Variant report

Variant	nsv1003970
Chromosome Location	chr2:34956712-35013666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:181)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:181 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:34989249-34989315	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr2:34963851-34964109	GM12878	blood:	n/a	n/a
3	CEBPB	chr2:35010577-35010790	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:35003237-35003348	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:34960041-34960126	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr2:34963635-34964103	GM12878	blood:	n/a	n/a
7	CTCF	chr2:34963881-34964029	GM10266	blood:	n/a	n/a
8	CTCF	chr2:34963919-34964028	GM20000	blood:	n/a	n/a
9	CTCF	chr2:34963891-34964020	GM19239	blood:	n/a	n/a
10	CTCF	chr2:34963882-34964032	MCF-7	breast:	n/a	n/a
11	CTCF	chr2:34994992-34995048	GM20000	blood:	n/a	n/a
12	CTCF	chr2:34963860-34964010	GM12875	blood:	n/a	n/a
13	CTCF	chr2:34963880-34964030	HFF-Myc	foreskin:	n/a	n/a
14	CTCF	chr2:34963880-34964030	GM12873	blood:	n/a	n/a
15	CTCF	chr2:34963860-34964010	GM12871	blood:	n/a	n/a
16	CTCF	chr2:34963960-34964110	HAc	cerebellar:	n/a	n/a
17	CTCF	chr2:34963840-34963990	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr2:34963740-34963990	GM12865	blood:	n/a	chr2:34963821-34963828
19	CTCF	chr2:34963880-34964030	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr2:34963888-34964029	GM19238	blood:	n/a	n/a
21	CTCF	chr2:34963860-34964010	HepG2	liver:	n/a	n/a
22	CTCF	chr2:34963861-34964038	HepG2	liver:	n/a	n/a
23	CTCF	chr2:34963920-34964018	GM10248	blood:	n/a	n/a
24	CTCF	chr2:34963827-34964079	GM12878	blood:	n/a	n/a
25	CTCF	chr2:34963880-34964030	GM12868	blood:	n/a	n/a
26	CTCF	chr2:34963840-34963990	A549	lung:	n/a	n/a
27	CTCF	chr2:34963880-34964030	K562	blood:	n/a	n/a
28	CTCF	chr2:34963804-34964004	K562	blood:	n/a	chr2:34963821-34963828
29	CTCF	chr2:34963840-34963990	HMF	breast:	n/a	n/a
30	CTCF	chr2:34963918-34964004	A549	lung:	n/a	n/a
31	CTCF	chr2:34963860-34964010	GM12865	blood:	n/a	n/a
32	CTCF	chr2:34963920-34964070	GM12871	blood:	n/a	n/a
33	CTCF	chr2:34963840-34963990	GM12867	blood:	n/a	n/a
34	CTCF	chr2:34963820-34963970	GM12873	blood:	n/a	chr2:34963821-34963828
35	CTCF	chr2:34963860-34964010	GM12870	blood:	n/a	n/a
36	CTCF	chr2:34963784-34964024	HepG2	liver:	n/a	chr2:34963821-34963828
37	CTCF	chr2:34963880-34964030	NB4	blood:	n/a	n/a
38	CTCF	chr2:34963853-34964041	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:34964040-34964190	HPF	lung:	n/a	n/a
40	CTCF	chr2:34963884-34964016	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr2:34963860-34964010	GM12866	blood:	n/a	n/a
42	CTCF	chr2:34963861-34964092	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr2:34963860-34964010	GM12869	blood:	n/a	n/a
44	CTCF	chr2:34963870-34964018	LNCaP	prostate:	n/a	n/a
45	CTCF	chr2:34964023-34964026	LNCaP	prostate:	n/a	n/a
46	CTCF	chr2:34963880-34964030	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr2:34963880-34964030	GM06990	blood:	n/a	n/a
48	CTCF	chr2:34963873-34964032	GM13977	blood:	n/a	n/a
49	CTCF	chr2:34963860-34964010	HMF	breast:	n/a	n/a
50	CTCF	chr2:34963880-34964030	Caco-2	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
2	chr2:35006274..35008792-chr8:67342394..67345182,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-4	chr2:34978401-34978447	NONHSAT070051
2	lnc-RASGRP3-4	chr2:34962172-34963510	NONHSAT070051
3	lnc-RASGRP3-4	chr2:34962388-34963298	ENSG00000228262
4	lnc-RASGRP3-4	chr2:34962148-34962183	NONHSAT070048
5	lnc-RASGRP3-4	chr2:34957515-34957624	ENSG00000228262.4
6	lnc-RASGRP3-4	chr2:34959627-34961285	NONHSAT070048
7	lnc-FAM98A-2	chr2:34960042-34960174	ENSG00000232153
8	lnc-RASGRP3-4	chr2:34962388-34962644	ENSG00000228262.4
9	lnc-RASGRP3-4	chr2:34962388-34962638	ENSG00000228262.4
10	lnc-RASGRP3-4	chr2:34957515-34957624	ENSG00000228262
11	lnc-RASGRP3-4	chr2:34960145-34960753	ENSG00000228262.4
12	lnc-FAM98A-2	chr2:34962148-34962185	ENSG00000232153

No data

Variant related genes	Relation type
ENSG00000232153	TF binding region
ENSG00000228262	TF binding region
ENSG00000147576	chromatin interactions

Extended variants
information (count: 1110 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1110 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369101083	chr2:34956720-34956721	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs571211694	chr2:34956731-34956732	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs533922139	chr2:34956765-34956766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201102629	chr2:34956780-34956781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531131193	chr2:34956781-34956782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397777801	chr2:34956782-34956783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11903169	chr2:34956783-34956784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59232319	chr2:34956794-34956795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183158765	chr2:34956821-34956822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567105078	chr2:34957005-34957006	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs571264861	chr2:34957009-34957010	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs185195175	chr2:34957084-34957085	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs555901171	chr2:34957121-34957122	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs575852905	chr2:34957144-34957145	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs189710568	chr2:34957147-34957148	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs550913434	chr2:34957159-34957160	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs557909119	chr2:34957164-34957165	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs3108106	chr2:34957180-34957181	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540358141	chr2:34957204-34957205	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565603127	chr2:34957218-34957219	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs560226900	chr2:34957221-34957222	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs78015180	chr2:34957245-34957246	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542414369	chr2:34957246-34957247	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs562661447	chr2:34957249-34957250	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs200856774	chr2:34957268-34957269	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs10645482	chr2:34957269-34957270	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs531547591	chr2:34957270-34957271	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs200955164	chr2:34957271-34957272	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs115816531	chr2:34957291-34957292	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs6704988	chr2:34957293-34957294	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs200191205	chr2:34957315-34957316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59888971	chr2:34957342-34957343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547382834	chr2:34957363-34957364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567391928	chr2:34957409-34957410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529768727	chr2:34957434-34957435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549322835	chr2:34957481-34957482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148515200	chr2:34957497-34957498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3108104	chr2:34957512-34957513	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs3108103	chr2:34957552-34957553	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs115233497	chr2:34957561-34957562	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs533951918	chr2:34957578-34957579	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs553702027	chr2:34957584-34957585	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs6543867	chr2:34957594-34957595	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112948902	chr2:34957601-34957602	Enhancers Weak transcription ZNF genes & repeats Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs182371140	chr2:34957616-34957617	Enhancers Weak transcription ZNF genes & repeats Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs188307417	chr2:34957617-34957618	Enhancers Weak transcription ZNF genes & repeats Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs192591954	chr2:34957624-34957625	Enhancers Weak transcription ZNF genes & repeats Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs565200414	chr2:34957641-34957642	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs527556376	chr2:34957651-34957652	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs376289006	chr2:34957661-34957662	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34926400-34957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:34953400-34956800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:34954400-34957600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:34955200-34959000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:34955200-34963800	Weak transcription	Pancreas	Pancrea
6	chr2:34955400-34958600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:34955600-34956800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:34956200-34956800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:34956400-34956800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:34956400-34956800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:34956400-34956800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:34956400-34956800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:34956400-34957000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:34956600-34958600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:34956600-34958600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:34956600-34959000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:34956800-34957600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:34956800-34958400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:34956800-34958600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:34956800-34958800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:34956800-34959000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:34956800-34961200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:34957000-34957400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:34957400-34960000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:34957600-34957800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:34957600-34957800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:34957600-34957800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:34957600-34958000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:34957800-34959000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:34958000-34958200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:34958200-34959800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:34958400-34960800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:34958600-34958800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:34958600-34960000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:34958600-34961400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:34958600-34961400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:34958800-34959200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:34958800-34961400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:34959000-34959600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:34959000-34960200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:34959000-34960600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:34959000-34961000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:34959200-34960000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:34959600-34960400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:34960000-34960200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr2:34960000-34960400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr2:34960200-34960400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr2:34960200-34960400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:34960400-34960600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr2:34960400-34961000	Enhancers	HUES48 Cell Line	embryonic stem cell

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