Variant report

Variant	nsv581402
Chromosome Location	chr2:35670916-35702533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:185)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:185 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:35674694-35675078	MCF-7	breast:	n/a	n/a
2	CEBPB	chr2:35695683-35695686	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:35686874-35687275	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:35680160-35680310	AG04449	skin:	n/a	n/a
5	CTCF	chr2:35680181-35680294	GM19238	blood:	n/a	n/a
6	CTCF	chr2:35680197-35680268	GM19239	blood:	n/a	n/a
7	CTCF	chr2:35680120-35680270	HRPEpiC	eye:	n/a	n/a
8	CTCF	chr2:35680185-35680297	GM12878	blood:	n/a	n/a
9	CTCF	chr2:35680180-35680330	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr2:35680140-35680290	GM12873	blood:	n/a	n/a
11	CTCF	chr2:35680220-35680370	GM12870	blood:	n/a	n/a
12	CTCF	chr2:35680160-35680310	GM12875	blood:	n/a	n/a
13	CTCF	chr2:35680198-35680290	GM19240	blood:	n/a	n/a
14	CTCF	chr2:35680160-35680310	GM12866	blood:	n/a	n/a
15	CTCF	chr2:35680140-35680290	GM12867	blood:	n/a	n/a
16	CTCF	chr2:35680163-35680274	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr2:35680163-35680286	GM12891	blood:	n/a	n/a
18	CTCF	chr2:35680140-35680290	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr2:35680060-35680210	HRE	kidney:	n/a	n/a
20	CTCF	chr2:35680118-35680354	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:35680140-35680290	GM12864	blood:	n/a	n/a
22	CTCF	chr2:35680140-35680290	HepG2	liver:	n/a	n/a
23	CTCF	chr2:35680100-35680250	RPTEC	kidney:	n/a	n/a
24	CTCF	chr2:35680182-35680239	GM13977	blood:	n/a	n/a
25	CTCF	chr2:35680140-35680290	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr2:35680120-35680270	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr2:35680160-35680310	GM12874	blood:	n/a	n/a
28	CTCF	chr2:35680100-35680250	HMF	breast:	n/a	n/a
29	CTCF	chr2:35680140-35680290	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr2:35680140-35680290	HCM	heart:	n/a	n/a
31	CTCF	chr2:35680158-35680363	ProgFib	skin:	n/a	n/a
32	CTCF	chr2:35680296-35680346	GM20000	blood:	n/a	n/a
33	CTCF	chr2:35680120-35680270	GM12878	blood:	n/a	n/a
34	CTCF	chr2:35680147-35680302	NHEK	skin:	n/a	n/a
35	CTCF	chr2:35680120-35680270	A549	lung:	n/a	n/a
36	CTCF	chr2:35680100-35680250	HPF	lung:	n/a	n/a
37	CTCF	chr2:35680180-35680330	HPF	lung:	n/a	n/a
38	CTCF	chr2:35680040-35680190	BE2_C	brain:	n/a	n/a
39	CTCF	chr2:35680180-35680330	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr2:35680131-35680326	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:35680160-35680310	HEK293	kidney:	n/a	n/a
42	CTCF	chr2:35680120-35680270	GM12871	blood:	n/a	n/a
43	CTCF	chr2:35680120-35680270	GM12865	blood:	n/a	n/a
44	CTCF	chr2:35680300-35680450	HAc	cerebellar:	n/a	n/a
45	CTCF	chr2:35680160-35680310	NHEK	skin:	n/a	n/a
46	CTCF	chr2:35680140-35680290	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr2:35680060-35680210	HCT-116	colon:	n/a	n/a
48	CTCF	chr2:35680134-35680291	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr2:35680179-35680283	LNCaP	prostate:	n/a	n/a
50	CTCF	chr2:35680120-35680270	HCFaa	heart:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:35685603..35687345-chr2:35690892..35693607,2	K562	blood:
2	chr2:35696604..35698364-chr2:35701530..35703785,2	MCF-7	breast:
3	chr2:35685603..35687345-chr2:35690892..35693607,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548ad	chr2:35696519-35696540	MIMAT0018946

No data

Variant related genes	Relation type
RNU6-1117P	TF binding region
MIR548AD	TF binding region
ENSG00000229013	TF binding region
ENSG00000229013	chromatin interactions
ENSG00000207255	chromatin interactions

Extended variants
information (count: 1408 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1408 , 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	rs11675868	chr2:35670916-35670917	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188081074	chr2:35670940-35670941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570040806	chr2:35670942-35670943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538943793	chr2:35670945-35670946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34935525	chr2:35670958-35670959	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144648598	chr2:35670961-35670962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191545465	chr2:35670976-35670977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554785861	chr2:35671005-35671006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147953669	chr2:35671009-35671010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537086929	chr2:35671019-35671020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183713269	chr2:35671040-35671041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370422073	chr2:35671041-35671042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187796733	chr2:35671050-35671051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71451222	chr2:35671094-35671095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192955102	chr2:35671101-35671102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35649429	chr2:35671149-35671150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572956630	chr2:35671188-35671189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541980446	chr2:35671190-35671191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116118457	chr2:35671196-35671197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530604605	chr2:35671281-35671282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543850112	chr2:35671289-35671290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563728226	chr2:35671302-35671303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532726540	chr2:35671340-35671341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529545229	chr2:35671358-35671359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77104416	chr2:35671389-35671390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528692248	chr2:35671421-35671422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548745989	chr2:35671428-35671429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74591146	chr2:35671471-35671472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376084802	chr2:35671480-35671481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376023388	chr2:35671490-35671491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550947426	chr2:35671539-35671540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537541628	chr2:35671544-35671545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150442938	chr2:35671546-35671547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370134271	chr2:35671610-35671611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570871212	chr2:35671626-35671627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138276168	chr2:35671660-35671661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553326497	chr2:35671665-35671666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573059091	chr2:35671672-35671673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541685061	chr2:35671814-35671815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149049901	chr2:35671825-35671826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183505669	chr2:35671835-35671836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543911099	chr2:35671878-35671879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10196368	chr2:35671887-35671888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532784436	chr2:35671888-35671889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368534988	chr2:35671890-35671891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143090239	chr2:35671895-35671896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370530673	chr2:35671904-35671905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116227272	chr2:35671913-35671914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528762759	chr2:35671924-35671925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548547957	chr2:35671928-35671929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35668600-35680200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:35669400-35671600	Weak transcription	Dnd41	blood
3	chr2:35670000-35671000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:35670400-35672600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:35671000-35671400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:35671400-35673200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:35671600-35672800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:35671600-35673600	Enhancers	Dnd41	blood
9	chr2:35672400-35672800	Enhancers	Fetal Stomach	stomach
10	chr2:35672400-35673000	Enhancers	HSMMtube	muscle
11	chr2:35672600-35673000	Enhancers	Fetal Muscle Leg	muscle
12	chr2:35672600-35673200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:35673200-35674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:35674600-35674800	Enhancers	Fetal Stomach	stomach
15	chr2:35674600-35675800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:35675600-35676400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:35675800-35676800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:35676800-35677000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:35677000-35677400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:35677400-35678600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:35678600-35679400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:35679200-35680000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:35679400-35680000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:35679400-35680400	Enhancers	HMEC	breast
25	chr2:35680000-35687400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:35680200-35680600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:35680200-35680600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:35680200-35680800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:35686600-35687400	Enhancers	NH-A	brain
30	chr2:35686600-35689000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:35686600-35689600	Enhancers	HSMM	muscle
32	chr2:35687200-35687400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:35687400-35687800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:35687400-35687800	Enhancers	HSMMtube	muscle
35	chr2:35687400-35687800	Flanking Active TSS	NH-A	brain
36	chr2:35687400-35687800	Enhancers	NHLF	lung
37	chr2:35687400-35688200	Enhancers	Fetal Brain Male	brain
38	chr2:35687400-35688400	Enhancers	HMEC	breast
39	chr2:35687600-35688800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:35687600-35689200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:35687800-35688200	Weak transcription	NHLF	lung
42	chr2:35687800-35689600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:35687800-35689600	Enhancers	NH-A	brain
44	chr2:35688200-35688800	Enhancers	NHLF	lung
45	chr2:35688400-35689000	Weak transcription	HMEC	breast
46	chr2:35688600-35688800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:35689000-35689200	Enhancers	HMEC	breast
48	chr2:35689200-35689600	Enhancers	GM12878-XiMat	blood
49	chr2:35689400-35689600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:35689400-35692000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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