Variant report

Variant	nsv874168
Chromosome Location	chr2:56363377-56393918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:110)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:110 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:56369951-56370064	K562	blood:	n/a	n/a
2	BHLHE40	chr2:56376113-56376321	GM12878	blood:	n/a	n/a
3	BHLHE40	chr2:56378263-56378301	A549	lung:	n/a	n/a
4	CBX3	chr2:56369741-56370525	K562	blood:	n/a	n/a
5	CCNT2	chr2:56369943-56370092	K562	blood:	n/a	n/a
6	CEBPD	chr2:56369856-56370268	K562	blood:	n/a	n/a
7	CHD2	chr2:56369846-56370223	K562	blood:	n/a	n/a
8	CTCF	chr2:56393480-56393630	HA-sp	spinal cord:	n/a	n/a
9	CTCF	chr2:56385280-56385430	GM06990	blood:	n/a	n/a
10	CUX1	chr2:56370191-56370198	K562	blood:	n/a	n/a
11	E2F6	chr2:56369920-56370053	K562	blood:	n/a	n/a
12	EGR1	chr2:56369884-56370186	K562	blood:	n/a	n/a
13	EGR1	chr2:56369866-56370243	K562	blood:	n/a	n/a
14	ELF1	chr2:56369851-56370105	K562	blood:	n/a	n/a
15	ELF1	chr2:56369849-56370061	K562	blood:	n/a	n/a
16	EP300	chr2:56369825-56370208	K562	blood:	n/a	n/a
17	EP300	chr2:56372771-56372788	GM12878	blood:	n/a	n/a
18	EP300	chr2:56379850-56379871	GM12878	blood:	n/a	n/a
19	EP300	chr2:56373745-56373902	K562	blood:	n/a	n/a
20	FOS	chr2:56381784-56382156	HUVEC	blood vessel:	n/a	chr2:56381924-56381935
21	FOS	chr2:56381812-56382133	MCF10A-Er-Src	breast:	n/a	chr2:56381924-56381935
22	FOS	chr2:56381803-56382109	MCF10A-Er-Src	breast:	n/a	chr2:56381924-56381935
23	FOS	chr2:56381829-56382109	MCF10A-Er-Src	breast:	n/a	chr2:56381924-56381935
24	FOXA1	chr2:56374714-56375043	T-47D	breast:	n/a	n/a
25	FOXA1	chr2:56374742-56374978	T-47D	breast:	n/a	n/a
26	FOXA1	chr2:56369832-56370116	HepG2	liver:	n/a	n/a
27	FOXA2	chr2:56369608-56370258	A549	lung:	n/a	n/a
28	FOXA2	chr2:56369876-56370052	HepG2	liver:	n/a	n/a
29	GATA3	chr2:56374591-56374969	T-47D	breast:	n/a	n/a
30	GATA3	chr2:56374590-56375022	T-47D	breast:	n/a	n/a
31	GATA3	chr2:56374531-56375141	MCF-7	breast:	n/a	n/a
32	GTF2B	chr2:56369950-56370149	K562	blood:	n/a	n/a
33	GTF2F1	chr2:56370028-56370140	K562	blood:	n/a	n/a
34	HCFC1	chr2:56369956-56370026	K562	blood:	n/a	n/a
35	HDAC2	chr2:56369887-56370194	K562	blood:	n/a	n/a
36	HEY1	chr2:56369865-56370148	K562	blood:	n/a	n/a
37	HEY1	chr2:56369887-56370206	K562	blood:	n/a	n/a
38	HMGN3	chr2:56369852-56370099	K562	blood:	n/a	n/a
39	IRF1	chr2:56372818-56373164	K562	blood:	n/a	n/a
40	IRF1	chr2:56369885-56370033	K562	blood:	n/a	n/a
41	IRF1	chr2:56369837-56370135	K562	blood:	n/a	n/a
42	JUND	chr2:56369830-56370357	K562	blood:	n/a	n/a
43	MAFK	chr2:56370245-56370391	K562	blood:	n/a	n/a
44	MAX	chr2:56382559-56382570	A549	lung:	n/a	n/a
45	MAX	chr2:56369893-56370116	K562	blood:	n/a	n/a
46	MAX	chr2:56369854-56370165	K562	blood:	n/a	n/a
47	MAX	chr2:56382406-56382704	NB4	blood:	n/a	chr2:56382510-56382525 chr2:56382514-56382524 chr2:56382550-56382560 chr2:56382512-56382525 chr2:56382512-56382525 chr2:56382513-56382524 chr2:56382513-56382524 chr2:56382513-56382523
48	MAX	chr2:56369844-56370202	K562	blood:	n/a	n/a
49	MAZ	chr2:56369833-56370198	K562	blood:	n/a	n/a
50	MYC	chr2:56369829-56370200	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:56369334..56371717-chr2:56376735..56378498,2	K562	blood:
2	chr2:56375448..56377112-chr2:56391906..56393998,2	K562	blood:
3	chr2:56373950..56376355-chr2:56383200..56384909,2	MCF-7	breast:
4	chr2:56387289..56389369-chr2:56393881..56395588,2	K562	blood:
5	chr2:56387289..56389369-chr2:56393881..56395588,2	K562	blood:
6	chr2:56369334..56371717-chr2:56376735..56378498,2	K562	blood:
7	chr2:56369245..56372888-chr2:56373093..56376542,5	K562	blood:
8	chr2:56375448..56377112-chr2:56391906..56393998,2	K562	blood:
9	chr2:56370169..56372361-chr2:56373050..56375591,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC85A-2	chr2:56374765-56374875	ENSG00000272180.1
2	lnc-CCDC85A-2	chr2:56374765-56374879	NONHSAT070820

No data

Variant related genes	Relation type
ENSG00000271894	TF binding region
ENSG00000271894	chromatin interactions

Extended variants
information (count: 1407 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1407 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6751715	chr2:56363377-56363378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs533408547	chr2:56363426-56363427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547164584	chr2:56363448-56363449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374363170	chr2:56363456-56363457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560302526	chr2:56363472-56363473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145488820	chr2:56363504-56363505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549019225	chr2:56363506-56363507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113111979	chr2:56363528-56363529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561951618	chr2:56363530-56363531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148826676	chr2:56363543-56363544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185964234	chr2:56363626-56363627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530972366	chr2:56363641-56363642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191205916	chr2:56363682-56363683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182944478	chr2:56363697-56363698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533786994	chr2:56363710-56363711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553509703	chr2:56363711-56363712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573023467	chr2:56363727-56363728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72801106	chr2:56363732-56363733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs6545546	chr2:56363758-56363759	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533672170	chr2:56363761-56363762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575579892	chr2:56363763-56363764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544593075	chr2:56363785-56363786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564669761	chr2:56363792-56363793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188388627	chr2:56363805-56363806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373464059	chr2:56363817-56363818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191987653	chr2:56363820-56363821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142492374	chr2:56363867-56363868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529011958	chr2:56363940-56363941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549131791	chr2:56364045-56364046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114309550	chr2:56364105-56364106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531256912	chr2:56364119-56364120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551348135	chr2:56364131-56364132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571460581	chr2:56364166-56364167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527555084	chr2:56364176-56364177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146524443	chr2:56364182-56364183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182946455	chr2:56364198-56364199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566830473	chr2:56364242-56364243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187583815	chr2:56364247-56364248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192516781	chr2:56364249-56364250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555485691	chr2:56364276-56364277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569323021	chr2:56364281-56364282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141145197	chr2:56364285-56364286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535956105	chr2:56364322-56364323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555869376	chr2:56364335-56364336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144868630	chr2:56364377-56364378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372768000	chr2:56364379-56364380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554491847	chr2:56364384-56364385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185882146	chr2:56364387-56364388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543241169	chr2:56364388-56364389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562486148	chr2:56364392-56364393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56350600-56375000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:56351200-56370000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:56362200-56363400	Weak transcription	Placenta	Placenta
4	chr2:56363600-56363800	Enhancers	Placenta	Placenta
5	chr2:56367200-56369600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:56369200-56370000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:56369600-56370600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr2:56370000-56370200	Active TSS	K562	blood
9	chr2:56370000-56370400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr2:56370000-56370600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:56370200-56371000	Flanking Active TSS	K562	blood
12	chr2:56370400-56377600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:56370600-56374600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:56370600-56375000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:56371000-56372600	Weak transcription	K562	blood
16	chr2:56372200-56375400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:56372600-56375600	Enhancers	K562	blood
18	chr2:56373400-56373600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:56373600-56374600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:56373800-56378400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:56374600-56376800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:56374600-56378800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:56375000-56375600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:56375000-56375800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr2:56375000-56376200	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr2:56375400-56375800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:56375800-56377400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:56375800-56378400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:56376000-56378800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:56376200-56376600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:56376200-56378200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:56378200-56378800	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr2:56378800-56386800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:56378800-56403000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:56386800-56387400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:56387400-56397400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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