Variant report

Variant	nsv4732
Chromosome Location	chr5:15598325-15636520
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	BACH1	chr5:15604982-15605340	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr5:15613128-15613263	Hela-S3	cervix:	n/a	chr5:15613221-15613232 chr5:15613221-15613234 chr5:15613223-15613232 chr5:15613223-15613234
3	CEBPB	chr5:15613046-15613355	K562	blood:	n/a	chr5:15613221-15613232 chr5:15613221-15613234 chr5:15613223-15613232 chr5:15613223-15613234
4	CEBPB	chr5:15611075-15611493	A549	lung:	n/a	chr5:15611309-15611320
5	CEBPB	chr5:15634274-15634470	A549	lung:	n/a	chr5:15634380-15634391
6	CEBPB	chr5:15611127-15611503	A549	lung:	n/a	chr5:15611309-15611320
7	CEBPB	chr5:15613058-15613413	IMR90	lung:	n/a	chr5:15613221-15613232 chr5:15613221-15613234 chr5:15613223-15613232 chr5:15613223-15613234
8	CEBPB	chr5:15611124-15611505	IMR90	lung:	n/a	chr5:15611309-15611320
9	CEBPB	chr5:15613104-15613366	A549	lung:	n/a	chr5:15613221-15613232 chr5:15613221-15613234 chr5:15613223-15613232 chr5:15613223-15613234
10	CEBPB	chr5:15634221-15634421	HepG2	liver:	n/a	chr5:15634380-15634391
11	CEBPB	chr5:15611129-15611499	HepG2	liver:	n/a	chr5:15611309-15611320
12	CEBPB	chr5:15601405-15601826	MCF-7	breast:	n/a	chr5:15601603-15601614 chr5:15601603-15601616
13	CEBPB	chr5:15620184-15620569	IMR90	lung:	n/a	n/a
14	CEBPB	chr5:15613105-15613394	HepG2	liver:	n/a	chr5:15613221-15613232 chr5:15613221-15613234 chr5:15613223-15613232 chr5:15613223-15613234
15	CEBPB	chr5:15611238-15611385	HepG2	liver:	n/a	chr5:15611309-15611320
16	CEBPB	chr5:15611179-15611411	ECC-1	luminal epithelium:	n/a	chr5:15611309-15611320
17	CEBPB	chr5:15601428-15601772	HepG2	liver:	n/a	chr5:15601603-15601614 chr5:15601603-15601616
18	CEBPB	chr5:15601349-15601800	H1-hESC	embryonic stem cell:	n/a	chr5:15601603-15601614 chr5:15601603-15601616
19	CEBPB	chr5:15611122-15611493	Hela-S3	cervix:	n/a	chr5:15611309-15611320
20	CEBPB	chr5:15601441-15601775	IMR90	lung:	n/a	chr5:15601603-15601614 chr5:15601603-15601616
21	CEBPB	chr5:15611010-15611606	A549	lung:	n/a	chr5:15611309-15611320
22	CEBPB	chr5:15611066-15611546	MCF-7	breast:	n/a	chr5:15611309-15611320
23	CEBPB	chr5:15611127-15611528	H1-hESC	embryonic stem cell:	n/a	chr5:15611309-15611320
24	CEBPB	chr5:15611120-15611498	K562	blood:	n/a	chr5:15611309-15611320
25	CTCF	chr5:15598500-15598650	HPAF	blood vessel:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
26	CTCF	chr5:15598500-15598650	GM12865	blood:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
27	CTCF	chr5:15598660-15598810	A549	lung:	n/a	n/a
28	CTCF	chr5:15598540-15598690	GM12865	blood:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
29	CTCF	chr5:15598520-15598670	HPF	lung:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
30	CTCF	chr5:15628640-15628790	GM12869	blood:	n/a	n/a
31	CTCF	chr5:15598480-15598630	GM12870	blood:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
32	CTCF	chr5:15598540-15598690	GM12875	blood:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
33	CTCF	chr5:15598880-15599030	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr5:15598520-15598670	GM12870	blood:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
35	CTCF	chr5:15598580-15598730	GM12874	blood:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
36	CTCF	chr5:15598451-15598712	HUVEC	blood vessel:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
37	CTCF	chr5:15598568-15598693	GM12892	blood:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
38	CTCF	chr5:15598520-15598670	AG04449	skin:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
39	CTCF	chr5:15598560-15598710	GM12869	blood:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
40	CTCF	chr5:15598520-15598670	BJ	skin:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
41	CTCF	chr5:15598820-15598970	SAEC	small airway:	n/a	n/a
42	CTCF	chr5:15599120-15599270	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr5:15598485-15598661	Pancreas_OC	pancreas:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
44	CTCF	chr5:15598520-15598670	AG09319	gingival:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
45	CTCF	chr5:15598500-15598650	HMF	breast:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
46	CTCF	chr5:15598560-15598710	HAc	cerebellar:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
47	CTCF	chr5:15635314-15635366	ProgFib	skin:	n/a	n/a
48	CTCF	chr5:15598900-15599050	HCT-116	colon:	n/a	n/a
49	CTCF	chr5:15598540-15598690	HBMEC	blood vessel:	n/a	chr5:15598589-15598602 chr5:15598589-15598598
50	CTCF	chr5:15598460-15598610	HVMF	connective:	n/a	chr5:15598589-15598602 chr5:15598589-15598598

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:15611811..15614735-chr5:15615053..15617444,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCH11-2	chr5:15615085-15615268	NONHSAT100585
2	lnc-MARCH11-2	chr5:15614727-15614996	NONHSAT100585
3	lnc-MARCH11-2	chr5:15607269-15607358	ENSG00000250250.1
4	lnc-MARCH11-2	chr5:15606869-15607140	ENSG00000250250.1
5	lnc-MARCH11-2	chr5:15607269-15607457	ENSG00000250250.1
6	lnc-MARCH11-2	chr5:15607269-15607455	NR_109945
7	lnc-MARCH11-2	chr5:15615085-15615111	NR_109945
8	lnc-MARCH11-2	chr5:15602298-15602468	ENSG00000250250.1
9	lnc-MARCH11-2	chr5:15602298-15602468	NR_109945

Variant related genes	Relation type
FBXL7	TF binding region
ENSG00000250250	TF binding region
ENSG00000183580	chromatin interactions

Extended variants
information (count: 1460 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1460 , 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	rs34379089	chr5:15598330-15598331	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12189348	chr5:15598350-15598351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547593021	chr5:15598369-15598370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114451127	chr5:15598461-15598462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182515374	chr5:15598472-15598473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111511045	chr5:15598478-15598479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187172356	chr5:15598553-15598554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192311235	chr5:15598600-15598601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1019810	chr5:15598629-15598630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs558442949	chr5:15598650-15598651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1019811	chr5:15598673-15598674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs60388071	chr5:15598721-15598722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185100051	chr5:15598752-15598753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs16867525	chr5:15598790-15598791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189159016	chr5:15598816-15598817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371197451	chr5:15598827-15598828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548500206	chr5:15598830-15598831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541941308	chr5:15598846-15598847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570006597	chr5:15598884-15598885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561443139	chr5:15598975-15598976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528714528	chr5:15598994-15598995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193040515	chr5:15599026-15599027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571979457	chr5:15599059-15599060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375454262	chr5:15599064-15599065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149081463	chr5:15599068-15599069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550695761	chr5:15599098-15599099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146037240	chr5:15599131-15599132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147797115	chr5:15599189-15599190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184536750	chr5:15599267-15599268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566296762	chr5:15599367-15599368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536838765	chr5:15599380-15599381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115749876	chr5:15599436-15599437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558386113	chr5:15599460-15599461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373992410	chr5:15599471-15599472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576726058	chr5:15599474-15599475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6554889	chr5:15599482-15599483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs201704698	chr5:15599500-15599501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555869616	chr5:15599512-15599513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141233470	chr5:15599522-15599523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541530083	chr5:15599535-15599536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189010654	chr5:15599553-15599554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76099274	chr5:15599567-15599568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530938259	chr5:15599569-15599570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375477654	chr5:15599597-15599598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556857039	chr5:15599600-15599601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551286643	chr5:15599701-15599702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10073096	chr5:15599713-15599714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs530123941	chr5:15599778-15599779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181209837	chr5:15599795-15599796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548236919	chr5:15599816-15599817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15578200-15600200	Weak transcription	Left Ventricle	heart
2	chr5:15581000-15604400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:15581600-15603400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:15584000-15599200	Weak transcription	HSMMtube	muscle
5	chr5:15585000-15604000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:15585000-15606400	Weak transcription	Adipose Nuclei	Adipose
7	chr5:15585000-15630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:15585200-15600000	Weak transcription	HSMM	muscle
9	chr5:15585200-15601000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:15585200-15602000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:15585200-15605200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:15586000-15619800	Weak transcription	NHLF	lung
13	chr5:15586400-15598800	Weak transcription	Aorta	Aorta
14	chr5:15587400-15600200	Weak transcription	Lung	lung
15	chr5:15587800-15601000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:15587800-15601000	Weak transcription	Brain Anterior Caudate	brain
17	chr5:15588200-15598800	Weak transcription	Brain Substantia Nigra	brain
18	chr5:15588200-15605400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:15588400-15600400	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:15588400-15612600	Weak transcription	NHDF-Ad	bronchial
21	chr5:15588800-15603600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:15590800-15605000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:15593400-15606000	Weak transcription	HUVEC	blood vessel
24	chr5:15593400-15633400	Weak transcription	Fetal Lung	lung
25	chr5:15593600-15600000	Weak transcription	Fetal Stomach	stomach
26	chr5:15593600-15606200	Weak transcription	Fetal Brain Male	brain
27	chr5:15593600-15606400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:15593800-15601000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:15594800-15605000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:15595000-15601400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:15595200-15600200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:15595200-15607800	Weak transcription	Fetal Kidney	kidney
33	chr5:15595400-15600000	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:15595800-15600800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:15595800-15601000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:15596200-15601600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:15597400-15600600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:15597400-15600800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:15597400-15600800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:15597400-15604800	Weak transcription	Ovary	ovary
41	chr5:15597400-15605000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:15597800-15600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:15598000-15600200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:15598000-15601000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:15598000-15601400	Enhancers	Fetal Heart	heart
46	chr5:15598200-15598400	Enhancers	Colon Smooth Muscle	Colon
47	chr5:15598800-15599000	Enhancers	Aorta	Aorta
48	chr5:15598800-15599000	Enhancers	Brain Cingulate Gyrus	brain
49	chr5:15598800-15599200	Enhancers	Brain Substantia Nigra	brain
50	chr5:15599000-15599600	Weak transcription	Aorta	Aorta

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