Variant report

Variant	nsv428030
Chromosome Location	chr2:35051843-35286924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:345)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:35236508-35236708	A549	lung:	n/a	n/a
2	CEBPB	chr2:35175906-35176236	A549	lung:	n/a	chr2:35176080-35176091
3	CEBPB	chr2:35174670-35174965	A549	lung:	n/a	chr2:35174816-35174827 chr2:35174816-35174829
4	CEBPB	chr2:35175897-35176261	HepG2	liver:	n/a	chr2:35176080-35176091
5	CEBPB	chr2:35146505-35146722	HepG2	liver:	n/a	chr2:35146609-35146620 chr2:35146608-35146619
6	CEBPB	chr2:35080062-35080354	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:35174661-35174982	HepG2	liver:	n/a	chr2:35174816-35174827 chr2:35174816-35174829
8	CEBPB	chr2:35151291-35151493	HepG2	liver:	n/a	chr2:35151435-35151446 chr2:35151433-35151450
9	CEBPB	chr2:35140794-35141058	A549	lung:	n/a	chr2:35140913-35140924 chr2:35140893-35140904
10	CEBPB	chr2:35268498-35268587	A549	lung:	n/a	n/a
11	CEBPB	chr2:35198711-35198969	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:35156794-35157009	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:35157783-35157896	A549	lung:	n/a	chr2:35157789-35157800
14	CEBPB	chr2:35255529-35255814	HepG2	liver:	n/a	chr2:35255644-35255655
15	CEBPB	chr2:35157695-35157958	HepG2	liver:	n/a	chr2:35157789-35157800
16	CEBPB	chr2:35268351-35268632	HepG2	liver:	n/a	chr2:35268466-35268477
17	CEBPB	chr2:35175921-35176220	H1-hESC	embryonic stem cell:	n/a	chr2:35176080-35176091
18	CEBPB	chr2:35175918-35176267	K562	blood:	n/a	chr2:35176080-35176091
19	CEBPB	chr2:35100004-35100077	A549	lung:	n/a	n/a
20	CEBPB	chr2:35140749-35141093	HepG2	liver:	n/a	chr2:35140913-35140924 chr2:35140893-35140904
21	CEBPB	chr2:35175907-35176228	Hela-S3	cervix:	n/a	chr2:35176080-35176091
22	CEBPB	chr2:35175897-35176260	IMR90	lung:	n/a	chr2:35176080-35176091
23	CEBPB	chr2:35175917-35176290	A549	lung:	n/a	chr2:35176080-35176091
24	CHD1	chr2:35186370-35186423	GM12878	blood:	n/a	n/a
25	CHD2	chr2:35186909-35187241	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr2:35056030-35056177	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr2:35284871-35284891	GM20000	blood:	n/a	n/a
28	CTCF	chr2:35261060-35261210	HRE	kidney:	n/a	n/a
29	CTCF	chr2:35145508-35145516	GM10248	blood:	n/a	n/a
30	CTCF	chr2:35260928-35261297	A549	lung:	n/a	n/a
31	CTCF	chr2:35200666-35200712	K562	blood:	n/a	n/a
32	CTCF	chr2:35204380-35204530	HEK293	kidney:	n/a	n/a
33	CTCF	chr2:35132940-35133206	GM12878	blood:	n/a	n/a
34	CTCF	chr2:35261060-35261210	BE2_C	brain:	n/a	n/a
35	CTCF	chr2:35133000-35133088	GM13977	blood:	n/a	n/a
36	CTCF	chr2:35261040-35261190	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr2:35190680-35190830	BE2_C	brain:	n/a	n/a
38	CTCF	chr2:35190660-35190810	HEK293	kidney:	n/a	n/a
39	CTCF	chr2:35261095-35261217	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:35261000-35261150	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr2:35261120-35261270	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr2:35261060-35261210	GM12878	blood:	n/a	n/a
43	CTCF	chr2:35246309-35246389	LNCaP	prostate:	n/a	n/a
44	CTCF	chr2:35133060-35133210	NHEK	skin:	n/a	n/a
45	CTCF	chr2:35204380-35204530	BE2_C	brain:	n/a	n/a
46	CTCF	chr2:35261020-35261170	HAc	cerebellar:	n/a	n/a
47	CTCF	chr2:35135273-35135306	LNCaP	prostate:	n/a	n/a
48	CTCF	chr2:35283631-35283704	GM10248	blood:	n/a	n/a
49	CTCF	chr2:35261067-35261193	Medullo	brain:	n/a	n/a
50	CTCF	chr2:35230222-35230376	Kidney_OC	kidney:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:35152123..35154075-chr2:35162750..35165499,2	K562	blood:
2	chr2:35124308..35126436-chr2:35127473..35129610,2	K562	blood:
3	chr2:35086981..35089694-chr2:35094487..35097235,2	K562	blood:
4	chr2:35230910..35232963-chr2:35235828..35238432,2	K562	blood:
5	chr2:35230910..35232963-chr2:35235828..35238432,2	K562	blood:
6	chr2:35130281..35132812-chr2:35144803..35146892,2	K562	blood:
7	chr2:35130362..35133238-chr2:35148535..35150812,2	K562	blood:
8	chr2:35086981..35089694-chr2:35094487..35097235,2	K562	blood:
9	chr2:35124308..35126436-chr2:35127473..35129610,2	K562	blood:
10	chr2:35152123..35154075-chr2:35162750..35165499,2	K562	blood:
11	chr2:35286578..35288607-chr2:35290647..35293256,2	K562	blood:
12	chr2:35130281..35132812-chr2:35144803..35146892,2	K562	blood:
13	chr2:35049634..35051232-chr2:35070862..35073503,2	K562	blood:
14	chr2:35130362..35133238-chr2:35148535..35150812,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM98A-3	chr2:35223345-35223571	ENSG00000237320
2	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
3	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
4	lnc-FAM98A-11	chr2:35076849-35077075	NONHSAT070061
5	lnc-FAM98A-3	chr2:35224028-35224089	ENSG00000237320
6	lnc-CRIM1-1	chr2:35056430-35056559	XLOC_001425
7	lnc-RASGRP3-15	chr2:35238117-35238198	NONHSAT070041
8	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
9	lnc-RASGRP3-15	chr2:35241501-35241682	NONHSAT070041
10	lnc-RASGRP3-15	chr2:35241346-35241409	NONHSAT070041
11	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
12	lnc-RASGRP3-15	chr2:35237654-35237725	NONHSAT070041
13	lnc-FAM98A-11	chr2:35078527-35078731	NONHSAT070061
14	lnc-FAM98A-11	chr2:35077532-35077593	NONHSAT070061
15	lnc-FAM98A-3	chr2:35225023-35225227	ENSG00000237320
16	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
17	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3

No data

Variant related genes	Relation type
ENSG00000237320	TF binding region
ENSG00000226994	TF binding region
NAP1L1	miRNA target sites

Extended variants
information (count: 3314 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3314 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572867864	chr2:35051864-35051865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182454888	chr2:35051895-35051896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574359163	chr2:35051911-35051912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186789208	chr2:35051930-35051931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563461396	chr2:35051939-35051940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555305478	chr2:35051949-35051950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191248354	chr2:35051953-35051954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114612751	chr2:35051957-35051958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563959853	chr2:35051965-35051966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577643943	chr2:35052010-35052011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117183793	chr2:35052036-35052037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373213405	chr2:35052042-35052043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541761859	chr2:35052064-35052065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs431731	chr2:35052075-35052076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371718717	chr2:35052085-35052086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548402384	chr2:35052088-35052089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386644729	chr2:35052108-35052109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143718498	chr2:35052109-35052110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184931110	chr2:35052139-35052140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189444782	chr2:35052143-35052144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567268457	chr2:35052153-35052154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539368797	chr2:35052165-35052166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193173396	chr2:35052189-35052190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185072607	chr2:35052190-35052191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189449902	chr2:35052196-35052197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375747748	chr2:35052207-35052208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181842931	chr2:35052212-35052213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369938475	chr2:35052245-35052246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555164200	chr2:35052308-35052309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185251046	chr2:35052352-35052353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148079729	chr2:35052353-35052354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557818057	chr2:35052357-35052358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188164947	chr2:35052405-35052406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143838411	chr2:35052410-35052411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556171701	chr2:35052428-35052429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553565210	chr2:35052504-35052505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573361270	chr2:35052519-35052520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542455823	chr2:35052601-35052602	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs180700681	chr2:35052609-35052610	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs531062252	chr2:35052627-35052628	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs544172317	chr2:35052642-35052643	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs564153834	chr2:35052664-35052665	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs146893596	chr2:35052686-35052687	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs377632781	chr2:35052688-35052689	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs577855867	chr2:35052702-35052703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545114178	chr2:35052764-35052765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546490572	chr2:35052798-35052799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71449535	chr2:35052833-35052834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186618983	chr2:35052864-35052865	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs369675369	chr2:35052888-35052889	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35047800-35056200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:35055800-35056000	Enhancers	Brain Cingulate Gyrus	brain
3	chr2:35056000-35056400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:35056000-35056600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:35056000-35056600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:35056000-35056600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:35056000-35056800	Active TSS	Brain Angular Gyrus	brain
8	chr2:35056000-35056800	Active TSS	Brain Anterior Caudate	brain
9	chr2:35056000-35056800	Active TSS	Brain Cingulate Gyrus	brain
10	chr2:35056000-35056800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:35056000-35057000	Active TSS	Brain Hippocampus Middle	brain
12	chr2:35056000-35057000	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr2:35056000-35057000	Active TSS	Brain Substantia Nigra	brain
14	chr2:35056200-35056400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:35056200-35056600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:35056200-35056600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:35056200-35056600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:35056200-35056600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:35056200-35056600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:35056200-35056800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:35056200-35056800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:35056400-35056600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:35057200-35080400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:35069200-35069400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:35069400-35071600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:35069600-35070400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:35069800-35070200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:35070000-35070200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:35070200-35070400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:35070200-35070400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:35070200-35071400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:35070400-35071000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:35070400-35071600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:35071000-35072000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:35071400-35072200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:35071600-35072000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:35071600-35072000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:35071800-35072000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:35073000-35075600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:35073000-35075800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:35073000-35075800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:35073200-35075200	Enhancers	Primary hematopoietic stem cells	blood
43	chr2:35073800-35074200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr2:35074600-35081400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:35075600-35078600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:35075800-35078200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:35075800-35078600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:35076600-35076800	Enhancers	Pancreas	Pancrea
49	chr2:35076600-35077000	Enhancers	Liver	Liver
50	chr2:35076800-35079000	Weak transcription	Pancreas	Pancrea

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