Variant report

Variant	nsv565423
Chromosome Location	chr14:85427846-85638746
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	ARID3A	chr14:85589256-85589486	HepG2	liver:	n/a	n/a
2	BCL11A	chr14:85621151-85621340	GM12878	blood:	n/a	n/a
3	BHLHE40	chr14:85504871-85505190	GM12878	blood:	n/a	n/a
4	BHLHE40	chr14:85530250-85530337	GM12878	blood:	n/a	n/a
5	BRCA1	chr14:85468850-85468851	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr14:85597979-85598064	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr14:85576221-85576509	A549	lung:	n/a	n/a
8	CEBPB	chr14:85557095-85557301	IMR90	lung:	n/a	n/a
9	CEBPB	chr14:85554619-85554941	IMR90	lung:	n/a	chr14:85554757-85554768 chr14:85554757-85554768 chr14:85554795-85554806 chr14:85554755-85554766 chr14:85554755-85554768 chr14:85554755-85554768
10	CEBPB	chr14:85520744-85521013	HepG2	liver:	n/a	chr14:85520874-85520885
11	CEBPB	chr14:85598896-85599024	HepG2	liver:	n/a	n/a
12	CEBPB	chr14:85594061-85594147	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr14:85554658-85554927	MCF-7	breast:	n/a	chr14:85554757-85554768 chr14:85554757-85554768 chr14:85554795-85554806 chr14:85554755-85554766 chr14:85554755-85554768 chr14:85554755-85554768
14	CEBPB	chr14:85598891-85598978	A549	lung:	n/a	n/a
15	CEBPB	chr14:85554610-85554904	A549	lung:	n/a	chr14:85554757-85554768 chr14:85554757-85554768 chr14:85554795-85554806 chr14:85554755-85554766 chr14:85554755-85554768 chr14:85554755-85554768
16	CEBPB	chr14:85593945-85593963	IMR90	lung:	n/a	n/a
17	CEBPB	chr14:85520728-85520988	A549	lung:	n/a	chr14:85520874-85520885
18	CEBPB	chr14:85550687-85551014	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr14:85457454-85457788	Hela-S3	cervix:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457637-85457650
20	CEBPB	chr14:85520754-85521010	IMR90	lung:	n/a	chr14:85520874-85520885
21	CEBPB	chr14:85554611-85554896	HepG2	liver:	n/a	chr14:85554757-85554768 chr14:85554757-85554768 chr14:85554795-85554806 chr14:85554755-85554766 chr14:85554755-85554768 chr14:85554755-85554768
22	CEBPB	chr14:85554396-85555163	Hela-S3	cervix:	n/a	chr14:85554757-85554768 chr14:85554757-85554768 chr14:85554795-85554806 chr14:85554755-85554766 chr14:85554755-85554768 chr14:85554755-85554768
23	CEBPB	chr14:85457325-85457796	HepG2	liver:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457349-85457366 chr14:85457637-85457650
24	CEBPB	chr14:85435854-85436203	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr14:85476561-85476863	Hela-S3	cervix:	n/a	chr14:85476660-85476671 chr14:85476623-85476636
26	CEBPB	chr14:85506788-85506891	HepG2	liver:	n/a	n/a
27	CEBPB	chr14:85457498-85457685	H1-hESC	embryonic stem cell:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457637-85457650
28	CEBPB	chr14:85592950-85593190	A549	lung:	n/a	n/a
29	CEBPB	chr14:85584537-85584917	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr14:85457510-85457794	A549	lung:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457637-85457650
31	CEBPB	chr14:85457461-85457820	IMR90	lung:	n/a	chr14:85457637-85457650 chr14:85457638-85457649 chr14:85457637-85457650 chr14:85457637-85457650
32	CHD2	chr14:85530196-85530334	GM12878	blood:	n/a	n/a
33	CTCF	chr14:85631500-85631650	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr14:85597891-85598267	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:85598020-85598170	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr14:85598040-85598190	RPTEC	kidney:	n/a	n/a
37	CTCF	chr14:85448840-85448990	HRE	kidney:	n/a	n/a
38	CTCF	chr14:85597980-85598130	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr14:85448991-85449020	ProgFib	skin:	n/a	n/a
40	CTCF	chr14:85598000-85598150	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr14:85448940-85449090	HRE	kidney:	n/a	n/a
42	CTCF	chr14:85445117-85445186	Lung_OC	lung:	n/a	n/a
43	CTCF	chr14:85565393-85565586	GM12878	blood:	n/a	n/a
44	CTCF	chr14:85597960-85598110	HRE	kidney:	n/a	n/a
45	CTCF	chr14:85598013-85598127	HepG2	liver:	n/a	n/a
46	CTCF	chr14:85492367-85492691	GM12878	blood:	n/a	n/a
47	CTCF	chr14:85583440-85583590	GM12878	blood:	n/a	n/a
48	CTCF	chr14:85597920-85598070	MCF-7	breast:	n/a	n/a
49	CTCF	chr14:85597980-85598130	NHEK	skin:	n/a	n/a
50	CTCF	chr14:85565320-85565470	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:83766559..83767404-chr14:85597812..85598521,2	MCF-7	breast:
2	chr14:85504367..85505311-chr9:111430924..111431510,2	MCF-7	breast:
3	chr14:85563318..85564867-chr14:85565112..85566756,2	MCF-7	breast:
4	chr14:85609727..85612747-chr17:41464783..41468587,4	K562	blood:
5	chr14:85490593..85492977-chr14:85499997..85502268,2	K562	blood:
6	chr14:85611227..85612747-chr17:41464225..41466390,2	K562	blood:
7	chr14:85611226..85611727-chr17:41463821..41464360,2	HCT-116	colon:
8	chr14:85563318..85564867-chr14:85565112..85566756,2	MCF-7	breast:
9	chr11:62607627..62609150-chr14:85611227..85612747,2	K562	blood:
10	chr14:85490593..85492977-chr14:85499997..85502268,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-497E19.2.1-6	chr14:85606972-85607064	l_1023_chr14:85606971-85664205_whiteBloodCell
2	lnc-GALC-15	chr14:85464622-85465640	NONHSAT038108

Variant related genes	Relation type
ENSG00000271712	TF binding region
ENSG00000188825	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 4183 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:4183 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs856703	chr14:85427846-85427847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191507650	chr14:85427891-85427892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528783181	chr14:85427921-85427922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555064574	chr14:85427960-85427961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184731317	chr14:85428019-85428020	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543883212	chr14:85428039-85428040	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs564966573	chr14:85428051-85428052	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187928237	chr14:85428067-85428068	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541365449	chr14:85428124-85428125	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559578405	chr14:85428166-85428167	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530321134	chr14:85428219-85428220	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs548466389	chr14:85428222-85428223	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs377317243	chr14:85428224-85428225	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549129033	chr14:85428231-85428232	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs143073377	chr14:85428237-85428238	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs570511786	chr14:85428240-85428241	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528084940	chr14:85428258-85428259	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371118883	chr14:85428275-85428276	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs991701	chr14:85428276-85428277	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568234546	chr14:85428278-85428279	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs991702	chr14:85428316-85428317	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139846395	chr14:85428326-85428327	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149991762	chr14:85428336-85428337	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs571256218	chr14:85428397-85428398	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs538687338	chr14:85428446-85428447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs193293346	chr14:85428493-85428494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534994458	chr14:85428513-85428514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540981435	chr14:85428514-85428515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145611814	chr14:85428592-85428593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369886556	chr14:85428599-85428600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185158359	chr14:85428658-85428659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542761762	chr14:85428714-85428715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542496449	chr14:85428752-85428753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563761542	chr14:85428770-85428771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148493696	chr14:85428803-85428804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116952726	chr14:85428812-85428813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1756582	chr14:85428866-85428867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs34965569	chr14:85428900-85428901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528113792	chr14:85428909-85428910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17120571	chr14:85428911-85428912	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190352360	chr14:85428918-85428919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529201400	chr14:85428942-85428943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17738795	chr14:85428969-85428970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184244433	chr14:85428978-85428979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539205975	chr14:85428981-85428982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370574616	chr14:85429035-85429036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1679635	chr14:85429092-85429093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142702610	chr14:85429103-85429104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34754829	chr14:85429124-85429125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79894782	chr14:85429140-85429141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85426200-85428000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:85426400-85428400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:85426600-85429000	Enhancers	Fetal Heart	heart
4	chr14:85427000-85428000	Weak transcription	Brain Anterior Caudate	brain
5	chr14:85427000-85428000	Weak transcription	Brain Germinal Matrix	brain
6	chr14:85427000-85429400	Weak transcription	HUVEC	blood vessel
7	chr14:85427200-85434000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:85427400-85429000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr14:85427800-85428000	Enhancers	Brain Hippocampus Middle	brain
10	chr14:85427800-85428000	Enhancers	Brain Substantia Nigra	brain
11	chr14:85427800-85428200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr14:85427800-85428200	Enhancers	HSMMtube	muscle
13	chr14:85428000-85428400	Enhancers	Brain Anterior Caudate	brain
14	chr14:85428000-85428400	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr14:85428000-85428400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr14:85428000-85428400	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr14:85428000-85428400	Enhancers	Right Ventricle	heart
18	chr14:85428000-85428600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:85428000-85429000	Enhancers	Brain Germinal Matrix	brain
20	chr14:85428200-85428400	Flanking Active TSS	HSMMtube	muscle
21	chr14:85428400-85429000	Enhancers	Brain Hippocampus Middle	brain
22	chr14:85429400-85433200	Enhancers	HUVEC	blood vessel
23	chr14:85433200-85434000	Weak transcription	HUVEC	blood vessel
24	chr14:85434000-85434200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:85434000-85434200	Enhancers	HUVEC	blood vessel
26	chr14:85434200-85435200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:85435200-85435800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr14:85435200-85436200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr14:85435400-85436000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:85435600-85436600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:85435600-85436600	Enhancers	HMEC	breast
32	chr14:85435800-85436400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:85435800-85438600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:85436000-85436600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:85436000-85439000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:85436200-85438600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:85436600-85442000	Weak transcription	HMEC	breast
38	chr14:85438600-85439400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr14:85438600-85439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr14:85439000-85439400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr14:85439000-85439400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr14:85439000-85439400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:85440000-85440400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:85441200-85443400	Enhancers	Fetal Brain Male	brain
45	chr14:85441600-85442400	Enhancers	Fetal Kidney	kidney
46	chr14:85441800-85443200	Enhancers	HUVEC	blood vessel
47	chr14:85442000-85442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:85442000-85443400	Enhancers	NHEK	skin
49	chr14:85442000-85443600	Enhancers	HMEC	breast
50	chr14:85442200-85443000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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