Variant report

Variant	nsv874483
Chromosome Location	chr2:87306827-87432615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:491)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:87411594-87412112	GM12878	blood:	n/a	n/a
2	BATF	chr2:87359765-87360029	GM12878	blood:	n/a	n/a
3	BATF	chr2:87355904-87356145	GM12878	blood:	n/a	n/a
4	BATF	chr2:87355800-87356278	GM12878	blood:	n/a	n/a
5	BATF	chr2:87378985-87379249	GM12878	blood:	n/a	n/a
6	BATF	chr2:87359687-87360006	GM12878	blood:	n/a	n/a
7	BCL11A	chr2:87420480-87420775	GM12878	blood:	n/a	n/a
8	BCL11A	chr2:87359754-87359999	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:87359630-87360025	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:87359379-87359570	GM12878	blood:	n/a	n/a
11	BHLHE40	chr2:87379611-87379849	HepG2	liver:	n/a	n/a
12	BHLHE40	chr2:87423618-87423819	HepG2	liver:	n/a	n/a
13	CBX3	chr2:87313277-87313606	K562	blood:	n/a	n/a
14	CBX3	chr2:87429710-87430365	K562	blood:	n/a	n/a
15	CBX3	chr2:87429769-87430349	K562	blood:	n/a	n/a
16	CBX3	chr2:87313232-87313648	K562	blood:	n/a	n/a
17	CEBPB	chr2:87411390-87411768	A549	lung:	n/a	chr2:87411574-87411585
18	CEBPB	chr2:87411396-87411767	H1-hESC	embryonic stem cell:	n/a	chr2:87411574-87411585
19	CEBPB	chr2:87411391-87411763	Hela-S3	cervix:	n/a	chr2:87411574-87411585
20	CEBPB	chr2:87310975-87311245	K562	blood:	n/a	n/a
21	CEBPB	chr2:87411390-87411766	K562	blood:	n/a	chr2:87411574-87411585
22	CEBPB	chr2:87411390-87411768	HepG2	liver:	n/a	chr2:87411574-87411585
23	CEBPB	chr2:87411391-87411768	IMR90	lung:	n/a	chr2:87411574-87411585
24	CEBPB	chr2:87411500-87411623	HepG2	liver:	n/a	chr2:87411574-87411585
25	CTCF	chr2:87420544-87420811	LNCaP	prostate:	n/a	n/a
26	CTCF	chr2:87420620-87420770	HEK293	kidney:	n/a	n/a
27	CTCF	chr2:87333320-87333470	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr2:87379036-87379228	GM20000	blood:	n/a	n/a
29	CTCF	chr2:87420574-87420763	GM10248	blood:	n/a	n/a
30	CTCF	chr2:87420620-87420770	GM12864	blood:	n/a	n/a
31	CTCF	chr2:87420528-87420745	Fibrobl	skin:	n/a	n/a
32	CTCF	chr2:87420545-87420781	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr2:87379050-87379268	Lung_OC	lung:	n/a	n/a
34	CTCF	chr2:87420640-87420790	A549	lung:	n/a	n/a
35	CTCF	chr2:87420640-87420790	MCF-7	breast:	n/a	n/a
36	CTCF	chr2:87420515-87420732	GM12891	blood:	n/a	n/a
37	CTCF	chr2:87368317-87368415	GM13976	blood:	n/a	n/a
38	CTCF	chr2:87379046-87379269	LNCaP	prostate:	n/a	n/a
39	CTCF	chr2:87420519-87420744	GM12892	blood:	n/a	n/a
40	CTCF	chr2:87420520-87420788	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:87331363-87331397	GM20000	blood:	n/a	n/a
42	CTCF	chr2:87338066-87338136	Lung_OC	lung:	n/a	n/a
43	CTCF	chr2:87427827-87427884	LNCaP	prostate:	n/a	n/a
44	CTCF	chr2:87424798-87424936	LNCaP	prostate:	n/a	chr2:87424799-87424807
45	CTCF	chr2:87378839-87378859	GM10248	blood:	n/a	n/a
46	CTCF	chr2:87378905-87379382	A549	lung:	n/a	n/a
47	CTCF	chr2:87420620-87420770	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr2:87420517-87420740	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr2:87319860-87320010	GM12865	blood:	n/a	n/a
50	CTCF	chr2:87420620-87420770	HMEC	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:87308486-87308536	NT2-D1	testis:	n/a
2	chr2:87420273-87420323	A549	lung:	n/a
3	chr2:87308486-87308536	AG04449	skin:	fetal
4	chr2:87308486-87308536	NB4	blood:	n/a
5	chr2:87420273-87420323	HAEpiC	amniotic membrane:	n/a
6	chr2:87420273-87420323	HEK293	kidney:	embryo
7	chr2:87420273-87420323	PrEC	prostate:	n/a
8	chr2:87308486-87308536	HMEC	breast:	n/a
9	chr2:87420273-87420323	Jurkat	blood:	n/a
10	chr2:87420273-87420323	NH-A	brain:	n/a
11	chr2:87308486-87308536	SKMC	muscle:	n/a
12	chr2:87420273-87420323	ovcar-3	ovarian:	n/a
13	chr2:87420273-87420323	Hepatocyte	liver:	n/a
14	chr2:87420273-87420323	NT2-D1	testis:	n/a
15	chr2:87308486-87308536	GM12892	blood:	n/a
16	chr2:87420273-87420323	PANC-1	pancreas:	n/a
17	chr2:87308486-87308536	Jurkat	blood:	n/a
18	chr2:87308486-87308536	NH-A	brain:	n/a
19	chr2:87420273-87420323	GM12892	blood:	n/a
20	chr2:87420273-87420323	GM06990	blood:	n/a
21	chr2:87308486-87308536	HEEpiC	esophagus:	n/a
22	chr2:87308486-87308536	PANC-1	pancreas:	n/a
23	chr2:87420273-87420323	SKMC	muscle:	n/a
24	chr2:87420273-87420323	T-47D	breast:	n/a
25	chr2:87308486-87308536	HEK293	kidney:	embryo
26	chr2:87420273-87420323	H1-hESC	embryonic stem cell:	embryo
27	chr2:87420273-87420323	AG04449	skin:	fetal
28	chr2:87420273-87420323	LNCaP	prostate:	n/a
29	chr2:87420273-87420323	SAEC	small airway:	n/a
30	chr2:87420273-87420323	MCF10A-Er-Src	breast:	n/a
31	chr2:87308486-87308536	BJ	skin:	n/a
32	chr2:87420273-87420323	GM12878	blood:	n/a
33	chr2:87308486-87308536	HIPEpiC	eye:	n/a
34	chr2:87420273-87420323	GM19239	blood:	n/a
35	chr2:87420273-87420323	HNPCEpiC	eye:	n/a
36	chr2:87308486-87308536	SAEC	small airway:	n/a
37	chr2:87308486-87308536	CMK	blood:	n/a
38	chr2:87420273-87420323	AG09319	gingival:	n/a
39	chr2:87420273-87420323	IMR90	lung:	fetal
40	chr2:87420273-87420323	HIPEpiC	eye:	n/a
41	chr2:87420273-87420323	AoSMC	blood vessel:	n/a
42	chr2:87420273-87420323	HRE	kidney:	n/a
43	chr2:87420273-87420323	RPTEC	kidney:	n/a
44	chr2:87308486-87308536	HRCEpiC	kidney:	n/a
45	chr2:87308486-87308536	GM06990	blood:	n/a
46	chr2:87308486-87308536	HPAEpiC	pulmonary alveolar:	n/a
47	chr2:87308486-87308536	SK-N-MC	brain:	n/a
48	chr2:87308486-87308536	AoSMC	blood vessel:	n/a
49	chr2:87420273-87420323	U87	brain:	n/a
50	chr2:87420273-87420323	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:87431267..87434250-chr2:112516766..112518517,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLGLB1-3	chr2:87403979-87404208	l_1879_chr2:87403978-87405069_thyroid
2	lnc-PLGLB1-3	chr2:87404223-87404330	l_1879_chr2:87403978-87405069_thyroid
3	lnc-PLGLB1-3	chr2:87405044-87405069	l_1879_chr2:87403978-87405069_thyroid

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4771	chr2:87421953-87421973	MIMAT0019925

No data

Variant related genes	Relation type
MIR4771-2	TF binding region
ENSG00000231259	TF binding region
ENSG00000230395	TF binding region
ENSG00000204745	TF binding region
MIR4771-2	CpG island
ENSG00000231259	CpG island
ENSG00000230395	CpG island
ENSG00000204745	CpG island

Extended variants
information (count: 556 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561984927	chr2:87306841-87306842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376342324	chr2:87306852-87306853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577683483	chr2:87306918-87306919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547548950	chr2:87306922-87306923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62144418	chr2:87306947-87306948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs533050316	chr2:87307022-87307023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528700858	chr2:87307087-87307088	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2612935	chr2:87307089-87307090	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs551449029	chr2:87307105-87307106	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs527837189	chr2:87307140-87307141	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs569690809	chr2:87307148-87307149	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs61189193	chr2:87307180-87307181	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs368213432	chr2:87307203-87307204	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs549444996	chr2:87307216-87307217	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs567924034	chr2:87307217-87307218	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs534951229	chr2:87307218-87307219	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs553519373	chr2:87307222-87307223	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs571465377	chr2:87307258-87307259	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs370350205	chr2:87307269-87307270	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs538754209	chr2:87307288-87307289	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs143486193	chr2:87307290-87307291	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs147986751	chr2:87307292-87307293	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs552502883	chr2:87307302-87307303	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201517431	chr2:87307319-87307320	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs575254085	chr2:87307379-87307380	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs542995501	chr2:87307384-87307385	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs555402868	chr2:87307422-87307423	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs573876849	chr2:87307444-87307445	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs540909549	chr2:87307533-87307534	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs559510085	chr2:87307540-87307541	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs533130898	chr2:87307655-87307656	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs374401479	chr2:87307706-87307707	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs372476666	chr2:87307719-87307720	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs545140834	chr2:87307797-87307798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199519349	chr2:87307944-87307945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563356111	chr2:87308092-87308093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530545915	chr2:87308370-87308371	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs548957226	chr2:87308456-87308457	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs567903402	chr2:87308466-87308467	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs138950085	chr2:87308486-87308487	Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs113051578	chr2:87308487-87308488	Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs546933036	chr2:87308495-87308496	Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs571530538	chr2:87308499-87308500	Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs538816357	chr2:87308504-87308505	Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs557070511	chr2:87308589-87308590	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs144718905	chr2:87308603-87308604	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs62144419	chr2:87308617-87308618	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs141820478	chr2:87308666-87308667	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs554940054	chr2:87308684-87308685	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs573116384	chr2:87308686-87308687	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87304400-87307000	Weak transcription	Fetal Intestine Large	intestine
2	chr2:87304400-87308400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:87304400-87308400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:87304400-87308400	Weak transcription	Fetal Intestine Small	intestine
5	chr2:87304400-87308400	Weak transcription	Left Ventricle	heart
6	chr2:87304800-87308400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:87304800-87308400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:87304800-87308400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:87307000-87308600	Enhancers	Fetal Intestine Large	intestine
10	chr2:87308400-87308800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:87308400-87308800	Enhancers	Fetal Heart	heart
12	chr2:87308400-87308800	Enhancers	Fetal Intestine Small	intestine
13	chr2:87308400-87308800	Enhancers	Left Ventricle	heart
14	chr2:87308400-87308800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:87308400-87308800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr2:87308400-87309000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:87308400-87309000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr2:87308800-87309000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:87316600-87321000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:87321200-87321400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:87330200-87330600	Enhancers	Fetal Heart	heart
22	chr2:87330600-87331000	Weak transcription	Fetal Heart	heart
23	chr2:87331000-87331200	Enhancers	Fetal Heart	heart
24	chr2:87331200-87332000	Weak transcription	Fetal Heart	heart
25	chr2:87332000-87332200	Enhancers	Fetal Heart	heart
26	chr2:87332200-87334200	Weak transcription	Fetal Heart	heart
27	chr2:87333000-87333400	Enhancers	Fetal Lung	lung
28	chr2:87334200-87334400	Enhancers	Fetal Heart	heart
29	chr2:87371800-87372400	Enhancers	Fetal Heart	heart
30	chr2:87373000-87374000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:87373600-87374000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr2:87373800-87374600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:87374000-87374600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:87374600-87374800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr2:87416200-87417000	Enhancers	HUVEC	blood vessel
36	chr2:87418800-87419600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:87425400-87426000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:87431600-87431800	Enhancers	Liver	Liver
39	chr2:87431800-87432200	Flanking Active TSS	Liver	Liver

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