Variant report

Variant	nsv873802
Chromosome Location	chr2:34028455-34114843
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	CEBPB	chr2:34062064-34062078	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:34047164-34047373	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:34046826-34047351	HepG2	liver:	n/a	chr2:34046985-34046996 chr2:34046985-34046998
4	CEBPB	chr2:34050115-34050323	HepG2	liver:	n/a	chr2:34050219-34050230
5	CEBPB	chr2:34074263-34074579	A549	lung:	n/a	chr2:34074408-34074419
6	CEBPB	chr2:34063300-34063564	IMR90	lung:	n/a	chr2:34063436-34063447
7	CEBPB	chr2:34093496-34093707	A549	lung:	n/a	n/a
8	CEBPB	chr2:34063261-34063570	HepG2	liver:	n/a	chr2:34063436-34063447
9	CEBPB	chr2:34074246-34074592	IMR90	lung:	n/a	chr2:34074408-34074419
10	CEBPB	chr2:34050108-34050338	A549	lung:	n/a	chr2:34050219-34050230
11	CEBPB	chr2:34073519-34074040	IMR90	lung:	n/a	n/a
12	CEBPB	chr2:34090949-34090976	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr2:34062049-34062067	A549	lung:	n/a	n/a
14	CEBPB	chr2:34074255-34074588	HepG2	liver:	n/a	chr2:34074408-34074419
15	CEBPB	chr2:34098418-34098628	A549	lung:	n/a	n/a
16	CEBPB	chr2:34046885-34047345	A549	lung:	n/a	chr2:34046985-34046996 chr2:34046985-34046998
17	CEBPB	chr2:34046847-34047396	IMR90	lung:	n/a	chr2:34046985-34046996 chr2:34046985-34046998
18	CEBPB	chr2:34074371-34074506	H1-hESC	embryonic stem cell:	n/a	chr2:34074408-34074419
19	CTCF	chr2:34067380-34067530	A549	lung:	n/a	n/a
20	CTCF	chr2:34045931-34045986	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr2:34045894-34046055	MCF-7	breast:	n/a	chr2:34045928-34045946
22	CTCF	chr2:34085780-34085930	MCF-7	breast:	n/a	n/a
23	CTCF	chr2:34045880-34046030	GM12864	blood:	n/a	chr2:34045928-34045946
24	CTCF	chr2:34104940-34105090	GM12864	blood:	n/a	n/a
25	CTCF	chr2:34078620-34078770	GM12872	blood:	n/a	n/a
26	CTCF	chr2:34045907-34046000	MCF-7	breast:	n/a	chr2:34045928-34045946
27	CTCF	chr2:34111900-34112050	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr2:34045869-34045872	MCF-7	breast:	n/a	n/a
29	CTCF	chr2:34057720-34057870	GM12874	blood:	n/a	n/a
30	CTCF	chr2:34067331-34067447	GM12878	blood:	n/a	n/a
31	CTCF	chr2:34103860-34104010	GM12872	blood:	n/a	n/a
32	CTCF	chr2:34085662-34085749	LNCaP	prostate:	n/a	n/a
33	CTCF	chr2:34067220-34067370	MCF-7	breast:	n/a	n/a
34	CTCF	chr2:34084463-34084530	Lung_OC	lung:	n/a	n/a
35	CTCF	chr2:34065014-34065083	Lung_OC	lung:	n/a	n/a
36	CTCF	chr2:34111945-34112072	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr2:34045840-34045990	AG09319	gingival:	n/a	chr2:34045928-34045946
38	CTCF	chr2:34067392-34067445	Gliobla	brain:	n/a	n/a
39	CTCF	chr2:34045907-34046001	Gliobla	brain:	n/a	chr2:34045928-34045946
40	CTCF	chr2:34045840-34045990	GM12875	blood:	n/a	chr2:34045928-34045946
41	CTCF	chr2:34045780-34045930	A549	lung:	n/a	n/a
42	CTCF	chr2:34085660-34085810	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:34064988-34065081	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:34045898-34045986	A549	lung:	n/a	chr2:34045928-34045946
45	CTCF	chr2:34045911-34045994	MCF-7	breast:	n/a	chr2:34045928-34045946
46	CTCF	chr2:34063595-34063608	GM13976	blood:	n/a	n/a
47	CTCF	chr2:34045911-34046001	MCF-7	breast:	n/a	chr2:34045928-34045946
48	CTCF	chr2:34067300-34067450	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:34067260-34067410	BJ	skin:	n/a	n/a
50	CTCF	chr2:34045903-34045970	GM12892	blood:	n/a	chr2:34045928-34045946

No.	Distal block	Cell Line	Cell type
1	chr11:62608939..62609489-chr2:34040620..34041120,2	Hela-S3	cervix:
2	chr2:34033415..34035422-chr2:34038221..34040306,2	MCF-7	breast:
3	chr2:34033415..34035422-chr2:34038221..34040306,2	MCF-7	breast:
4	chr2:34056369..34058032-chr2:34058034..34060009,2	K562	blood:
5	chr2:34056369..34058032-chr2:34058034..34060009,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-1	chr2:34111439-34111541	ENSG00000203386
2	lnc-RASGRP3-1	chr2:34080755-34080820	ENSG00000203386
3	lnc-RASGRP3-1	chr2:34080755-34080820	ENSG00000203386

Variant related genes	Relation type
SLC25A5P2	TF binding region
ENSG00000133316	chromatin interactions

Extended variants
information (count: 2439 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2439 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193278995	chr2:34029013-34029014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111963762	chr2:34029019-34029020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185483913	chr2:34029023-34029024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574058232	chr2:34029033-34029034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148758110	chr2:34029041-34029042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73926718	chr2:34029044-34029045	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536470039	chr2:34029049-34029050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537863020	chr2:34029098-34029099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74541221	chr2:34029102-34029103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553982448	chr2:34029113-34029114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575680063	chr2:34029165-34029166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544314796	chr2:34029197-34029198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544593079	chr2:34029198-34029199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376838073	chr2:34029239-34029240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556492746	chr2:34029263-34029264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564281765	chr2:34029266-34029267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192303027	chr2:34029270-34029271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540495222	chr2:34029275-34029276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184185542	chr2:34029283-34029284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529430794	chr2:34029301-34029302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386644633	chr2:34029311-34029312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72782063	chr2:34029312-34029313	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs5830276	chr2:34029365-34029366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs397872076	chr2:34029366-34029367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531345499	chr2:34029386-34029387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188513119	chr2:34029388-34029389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571110597	chr2:34029408-34029409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142462953	chr2:34029411-34029412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs67420261	chr2:34029433-34029434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561293257	chr2:34029481-34029482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1879863	chr2:34029492-34029493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181645973	chr2:34029504-34029505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536432724	chr2:34029525-34029526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72782064	chr2:34029532-34029533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73926719	chr2:34029541-34029542	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1879864	chr2:34029557-34029558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs558251468	chr2:34029588-34029589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151323735	chr2:34029637-34029638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112577098	chr2:34029663-34029664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540264104	chr2:34029668-34029669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527541951	chr2:34029708-34029709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549022735	chr2:34029710-34029711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554022470	chr2:34029719-34029720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189929594	chr2:34029743-34029744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62129859	chr2:34029755-34029756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562901176	chr2:34029763-34029764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375242601	chr2:34029770-34029771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544749624	chr2:34029795-34029796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182564262	chr2:34029830-34029831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527264263	chr2:34029836-34029837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	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
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34029000-34030000	Enhancers	Ovary	ovary
2	chr2:34029400-34029800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:34029800-34035200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:34030000-34031000	Weak transcription	Ovary	ovary
5	chr2:34031200-34031400	Enhancers	Ovary	ovary
6	chr2:34034600-34035000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:34034600-34035400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:34034800-34035800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:34034800-34036800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:34035000-34035800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:34035200-34035600	Enhancers	NH-A	brain
12	chr2:34035200-34035800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:34035200-34035800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:34035200-34035800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:34035200-34035800	Enhancers	Adipose Nuclei	Adipose
16	chr2:34035200-34036600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:34035200-34036800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:34035400-34035600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:34035400-34035800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:34035600-34036400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr2:34035600-34036600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:34035600-34039400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:34035800-34036200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:34035800-34036600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:34035800-34037600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:34036200-34036400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:34036200-34036800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:34036400-34039400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:34036600-34037800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:34036600-34039600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:34036600-34039600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:34036800-34038000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:34036800-34039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:34037800-34038000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:34037800-34038200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:34038000-34038200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:34039400-34039800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:34039400-34040000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:34039400-34040400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:34039400-34040400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:34039400-34040400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:34039600-34040000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:34039600-34040000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr2:34039600-34040400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:34039600-34040400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:34039800-34040200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:34040000-34040200	Enhancers	Fetal Heart	heart
48	chr2:34045800-34046000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:34045800-34046200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:34046000-34050400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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