Variant report

Variant	nsv873829
Chromosome Location	chr2:34928080-35022419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr2:34930671-34930923	GM12878	blood:	n/a	n/a
3	BHLHE40	chr2:34963851-34964109	GM12878	blood:	n/a	n/a
4	CEBPB	chr2:35003237-35003348	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:35010577-35010790	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:34960041-34960126	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr2:34931219-34931422	HepG2	liver:	n/a	chr2:34931302-34931313
8	CHD2	chr2:34963635-34964103	GM12878	blood:	n/a	n/a
9	CTCF	chr2:34963860-34964010	GM12869	blood:	n/a	n/a
10	CTCF	chr2:34963840-34963990	HMF	breast:	n/a	n/a
11	CTCF	chr2:34963880-34964030	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr2:34963873-34964003	Gliobla	brain:	n/a	n/a
13	CTCF	chr2:34963960-34964110	HAc	cerebellar:	n/a	n/a
14	CTCF	chr2:34963860-34964010	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr2:34963853-34964041	MCF-7	breast:	n/a	n/a
16	CTCF	chr2:34963804-34964004	K562	blood:	n/a	chr2:34963821-34963828
17	CTCF	chr2:34963827-34964079	GM12878	blood:	n/a	n/a
18	CTCF	chr2:34944356-34944490	HepG2	liver:	n/a	n/a
19	CTCF	chr2:34963880-34964030	GM06990	blood:	n/a	n/a
20	CTCF	chr2:34963860-34964010	HMF	breast:	n/a	n/a
21	CTCF	chr2:34964023-34964026	LNCaP	prostate:	n/a	n/a
22	CTCF	chr2:34963880-34964031	Medullo	brain:	n/a	n/a
23	CTCF	chr2:34963891-34964020	GM19239	blood:	n/a	n/a
24	CTCF	chr2:34963860-34964010	GM12873	blood:	n/a	n/a
25	CTCF	chr2:34963840-34963990	A549	lung:	n/a	n/a
26	CTCF	chr2:34963861-34964092	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr2:34951141-34951243	HepG2	liver:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
28	CTCF	chr2:34944385-34944443	HepG2	liver:	n/a	n/a
29	CTCF	chr2:34951160-34951310	BE2_C	brain:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
30	CTCF	chr2:34963840-34963990	BE2_C	brain:	n/a	n/a
31	CTCF	chr2:34951100-34951250	BE2_C	brain:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
32	CTCF	chr2:34951110-34951268	MCF-7	breast:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
33	CTCF	chr2:34963860-34964010	GM12871	blood:	n/a	n/a
34	CTCF	chr2:34964040-34964190	HPF	lung:	n/a	n/a
35	CTCF	chr2:34963860-34964010	GM12865	blood:	n/a	n/a
36	CTCF	chr2:34963880-34964030	GM12872	blood:	n/a	n/a
37	CTCF	chr2:34963721-34964239	GM12878	blood:	n/a	chr2:34963821-34963828
38	CTCF	chr2:34933260-34933330	GM10266	blood:	n/a	n/a
39	CTCF	chr2:34963860-34964010	RPTEC	kidney:	n/a	n/a
40	CTCF	chr2:34963882-34964032	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:34963880-34964030	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr2:34951193-34951256	Pancreas_OC	pancreas:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
43	CTCF	chr2:34963860-34964010	HRE	kidney:	n/a	n/a
44	CTCF	chr2:34951100-34951250	GM12874	blood:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
45	CTCF	chr2:34951080-34951409	MCF-7	breast:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
46	CTCF	chr2:34963840-34963990	RPTEC	kidney:	n/a	n/a
47	CTCF	chr2:34963898-34964001	LNCaP	prostate:	n/a	n/a
48	CTCF	chr2:34951100-34951250	GM12872	blood:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
49	CTCF	chr2:34963880-34964030	HepG2	liver:	n/a	n/a
50	CTCF	chr2:34963764-34964114	H1-hESC	embryonic stem cell:	n/a	chr2:34963821-34963828

No.	Distal block	Cell Line	Cell type
1	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:
2	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:
3	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
4	chr2:35006274..35008792-chr8:67342394..67345182,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-4	chr2:34935519-34935571	NONHSAT070044
2	lnc-RASGRP3-4	chr2:34960145-34960753	ENSG00000228262.4
3	lnc-RASGRP3-4	chr2:34947066-34947186	ENSG00000228262.4
4	lnc-FAM98A-2	chr2:34962148-34962185	ENSG00000232153
5	lnc-RASGRP3-4	chr2:34935519-34935580	ENSG00000228262.4
6	lnc-RASGRP3-4	chr2:34959627-34961285	NONHSAT070048
7	lnc-RASGRP3-4	chr2:34947066-34947580	ENSG00000228262.4
8	lnc-RASGRP3-4	chr2:34956433-34956605	ENSG00000228262.4
9	lnc-RASGRP3-4	chr2:34938657-34938840	ENSG00000228262
10	lnc-RASGRP3-4	chr2:34935518-34935580	NONHSAT070045
11	lnc-FAM98A-2	chr2:34960042-34960174	ENSG00000232153
12	lnc-RASGRP3-4	chr2:34957515-34957624	ENSG00000228262.4
13	lnc-RASGRP3-4	chr2:34962388-34962638	ENSG00000228262.4
14	lnc-RASGRP3-4	chr2:34962388-34962644	ENSG00000228262.4
15	lnc-RASGRP3-4	chr2:34957515-34957624	ENSG00000228262
16	lnc-RASGRP3-4	chr2:34962148-34962183	NONHSAT070048
17	lnc-RASGRP3-4	chr2:34947066-34947188	ENSG00000228262.4
18	lnc-RASGRP3-4	chr2:34938657-34938840	ENSG00000228262.4
19	lnc-RASGRP3-4	chr2:34962388-34963298	ENSG00000228262
20	lnc-RASGRP3-4	chr2:34978401-34978447	NONHSAT070051
21	lnc-RASGRP3-4	chr2:34929778-34929989	ENSG00000228262.4
22	lnc-RASGRP3-4	chr2:34938646-34938840	ENSG00000228262.4
23	lnc-RASGRP3-4	chr2:34938646-34938840	ENSG00000228262.4
24	lnc-RASGRP3-4	chr2:34947066-34950118	NONHSAT070045
25	lnc-RASGRP3-4	chr2:34938646-34938840	NONHSAT070045
26	lnc-RASGRP3-4	chr2:34962172-34963510	NONHSAT070051

Variant related genes	Relation type
ENSG00000272027	TF binding region
ENSG00000232153	TF binding region
ENSG00000228262	TF binding region
ENSG00000226994	TF binding region
ENSG00000228262	chromatin interactions
ENSG00000147576	chromatin interactions

Extended variants
information (count: 2897 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2897 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10201571	chr2:34928080-34928081	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527682375	chr2:34928178-34928179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182621440	chr2:34928203-34928204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs398080160	chr2:34928205-34928206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576562144	chr2:34928228-34928229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12991617	chr2:34928229-34928230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564409463	chr2:34928254-34928255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533273416	chr2:34928261-34928262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546550635	chr2:34928291-34928292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11691404	chr2:34928338-34928339	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187615248	chr2:34928384-34928385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549104644	chr2:34928391-34928392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568610157	chr2:34928442-34928443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72864749	chr2:34928465-34928466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150649053	chr2:34928469-34928470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546954254	chr2:34928499-34928500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540144861	chr2:34928500-34928501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545768199	chr2:34928502-34928503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553344247	chr2:34928553-34928554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140701244	chr2:34928565-34928566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541848276	chr2:34928591-34928592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564272667	chr2:34928639-34928640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572965352	chr2:34928680-34928681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540846694	chr2:34928689-34928690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555942976	chr2:34928705-34928706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575793440	chr2:34928711-34928712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544685370	chr2:34928761-34928762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192150625	chr2:34928773-34928774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183546866	chr2:34928782-34928783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144630596	chr2:34928786-34928787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560181571	chr2:34928840-34928841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528930672	chr2:34928844-34928845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548550271	chr2:34928845-34928846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568643026	chr2:34928861-34928862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531318576	chr2:34928880-34928881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13423237	chr2:34928957-34928958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs571025933	chr2:34928974-34928975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147528368	chr2:34929016-34929017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553669752	chr2:34929026-34929027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189102487	chr2:34929044-34929045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535868922	chr2:34929049-34929050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555814268	chr2:34929078-34929079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs575682050	chr2:34929108-34929109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548507332	chr2:34929116-34929117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544722273	chr2:34929122-34929123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs193014464	chr2:34929148-34929149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577812154	chr2:34929165-34929166	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs151203547	chr2:34929181-34929182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370303414	chr2:34929194-34929195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs17015528	chr2:34929234-34929235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34926400-34957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:34927800-34928200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr2:34927800-34928200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:34927800-34928400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:34927800-34928400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:34927800-34928400	Enhancers	Pancreas	Pancrea
7	chr2:34928000-34928800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:34928200-34929200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:34928200-34929400	Enhancers	Liver	Liver
10	chr2:34929200-34931000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:34929400-34930400	Weak transcription	Liver	Liver
12	chr2:34930400-34930800	Active TSS	Liver	Liver
13	chr2:34930800-34931400	Flanking Active TSS	Liver	Liver
14	chr2:34931000-34931400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:34931400-34931800	Enhancers	Liver	Liver
16	chr2:34931800-34932200	Weak transcription	Liver	Liver
17	chr2:34932200-34932400	Enhancers	Liver	Liver
18	chr2:34932400-34939000	Weak transcription	Liver	Liver
19	chr2:34939000-34939800	Strong transcription	Liver	Liver
20	chr2:34939800-34952800	Weak transcription	Liver	Liver
21	chr2:34941000-34942400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:34942400-34945400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:34942600-34944400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:34942800-34943600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:34942800-34944400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:34943000-34944400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:34943200-34944000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:34943800-34944200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:34944000-34944800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:34944800-34945000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr2:34945000-34946000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:34945400-34949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:34946000-34946400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr2:34946400-34947400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:34949800-34950400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:34951200-34951400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:34951600-34954800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:34951800-34952400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:34953400-34956800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:34954200-34954400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:34954200-34954400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:34954400-34955000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:34954400-34956600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:34954400-34957600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:34954600-34954800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:34954600-34955200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:34954800-34955400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr2:34954800-34955400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:34954800-34956200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:34955000-34955200	Enhancers	H9 Cell Line	embryonic stem cell

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