Variant report

Variant	nsv833736
Chromosome Location	chr2:35131118-35321302
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	ATF3	chr2:35305906-35306470	A549	lung:	n/a	n/a
2	CEBPB	chr2:35268351-35268632	HepG2	liver:	n/a	chr2:35268466-35268477
3	CEBPB	chr2:35198711-35198969	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:35305982-35306458	A549	lung:	n/a	chr2:35306013-35306030
5	CEBPB	chr2:35157783-35157896	A549	lung:	n/a	chr2:35157789-35157800
6	CEBPB	chr2:35151291-35151493	HepG2	liver:	n/a	chr2:35151435-35151446 chr2:35151433-35151450
7	CEBPB	chr2:35305797-35306568	A549	lung:	n/a	chr2:35306013-35306030
8	CEBPB	chr2:35175897-35176261	HepG2	liver:	n/a	chr2:35176080-35176091
9	CEBPB	chr2:35175917-35176290	A549	lung:	n/a	chr2:35176080-35176091
10	CEBPB	chr2:35140749-35141093	HepG2	liver:	n/a	chr2:35140913-35140924 chr2:35140893-35140904
11	CEBPB	chr2:35174661-35174982	HepG2	liver:	n/a	chr2:35174816-35174827 chr2:35174816-35174829
12	CEBPB	chr2:35175897-35176260	IMR90	lung:	n/a	chr2:35176080-35176091
13	CEBPB	chr2:35175921-35176220	H1-hESC	embryonic stem cell:	n/a	chr2:35176080-35176091
14	CEBPB	chr2:35175918-35176267	K562	blood:	n/a	chr2:35176080-35176091
15	CEBPB	chr2:35305751-35306362	A549	lung:	n/a	chr2:35306013-35306030
16	CEBPB	chr2:35312055-35312217	A549	lung:	n/a	n/a
17	CEBPB	chr2:35255529-35255814	HepG2	liver:	n/a	chr2:35255644-35255655
18	CEBPB	chr2:35175907-35176228	Hela-S3	cervix:	n/a	chr2:35176080-35176091
19	CEBPB	chr2:35174670-35174965	A549	lung:	n/a	chr2:35174816-35174827 chr2:35174816-35174829
20	CEBPB	chr2:35146505-35146722	HepG2	liver:	n/a	chr2:35146609-35146620 chr2:35146608-35146619
21	CEBPB	chr2:35156794-35157009	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:35306030-35306381	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr2:35303761-35303856	HepG2	liver:	n/a	chr2:35303788-35303799
24	CEBPB	chr2:35140794-35141058	A549	lung:	n/a	chr2:35140913-35140924 chr2:35140893-35140904
25	CEBPB	chr2:35175906-35176236	A549	lung:	n/a	chr2:35176080-35176091
26	CEBPB	chr2:35157695-35157958	HepG2	liver:	n/a	chr2:35157789-35157800
27	CEBPB	chr2:35268498-35268587	A549	lung:	n/a	n/a
28	CEBPB	chr2:35236508-35236708	A549	lung:	n/a	n/a
29	CEBPB	chr2:35305183-35305324	HepG2	liver:	n/a	chr2:35305190-35305202 chr2:35305241-35305252
30	CHD1	chr2:35186370-35186423	GM12878	blood:	n/a	n/a
31	CHD2	chr2:35186909-35187241	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr2:35261060-35261210	GM12878	blood:	n/a	n/a
33	CTCF	chr2:35261083-35261189	GM13977	blood:	n/a	n/a
34	CTCF	chr2:35261095-35261217	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:35204394-35204458	Gliobla	brain:	n/a	n/a
36	CTCF	chr2:35261018-35261301	A549	lung:	n/a	n/a
37	CTCF	chr2:35261060-35261210	GM12872	blood:	n/a	n/a
38	CTCF	chr2:35133060-35133210	NHEK	skin:	n/a	n/a
39	CTCF	chr2:35261040-35261190	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr2:35261020-35261170	HAc	cerebellar:	n/a	n/a
41	CTCF	chr2:35261109-35261198	GM19238	blood:	n/a	n/a
42	CTCF	chr2:35261040-35261190	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr2:35261049-35261243	HepG2	liver:	n/a	n/a
44	CTCF	chr2:35261067-35261193	Medullo	brain:	n/a	n/a
45	CTCF	chr2:35261040-35261190	GM12867	blood:	n/a	n/a
46	CTCF	chr2:35303840-35303990	BE2_C	brain:	n/a	n/a
47	CTCF	chr2:35261110-35261196	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:35261020-35261170	RPTEC	kidney:	n/a	n/a
49	CTCF	chr2:35261020-35261170	HepG2	liver:	n/a	n/a
50	CTCF	chr2:35261019-35261170	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:35130362..35133238-chr2:35148535..35150812,2	K562	blood:
2	chr2:35230910..35232963-chr2:35235828..35238432,2	K562	blood:
3	chr2:35230910..35232963-chr2:35235828..35238432,2	K562	blood:
4	chr2:35130281..35132812-chr2:35144803..35146892,2	K562	blood:
5	chr2:35130362..35133238-chr2:35148535..35150812,2	K562	blood:
6	chr2:35130281..35132812-chr2:35144803..35146892,2	K562	blood:
7	chr2:35286578..35288607-chr2:35290647..35293256,2	K562	blood:
8	chr2:35152123..35154075-chr2:35162750..35165499,2	K562	blood:
9	chr2:35152123..35154075-chr2:35162750..35165499,2	K562	blood:
10	chr2:35286578..35288607-chr2:35290647..35293256,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM98A-3	chr2:35224028-35224089	ENSG00000237320
2	lnc-FAM98A-3	chr2:35225023-35225227	ENSG00000237320
3	lnc-RASGRP3-15	chr2:35241346-35241409	NONHSAT070041
4	lnc-RASGRP3-15	chr2:35237654-35237725	NONHSAT070041
5	lnc-FAM98A-3	chr2:35223345-35223571	ENSG00000237320
6	lnc-RASGRP3-15	chr2:35241501-35241682	NONHSAT070041
7	lnc-RASGRP3-15	chr2:35238117-35238198	NONHSAT070041

Variant related genes	Relation type
ENSG00000237320	TF binding region

Extended variants
information (count: 1458 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1458 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36009501	chr2:35131130-35131131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371632008	chr2:35131158-35131159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528936299	chr2:35131212-35131213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546464370	chr2:35131227-35131228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553421295	chr2:35131276-35131277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573264460	chr2:35131285-35131286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149241432	chr2:35131308-35131309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186319610	chr2:35131314-35131315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34215084	chr2:35131338-35131339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78065460	chr2:35131351-35131352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568022180	chr2:35131379-35131380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542630250	chr2:35131414-35131415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550987376	chr2:35131453-35131454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535083973	chr2:35131480-35131481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369467085	chr2:35131481-35131482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564088159	chr2:35131491-35131492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569138587	chr2:35131495-35131496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532953389	chr2:35131498-35131499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78338852	chr2:35131501-35131502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560148026	chr2:35131508-35131509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529004849	chr2:35131566-35131567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191122390	chr2:35131570-35131571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568742861	chr2:35131596-35131597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540086127	chr2:35131616-35131617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558910043	chr2:35131632-35131633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570720513	chr2:35131639-35131640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7570109	chr2:35131686-35131687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573585351	chr2:35131717-35131718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539997486	chr2:35131718-35131719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553293472	chr2:35131723-35131724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573258872	chr2:35131779-35131780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112878714	chr2:35131795-35131796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143459444	chr2:35131797-35131798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575231334	chr2:35131800-35131801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544241505	chr2:35131881-35131882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564000462	chr2:35131886-35131887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182491506	chr2:35131907-35131908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111531564	chr2:35131915-35131916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186706896	chr2:35131983-35131984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116665879	chr2:35132029-35132030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112456959	chr2:35132053-35132054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540886428	chr2:35132090-35132091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112492978	chr2:35132124-35132125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529117842	chr2:35132125-35132126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548779768	chr2:35132154-35132155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377661891	chr2:35132155-35132156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75689264	chr2:35132164-35132165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191145970	chr2:35132174-35132175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551404276	chr2:35132176-35132177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571109081	chr2:35132179-35132180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35130200-35134400	Weak transcription	Fetal Stomach	stomach
2	chr2:35134200-35134600	Enhancers	Fetal Kidney	kidney
3	chr2:35134400-35134800	Enhancers	Fetal Stomach	stomach
4	chr2:35134600-35135800	Weak transcription	Fetal Kidney	kidney
5	chr2:35134600-35136000	Enhancers	Brain Substantia Nigra	brain
6	chr2:35134800-35135800	Weak transcription	Fetal Stomach	stomach
7	chr2:35135200-35136000	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:35135400-35135600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:35135800-35136000	Enhancers	Fetal Stomach	stomach
10	chr2:35135800-35136200	Enhancers	Brain Hippocampus Middle	brain
11	chr2:35135800-35136600	Enhancers	Fetal Kidney	kidney
12	chr2:35136800-35137400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:35137000-35137400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:35137400-35138400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:35138400-35138600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:35174600-35175200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:35174600-35175200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:35174600-35175400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:35174600-35175600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:35181400-35187000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:35187000-35187400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:35187000-35187400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:35187200-35187600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:35202000-35204400	Weak transcription	Pancreas	Pancrea
25	chr2:35204000-35204400	Active TSS	Hela-S3	cervix
26	chr2:35204400-35204600	Genic enhancers	Pancreas	Pancrea
27	chr2:35204600-35206200	Weak transcription	Pancreas	Pancrea
28	chr2:35219400-35220000	Enhancers	Fetal Brain Female	brain
29	chr2:35222600-35223000	Enhancers	Fetal Brain Male	brain
30	chr2:35223000-35223800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:35223800-35224200	Enhancers	Brain Substantia Nigra	brain
32	chr2:35263000-35263200	Enhancers	Esophagus	oesophagus
33	chr2:35263200-35265200	Weak transcription	Esophagus	oesophagus
34	chr2:35265200-35265400	Enhancers	Esophagus	oesophagus
35	chr2:35265400-35265600	Weak transcription	Esophagus	oesophagus
36	chr2:35292400-35293200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:35305000-35307600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:35305200-35305600	Enhancers	NHDF-Ad	bronchial
39	chr2:35305200-35305800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:35305200-35306600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:35305400-35305800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:35305400-35306000	Active TSS	A549	lung
43	chr2:35305600-35306200	Enhancers	NH-A	brain
44	chr2:35305800-35306200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr2:35305800-35306400	Enhancers	Fetal Lung	lung
46	chr2:35306000-35306200	Flanking Active TSS	A549	lung
47	chr2:35306000-35306400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:35306200-35307200	Weak transcription	A549	lung
49	chr2:35306200-35307400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr2:35306600-35307000	Enhancers	Pancreatic Islets	Pancreatic Islet

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