Variant report

Variant	nsv873801
Chromosome Location	chr2:34005793-34103546
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	chr2:34010355-34011098	GM12878	blood:	n/a	n/a
2	BHLHE40	chr2:34009927-34010076	GM12878	blood:	n/a	n/a
3	CEBPB	chr2:34074246-34074592	IMR90	lung:	n/a	chr2:34074408-34074419
4	CEBPB	chr2:34098418-34098628	A549	lung:	n/a	n/a
5	CEBPB	chr2:34046847-34047396	IMR90	lung:	n/a	chr2:34046985-34046996 chr2:34046985-34046998
6	CEBPB	chr2:34063300-34063564	IMR90	lung:	n/a	chr2:34063436-34063447
7	CEBPB	chr2:34050108-34050338	A549	lung:	n/a	chr2:34050219-34050230
8	CEBPB	chr2:34074371-34074506	H1-hESC	embryonic stem cell:	n/a	chr2:34074408-34074419
9	CEBPB	chr2:34016736-34017067	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr2:34027728-34028064	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:34046826-34047351	HepG2	liver:	n/a	chr2:34046985-34046996 chr2:34046985-34046998
12	CEBPB	chr2:34047164-34047373	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr2:34093496-34093707	A549	lung:	n/a	n/a
14	CEBPB	chr2:34062064-34062078	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:34016763-34016978	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:34046885-34047345	A549	lung:	n/a	chr2:34046985-34046996 chr2:34046985-34046998
17	CEBPB	chr2:34016775-34017034	A549	lung:	n/a	n/a
18	CEBPB	chr2:34016725-34017098	IMR90	lung:	n/a	n/a
19	CEBPB	chr2:34074263-34074579	A549	lung:	n/a	chr2:34074408-34074419
20	CEBPB	chr2:34062049-34062067	A549	lung:	n/a	n/a
21	CEBPB	chr2:34090949-34090976	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr2:34074255-34074588	HepG2	liver:	n/a	chr2:34074408-34074419
23	CEBPB	chr2:34050115-34050323	HepG2	liver:	n/a	chr2:34050219-34050230
24	CEBPB	chr2:34063261-34063570	HepG2	liver:	n/a	chr2:34063436-34063447
25	CEBPB	chr2:34073519-34074040	IMR90	lung:	n/a	n/a
26	CEBPB	chr2:34027732-34028058	A549	lung:	n/a	n/a
27	CHD2	chr2:34010971-34011007	GM12878	blood:	n/a	n/a
28	CHD2	chr2:34010211-34010613	GM12878	blood:	n/a	n/a
29	CTCF	chr2:34008060-34008210	BJ	skin:	n/a	chr2:34008113-34008131
30	CTCF	chr2:34008093-34008161	MCF-7	breast:	n/a	chr2:34008113-34008131
31	CTCF	chr2:34057720-34057870	GM12874	blood:	n/a	n/a
32	CTCF	chr2:34045840-34045990	AG09319	gingival:	n/a	chr2:34045928-34045946
33	CTCF	chr2:34017960-34018110	GM12868	blood:	n/a	n/a
34	CTCF	chr2:34045780-34045930	A549	lung:	n/a	n/a
35	CTCF	chr2:34008020-34008170	AG09309	skin:	n/a	chr2:34008113-34008131
36	CTCF	chr2:34045901-34046108	GM12878	blood:	n/a	chr2:34045928-34045946
37	CTCF	chr2:34084463-34084530	Lung_OC	lung:	n/a	n/a
38	CTCF	chr2:34045840-34045990	GM12875	blood:	n/a	chr2:34045928-34045946
39	CTCF	chr2:34063595-34063608	GM13976	blood:	n/a	n/a
40	CTCF	chr2:34008038-34008211	GM12892	blood:	n/a	chr2:34008113-34008131
41	CTCF	chr2:34067380-34067530	A549	lung:	n/a	n/a
42	CTCF	chr2:34008040-34008190	WERI-Rb-1	eye:	n/a	chr2:34008113-34008131
43	CTCF	chr2:34008074-34008094	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chr2:34008114-34008143	Fibrobl	skin:	n/a	n/a
45	CTCF	chr2:34008029-34008236	GM19238	blood:	n/a	chr2:34008113-34008131
46	CTCF	chr2:34067260-34067410	HepG2	liver:	n/a	n/a
47	CTCF	chr2:34008080-34008159	HepG2	liver:	n/a	chr2:34008113-34008131
48	CTCF	chr2:34067340-34067490	GM12873	blood:	n/a	n/a
49	CTCF	chr2:34008100-34008250	AG09319	gingival:	n/a	chr2:34008113-34008131
50	CTCF	chr2:34008080-34008230	A549	lung:	n/a	chr2:34008113-34008131

No.	Distal block	Cell Line	Cell type
1	chr2:34008516..34010441-chr2:34014849..34016681,2	MCF-7	breast:
2	chr2:34033415..34035422-chr2:34038221..34040306,2	MCF-7	breast:
3	chr2:34008516..34010441-chr2:34014849..34016681,2	MCF-7	breast:
4	chr11:62608939..62609489-chr2:34040620..34041120,2	Hela-S3	cervix:
5	chr2:34056369..34058032-chr2:34058034..34060009,2	K562	blood:
6	chr2:34033415..34035422-chr2:34038221..34040306,2	MCF-7	breast:
7	chr2:34056369..34058032-chr2:34058034..34060009,2	K562	blood:

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

Variant related genes	Relation type
SLC25A5P2	TF binding region
ENSG00000264267	TF binding region
ENSG00000133316	chromatin interactions

Extended variants
information (count: 3538 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:3538 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12712364	chr2:34005793-34005794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550130338	chr2:34005799-34005800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532448845	chr2:34005807-34005808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545989291	chr2:34005809-34005810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559600339	chr2:34005879-34005880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527767144	chr2:34005912-34005913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6758493	chr2:34005993-34005994	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183520951	chr2:34006010-34006011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150810287	chr2:34006073-34006074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12712365	chr2:34006168-34006169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs569988139	chr2:34006203-34006204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538962447	chr2:34006204-34006205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558711506	chr2:34006205-34006206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565343643	chr2:34006216-34006217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200254326	chr2:34006226-34006227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535689345	chr2:34006232-34006233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200114646	chr2:34006241-34006242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13007095	chr2:34006268-34006269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534712438	chr2:34006270-34006271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112633252	chr2:34006289-34006290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543393854	chr2:34006292-34006293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375345170	chr2:34006333-34006334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376735685	chr2:34006334-34006335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58865458	chr2:34006335-34006336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577171942	chr2:34006364-34006365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576195201	chr2:34006412-34006413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188762964	chr2:34006528-34006529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374568202	chr2:34006598-34006599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11898779	chr2:34006605-34006606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77506094	chr2:34006610-34006611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559499748	chr2:34006613-34006614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528317701	chr2:34006618-34006619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542019128	chr2:34006631-34006632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147158089	chr2:34006637-34006638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147942276	chr2:34006644-34006645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72186581	chr2:34006674-34006675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58760456	chr2:34006684-34006685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561179595	chr2:34006711-34006712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139482609	chr2:34006717-34006718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530234728	chr2:34006752-34006753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36032343	chr2:34006802-34006803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549730620	chr2:34006804-34006805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6704817	chr2:34006818-34006819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543979691	chr2:34006846-34006847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532644054	chr2:34006866-34006867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552497471	chr2:34006870-34006871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72860126	chr2:34006899-34006900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563590264	chr2:34006912-34006913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548764391	chr2:34006917-34006918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558913400	chr2:34006945-34006946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34003800-34009400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:34005200-34009400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:34005800-34006000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:34006000-34007000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:34007000-34007200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:34007000-34008800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:34007200-34011000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:34007400-34008400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:34007600-34008400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:34007600-34008400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:34008400-34009400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:34008400-34009600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:34008800-34009200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:34009000-34009600	Enhancers	GM12878-XiMat	blood
15	chr2:34009200-34010200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:34009400-34010600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:34009400-34011400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:34009400-34011400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:34009400-34014800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:34009600-34011400	Flanking Active TSS	GM12878-XiMat	blood
21	chr2:34009800-34010000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:34009800-34011200	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:34009800-34011600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:34010200-34011800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:34010600-34013000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:34011000-34011200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:34011200-34011600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:34011400-34011600	Enhancers	GM12878-XiMat	blood
29	chr2:34011600-34012200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:34011600-34013000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:34011800-34012200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:34012400-34013600	Enhancers	NHDF-Ad	bronchial
33	chr2:34013000-34013400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:34013000-34013600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:34013400-34021000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:34014800-34015600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:34015600-34017200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:34017200-34021000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:34021000-34021600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:34021000-34021800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:34021000-34021800	Enhancers	Fetal Heart	heart
42	chr2:34021000-34022200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:34021600-34027400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:34027400-34028200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:34029000-34030000	Enhancers	Ovary	ovary
46	chr2:34029400-34029800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:34029800-34035200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:34030000-34031000	Weak transcription	Ovary	ovary
49	chr2:34031200-34031400	Enhancers	Ovary	ovary
50	chr2:34034600-34035000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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