Variant report

Variant	nsv998914
Chromosome Location	chr2:34944923-34964450
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	BHLHE40	chr2:34963851-34964109	GM12878	blood:	n/a	n/a
2	CEBPB	chr2:34960041-34960126	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr2:34963635-34964103	GM12878	blood:	n/a	n/a
4	CTCF	chr2:34963840-34963990	A549	lung:	n/a	n/a
5	CTCF	chr2:34963820-34963970	GM12873	blood:	n/a	chr2:34963821-34963828
6	CTCF	chr2:34963860-34964010	GM12878	blood:	n/a	n/a
7	CTCF	chr2:34963920-34964070	GM12871	blood:	n/a	n/a
8	CTCF	chr2:34951120-34951270	GM12872	blood:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
9	CTCF	chr2:34963780-34963930	GM12865	blood:	n/a	chr2:34963821-34963828
10	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
11	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
12	CTCF	chr2:34963740-34964030	HL-60	blood:	n/a	chr2:34963821-34963828
13	CTCF	chr2:34963880-34964030	HFF-Myc	foreskin:	n/a	n/a
14	CTCF	chr2:34963840-34963990	GM12867	blood:	n/a	n/a
15	CTCF	chr2:34963900-34964050	A549	lung:	n/a	n/a
16	CTCF	chr2:34963860-34964010	GM12869	blood:	n/a	n/a
17	CTCF	chr2:34963900-34964050	BE2_C	brain:	n/a	n/a
18	CTCF	chr2:34963918-34964004	A549	lung:	n/a	n/a
19	CTCF	chr2:34951140-34951290	MCF-7	breast:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
20	CTCF	chr2:34963860-34964010	GM12875	blood:	n/a	n/a
21	CTCF	chr2:34963860-34964010	GM12866	blood:	n/a	n/a
22	CTCF	chr2:34963860-34964010	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr2:34963880-34964030	Caco-2	colon:	n/a	n/a
24	CTCF	chr2:34963880-34964030	GM12874	blood:	n/a	n/a
25	CTCF	chr2:34951136-34951230	MCF-7	breast:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
26	CTCF	chr2:34963840-34963990	GM12874	blood:	n/a	n/a
27	CTCF	chr2:34963860-34964010	GM06990	blood:	n/a	n/a
28	CTCF	chr2:34960349-34960401	GM12878	blood:	n/a	n/a
29	CTCF	chr2:34964023-34964026	LNCaP	prostate:	n/a	n/a
30	CTCF	chr2:34963860-34964010	GM12868	blood:	n/a	n/a
31	CTCF	chr2:34963891-34964020	GM19239	blood:	n/a	n/a
32	CTCF	chr2:34951187-34951269	GM12878	blood:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
33	CTCF	chr2:34963784-34964024	HepG2	liver:	n/a	chr2:34963821-34963828
34	CTCF	chr2:34963880-34964030	GM12868	blood:	n/a	n/a
35	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
36	CTCF	chr2:34963900-34964050	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:34951041-34951393	GM12878	blood:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
38	CTCF	chr2:34963881-34964029	GM10266	blood:	n/a	n/a
39	CTCF	chr2:34963919-34963994	NHEK	skin:	n/a	n/a
40	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
41	CTCF	chr2:34963720-34963870	GM12864	blood:	n/a	chr2:34963821-34963828
42	CTCF	chr2:34963880-34964030	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr2:34963880-34964030	K562	blood:	n/a	n/a
44	CTCF	chr2:34963860-34964010	GM12870	blood:	n/a	n/a
45	CTCF	chr2:34963873-34964003	Gliobla	brain:	n/a	n/a
46	CTCF	chr2:34963820-34964090	MCF-7	breast:	n/a	chr2:34963821-34963828
47	CTCF	chr2:34963804-34964004	K562	blood:	n/a	chr2:34963821-34963828
48	CTCF	chr2:34951160-34951310	HRE	kidney:	n/a	chr2:34951208-34951217 chr2:34951206-34951222 chr2:34951205-34951223 chr2:34951210-34951220 chr2:34951196-34951204 chr2:34951207-34951228
49	CTCF	chr2:34963764-34964114	H1-hESC	embryonic stem cell:	n/a	chr2:34963821-34963828
50	CTCF	chr2:34963860-34964010	HEK293	kidney:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-4	chr2:34960145-34960753	ENSG00000228262.4
2	lnc-RASGRP3-4	chr2:34956433-34956605	ENSG00000228262.4
3	lnc-RASGRP3-4	chr2:34957515-34957624	ENSG00000228262.4
4	lnc-RASGRP3-4	chr2:34957515-34957624	ENSG00000228262
5	lnc-RASGRP3-4	chr2:34947066-34947186	ENSG00000228262.4
6	lnc-RASGRP3-4	chr2:34962388-34963298	ENSG00000228262
7	lnc-RASGRP3-4	chr2:34962388-34962638	ENSG00000228262.4
8	lnc-FAM98A-2	chr2:34960042-34960174	ENSG00000232153
9	lnc-RASGRP3-4	chr2:34947066-34947188	ENSG00000228262.4
10	lnc-FAM98A-2	chr2:34962148-34962185	ENSG00000232153
11	lnc-RASGRP3-4	chr2:34959627-34961285	NONHSAT070048
12	lnc-RASGRP3-4	chr2:34947066-34950118	NONHSAT070045
13	lnc-RASGRP3-4	chr2:34962172-34963510	NONHSAT070051
14	lnc-RASGRP3-4	chr2:34962388-34962644	ENSG00000228262.4
15	lnc-RASGRP3-4	chr2:34947066-34947580	ENSG00000228262.4
16	lnc-RASGRP3-4	chr2:34962148-34962183	NONHSAT070048

Variant related genes	Relation type
ENSG00000232153	TF binding region
ENSG00000228262	TF binding region

Extended variants
information (count: 913 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:913 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1609537	chr2:34944923-34944924	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529727433	chr2:34944933-34944934	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs560168081	chr2:34944937-34944938	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs1610285	chr2:34944960-34944961	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs542422934	chr2:34944975-34944976	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs145638608	chr2:34944978-34944979	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs569790501	chr2:34944979-34944980	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551257266	chr2:34944984-34944985	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs115542783	chr2:34945004-34945005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533362719	chr2:34945041-34945042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189115868	chr2:34945042-34945043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546808116	chr2:34945075-34945076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566942540	chr2:34945116-34945117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535546157	chr2:34945183-34945184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1610284	chr2:34945190-34945191	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568669457	chr2:34945191-34945192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1976954	chr2:34945207-34945208	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370901741	chr2:34945234-34945235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557626835	chr2:34945235-34945236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375591169	chr2:34945325-34945326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60213906	chr2:34945340-34945341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397742023	chr2:34945342-34945343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112530525	chr2:34945343-34945344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113471371	chr2:34945346-34945347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181558878	chr2:34945356-34945357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553453286	chr2:34945359-34945360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573700138	chr2:34945370-34945371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74785401	chr2:34945410-34945411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112579677	chr2:34945449-34945450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575901286	chr2:34945462-34945463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544970378	chr2:34945468-34945469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564748421	chr2:34945545-34945546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200686729	chr2:34945555-34945556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2371557	chr2:34945557-34945558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72326485	chr2:34945558-34945559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550713856	chr2:34945571-34945572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs70940273	chr2:34945589-34945590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4016388	chr2:34945593-34945594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34894191	chr2:34945599-34945600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3856479	chr2:34945600-34945601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533400601	chr2:34945615-34945616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6706948	chr2:34945621-34945622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568646009	chr2:34945668-34945669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546989587	chr2:34945680-34945681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79978727	chr2:34945720-34945721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3856480	chr2:34945804-34945805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs6543866	chr2:34945817-34945818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568757816	chr2:34945869-34945870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537627720	chr2:34945893-34945894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556888603	chr2:34945909-34945910	Weak transcription	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:95 , 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	chr2:34939800-34952800	Weak transcription	Liver	Liver
3	chr2:34942400-34945400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:34944800-34945000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr2:34945000-34946000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:34945400-34949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:34946000-34946400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr2:34946400-34947400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:34949800-34950400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:34951200-34951400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:34951600-34954800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:34951800-34952400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:34953400-34956800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:34954200-34954400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:34954200-34954400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:34954400-34955000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:34954400-34956600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:34954400-34957600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:34954600-34954800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:34954600-34955200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:34954800-34955400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:34954800-34955400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:34954800-34956200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:34955000-34955200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:34955000-34955200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:34955000-34955200	Enhancers	Pancreas	Pancrea
27	chr2:34955000-34955400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:34955000-34955400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:34955000-34955600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:34955000-34956600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:34955200-34955400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:34955200-34959000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:34955200-34963800	Weak transcription	Pancreas	Pancrea
34	chr2:34955400-34956200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:34955400-34956400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:34955400-34956400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:34955400-34956400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:34955400-34958600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:34955600-34956000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:34955600-34956800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:34956000-34956600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:34956200-34956600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:34956200-34956600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:34956200-34956800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:34956400-34956800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr2:34956400-34956800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:34956400-34956800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr2:34956400-34956800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:34956400-34957000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:34956600-34958600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links