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs80004068	chr2:180450276-180450277	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs145261655	chr2:180450282-180450283	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs116624304	chr2:180450317-180450318	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs574399935	chr2:180450347-180450348	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs142488865	chr2:180450365-180450366	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs17818050	chr2:180450382-180450383	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375875366	chr2:180450442-180450443	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs185549313	chr2:180450464-180450465	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180435200-180461000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:180445200-180450600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr2:180445600-180449400	Weak transcription	Right Atrium	heart
4	chr2:180445800-180449200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:180445800-180449200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:180445800-180449200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:180446000-180449200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:180446200-180449200	Weak transcription	Fetal Heart	heart
9	chr2:180446400-180449200	Weak transcription	Liver	Liver
10	chr2:180446800-180449200	Weak transcription	HepG2	liver
11	chr2:180449200-180449800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:180449200-180450000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:180449200-180450000	Enhancers	Liver	Liver
14	chr2:180449200-180450000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:180449200-180450000	Enhancers	Fetal Heart	heart
16	chr2:180449200-180450200	Enhancers	HepG2	liver
17	chr2:180449200-180451200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:180449400-180449600	Enhancers	Psoas Muscle	Psoas
19	chr2:180449400-180449800	Enhancers	Right Atrium	heart
20	chr2:180449400-180449800	Enhancers	Hela-S3	cervix
21	chr2:180449600-180453200	Weak transcription	Psoas Muscle	Psoas
22	chr2:180449800-180456600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:180450000-180456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:180450600-180453200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:180451200-180453200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:180452400-180454600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:180453200-180453600	Enhancers	Psoas Muscle	Psoas
28	chr2:180453200-180454200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:180453200-180454600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:180453200-180454800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:180453200-180455000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:180453400-180453800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:180453400-180454000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:180453600-180456400	Weak transcription	Psoas Muscle	Psoas
35	chr2:180453800-180454200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:180454000-180454600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:180454000-180455000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:180454200-180456200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:180454400-180455600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:180454600-180455400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:180454600-180456200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:180455000-180455400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:180455000-180456200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:180455000-180456400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:180455400-180456400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:180455400-180457200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:180456000-180456400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:180456200-180456600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:180456200-180456600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:180456200-180456800	Enhancers	HSMM	muscle

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