Variant report

Variant	nsv1014577
Chromosome Location	chr2:35672382-35714924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:215)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:215 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:35686874-35687275	MCF-7	breast:	n/a	n/a
2	CEBPB	chr2:35674694-35675078	MCF-7	breast:	n/a	n/a
3	CEBPB	chr2:35695683-35695686	HepG2	liver:	n/a	n/a
4	CTCF	chr2:35680180-35680330	HA-sp	spinal cord:	n/a	n/a
5	CTCF	chr2:35703280-35703430	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:35703275-35703482	MCF-7	breast:	n/a	n/a
7	CTCF	chr2:35703320-35703470	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr2:35680163-35680274	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr2:35680160-35680310	GM12866	blood:	n/a	n/a
10	CTCF	chr2:35680160-35680310	GM12875	blood:	n/a	n/a
11	CTCF	chr2:35703680-35703796	GM10248	blood:	n/a	n/a
12	CTCF	chr2:35680140-35680290	HEK293	kidney:	n/a	n/a
13	CTCF	chr2:35680181-35680294	GM19238	blood:	n/a	n/a
14	CTCF	chr2:35680190-35680261	GM10266	blood:	n/a	n/a
15	CTCF	chr2:35680140-35680290	GM12868	blood:	n/a	n/a
16	CTCF	chr2:35680160-35680310	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:35680197-35680268	GM19239	blood:	n/a	n/a
18	CTCF	chr2:35680140-35680290	GM12875	blood:	n/a	n/a
19	CTCF	chr2:35680116-35680358	A549	lung:	n/a	n/a
20	CTCF	chr2:35703754-35703821	LNCaP	prostate:	n/a	n/a
21	CTCF	chr2:35680140-35680290	GM12874	blood:	n/a	n/a
22	CTCF	chr2:35680120-35680270	GM12878	blood:	n/a	n/a
23	CTCF	chr2:35680020-35680170	GM12872	blood:	n/a	n/a
24	CTCF	chr2:35680060-35680210	HCT-116	colon:	n/a	n/a
25	CTCF	chr2:35680100-35680250	RPTEC	kidney:	n/a	n/a
26	CTCF	chr2:35703282-35703442	Gliobla	brain:	n/a	n/a
27	CTCF	chr2:35680120-35680270	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr2:35680153-35680275	GM10248	blood:	n/a	n/a
29	CTCF	chr2:35680100-35680250	HAc	cerebellar:	n/a	n/a
30	CTCF	chr2:35680140-35680290	RPTEC	kidney:	n/a	n/a
31	CTCF	chr2:35680160-35680310	GM12864	blood:	n/a	n/a
32	CTCF	chr2:35703370-35703407	GM12878	blood:	n/a	n/a
33	CTCF	chr2:35680160-35680310	GM12873	blood:	n/a	n/a
34	CTCF	chr2:35680080-35680230	GM12871	blood:	n/a	n/a
35	CTCF	chr2:35703290-35703421	A549	lung:	n/a	n/a
36	CTCF	chr2:35680142-35680328	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:35680140-35680290	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr2:35680160-35680310	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr2:35680160-35680310	GM12872	blood:	n/a	n/a
40	CTCF	chr2:35680112-35680387	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr2:35680131-35680326	MCF-7	breast:	n/a	n/a
42	CTCF	chr2:35703347-35703422	GM19238	blood:	n/a	n/a
43	CTCF	chr2:35680160-35680310	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr2:35680140-35680290	GM12864	blood:	n/a	n/a
45	CTCF	chr2:35703294-35703415	GM12891	blood:	n/a	n/a
46	CTCF	chr2:35680079-35680430	Gliobla	brain:	n/a	n/a
47	CTCF	chr2:35680147-35680302	NHEK	skin:	n/a	n/a
48	CTCF	chr2:35703256-35703470	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:35680177-35680290	GM12892	blood:	n/a	n/a
50	CTCF	chr2:35680160-35680310	Caco-2	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:35696604..35698364-chr2:35701530..35703785,2	MCF-7	breast:
2	chr2:35694136..35697118-chr2:35710618..35713142,3	MCF-7	breast:
3	chr2:35685603..35687345-chr2:35690892..35693607,2	K562	blood:
4	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
MIR548AD	TF binding region
ENSG00000229013	TF binding region
RNU6-1117P	TF binding region
ENSG00000207255	chromatin interactions
ENSG00000265301	chromatin interactions
ENSG00000229013	chromatin interactions

Extended variants
information (count: 1546 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1546 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2714587	chr2:35672382-35672383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551162345	chr2:35672383-35672384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190788002	chr2:35672535-35672536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111682411	chr2:35672543-35672544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6735007	chr2:35672564-35672565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533460540	chr2:35672606-35672607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546718115	chr2:35672613-35672614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371464684	chr2:35672715-35672716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181491635	chr2:35672746-35672747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554720793	chr2:35672750-35672751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535435012	chr2:35672755-35672756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549278489	chr2:35672759-35672760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185382497	chr2:35672765-35672766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189444499	chr2:35672786-35672787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537682609	chr2:35672813-35672814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573804673	chr2:35672822-35672823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150551783	chr2:35672849-35672850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533879398	chr2:35672854-35672855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6735463	chr2:35672878-35672879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs28498497	chr2:35672885-35672886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542231120	chr2:35672900-35672901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181246459	chr2:35672919-35672920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562421741	chr2:35672921-35672922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575993668	chr2:35672929-35672930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115128861	chr2:35672960-35672961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185817944	chr2:35672975-35672976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533036768	chr2:35673019-35673020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533524204	chr2:35673023-35673024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372864330	chr2:35673033-35673034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549407465	chr2:35673050-35673051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77351940	chr2:35673063-35673064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560356222	chr2:35673078-35673079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13397054	chr2:35673080-35673081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188280437	chr2:35673085-35673086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6753443	chr2:35673093-35673094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537743371	chr2:35673108-35673109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551205196	chr2:35673170-35673171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572845344	chr2:35673183-35673184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571121085	chr2:35673191-35673192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75875628	chr2:35673223-35673224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181047003	chr2:35673230-35673231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553856244	chr2:35673287-35673288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549082377	chr2:35673299-35673300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150252316	chr2:35673300-35673301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386644774	chr2:35673301-35673302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573620585	chr2:35673302-35673303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567572019	chr2:35673347-35673348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71393190	chr2:35673357-35673358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370279036	chr2:35673358-35673359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570387363	chr2:35673359-35673360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:60 , 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	chr2:35670400-35672600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:35671400-35673200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:35671600-35672800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr2:35671600-35673600	Enhancers	Dnd41	blood
6	chr2:35672400-35672800	Enhancers	Fetal Stomach	stomach
7	chr2:35672400-35673000	Enhancers	HSMMtube	muscle
8	chr2:35672600-35673000	Enhancers	Fetal Muscle Leg	muscle
9	chr2:35672600-35673200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:35673200-35674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:35674600-35674800	Enhancers	Fetal Stomach	stomach
12	chr2:35674600-35675800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:35675600-35676400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:35675800-35676800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:35676800-35677000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:35677000-35677400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:35677400-35678600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:35678600-35679400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:35679200-35680000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:35679400-35680000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:35679400-35680400	Enhancers	HMEC	breast
22	chr2:35680000-35687400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:35680200-35680600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:35680200-35680600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:35680200-35680800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:35686600-35687400	Enhancers	NH-A	brain
27	chr2:35686600-35689000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:35686600-35689600	Enhancers	HSMM	muscle
29	chr2:35687200-35687400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:35687400-35687800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:35687400-35687800	Enhancers	HSMMtube	muscle
32	chr2:35687400-35687800	Flanking Active TSS	NH-A	brain
33	chr2:35687400-35687800	Enhancers	NHLF	lung
34	chr2:35687400-35688200	Enhancers	Fetal Brain Male	brain
35	chr2:35687400-35688400	Enhancers	HMEC	breast
36	chr2:35687600-35688800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:35687600-35689200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:35687800-35688200	Weak transcription	NHLF	lung
39	chr2:35687800-35689600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:35687800-35689600	Enhancers	NH-A	brain
41	chr2:35688200-35688800	Enhancers	NHLF	lung
42	chr2:35688400-35689000	Weak transcription	HMEC	breast
43	chr2:35688600-35688800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:35689000-35689200	Enhancers	HMEC	breast
45	chr2:35689200-35689600	Enhancers	GM12878-XiMat	blood
46	chr2:35689400-35689600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:35689400-35692000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr2:35689600-35693400	Weak transcription	NH-A	brain
49	chr2:35691400-35693000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:35693000-35693800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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