Variant report

Variant	nsv882380
Chromosome Location	chr5:92012438-92064532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:308)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:308 , 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	ARID3A	chr5:92031123-92031376	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:92044962-92044968	IMR90	lung:	n/a	n/a
3	CEBPB	chr5:92061157-92061301	A549	lung:	n/a	n/a
4	CEBPB	chr5:92031190-92031381	HepG2	liver:	n/a	n/a
5	CREB1	chr5:92014384-92014574	A549	lung:	n/a	n/a
6	CTCF	chr5:92023880-92024030	BJ	skin:	n/a	n/a
7	CTCF	chr5:92023909-92023966	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr5:92023728-92024218	IMR90	lung:	n/a	n/a
9	CTCF	chr5:92023889-92024010	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr5:92023880-92024030	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr5:92014460-92014610	AG04450	lung:	n/a	n/a
12	CTCF	chr5:92014380-92014530	HAc	cerebellar:	n/a	n/a
13	CTCF	chr5:92023600-92023750	HA-sp	spinal cord:	n/a	n/a
14	CTCF	chr5:92023960-92024110	HCT-116	colon:	n/a	n/a
15	CTCF	chr5:92023860-92024010	AG09319	gingival:	n/a	n/a
16	CTCF	chr5:92014436-92014500	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr5:92014336-92014598	GM12878	blood:	n/a	n/a
18	CTCF	chr5:92014260-92014410	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr5:92023780-92023930	HFF-Myc	foreskin:	n/a	n/a
20	CTCF	chr5:92023880-92024030	SAEC	small airway:	n/a	n/a
21	CTCF	chr5:92023814-92024134	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr5:92014381-92014591	MCF-7	breast:	n/a	n/a
23	CTCF	chr5:92023872-92024049	MCF-7	breast:	n/a	n/a
24	CTCF	chr5:92014460-92014610	RPTEC	kidney:	n/a	n/a
25	CTCF	chr5:92014182-92014856	A549	lung:	n/a	n/a
26	CTCF	chr5:92014354-92014644	HepG2	liver:	n/a	n/a
27	CTCF	chr5:92023920-92024070	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr5:92014420-92014562	Fibrobl	skin:	n/a	n/a
29	CTCF	chr5:92023880-92024030	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr5:92023893-92024067	A549	lung:	n/a	n/a
31	CTCF	chr5:92023880-92024030	MCF-7	breast:	n/a	n/a
32	CTCF	chr5:92023891-92024020	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr5:92014460-92014610	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr5:92014400-92014550	Caco-2	colon:	n/a	n/a
35	CTCF	chr5:92023900-92024050	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr5:92014440-92014590	HCFaa	heart:	n/a	n/a
37	CTCF	chr5:92014398-92014570	HepG2	liver:	n/a	n/a
38	CTCF	chr5:92014420-92014570	RPTEC	kidney:	n/a	n/a
39	CTCF	chr5:92014240-92014390	A549	lung:	n/a	n/a
40	CTCF	chr5:92014249-92014777	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:92014400-92014550	HFF	foreskin:	n/a	n/a
42	CTCF	chr5:92014380-92014530	BE2_C	brain:	n/a	n/a
43	CTCF	chr5:92023805-92024191	MCF-7	breast:	n/a	n/a
44	CTCF	chr5:92023868-92024043	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr5:92014420-92014570	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr5:92014400-92014550	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr5:92014440-92014590	A549	lung:	n/a	n/a
48	CTCF	chr5:92023900-92024050	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr5:92014400-92014550	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr5:92023906-92024016	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:92047627..92050284-chr5:92057636..92060353,2	MCF-7	breast:
2	chr5:92023157..92023758-chr5:92173968..92174654,2	MCF-7	breast:
3	chr5:92047627..92050284-chr5:92057636..92060353,2	MCF-7	breast:
4	chr5:92003404..92005151-chr5:92021003..92023923,2	MCF-7	breast:
5	chr5:92014050..92014925-chr5:92173501..92174178,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM172A-5	chr5:92023827-92023961	XLOC_004927
2	lnc-NR2F1-4	chr5:92014438-92014848	XLOC_004472

No data

Variant related genes	Relation type
ENSG00000249984	TF binding region
ENSG00000221810	TF binding region
CCNE1	miRNA target sites

Extended variants
information (count: 1112 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1112 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs972727	chr5:92012438-92012439	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575611054	chr5:92012469-92012470	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553652085	chr5:92012528-92012529	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182655878	chr5:92012606-92012607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374967476	chr5:92012611-92012612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367543783	chr5:92012612-92012613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185944332	chr5:92012644-92012645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191990843	chr5:92012687-92012688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575103462	chr5:92012702-92012703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544203817	chr5:92012705-92012706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563978839	chr5:92012719-92012720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs118049061	chr5:92012742-92012743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183863917	chr5:92012749-92012750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139019466	chr5:92012784-92012785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143141078	chr5:92012817-92012818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200762284	chr5:92012863-92012864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79009353	chr5:92012899-92012900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569146170	chr5:92012900-92012901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537013375	chr5:92012957-92012958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550958386	chr5:92012996-92012997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571816887	chr5:92013040-92013041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187874882	chr5:92013064-92013065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190789000	chr5:92013109-92013110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540775887	chr5:92013141-92013142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560543737	chr5:92013145-92013146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111274875	chr5:92013170-92013171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369630708	chr5:92013282-92013283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10074761	chr5:92013434-92013435	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182969956	chr5:92013444-92013445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575896646	chr5:92013482-92013483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536767738	chr5:92013513-92013514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144002398	chr5:92013581-92013582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557371103	chr5:92013641-92013642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375111517	chr5:92013671-92013672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577301469	chr5:92013674-92013675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556712975	chr5:92013689-92013690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532805583	chr5:92013693-92013694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546164774	chr5:92013709-92013710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559835018	chr5:92013740-92013741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544809381	chr5:92013759-92013760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150654829	chr5:92013806-92013807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369902171	chr5:92013930-92013931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542819792	chr5:92013967-92013968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75412050	chr5:92014062-92014063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116470633	chr5:92014073-92014074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187261337	chr5:92014121-92014122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192862990	chr5:92014127-92014128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531737644	chr5:92014145-92014146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533444317	chr5:92014236-92014237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184419241	chr5:92014239-92014240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92009200-92013600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:92009400-92013400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:92010600-92014400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:92011800-92012600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:92012200-92012800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:92012200-92013200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:92012400-92013000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:92012400-92013200	Enhancers	Brain Germinal Matrix	brain
9	chr5:92012600-92012800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:92012600-92015600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:92012600-92016000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:92012800-92014600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:92013200-92014200	Weak transcription	Brain Germinal Matrix	brain
14	chr5:92013400-92013800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:92013600-92023400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:92013800-92014800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:92014400-92014600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:92014400-92014600	Enhancers	Brain Germinal Matrix	brain
19	chr5:92014600-92014800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:92016000-92019000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:92017600-92024000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:92019000-92019800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:92021400-92021800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:92021600-92022000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:92021800-92022200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:92022000-92022200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:92022000-92023200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:92022000-92023200	Active TSS	Fetal Lung	lung
29	chr5:92022200-92022400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:92022200-92022400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:92022200-92022400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:92022400-92022600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:92022400-92023200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:92022400-92023600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:92022600-92023000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:92023000-92023800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:92023000-92024600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:92023200-92023600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:92023200-92023600	Enhancers	Fetal Kidney	kidney
40	chr5:92023200-92023600	Flanking Active TSS	Fetal Lung	lung
41	chr5:92023200-92023800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:92023200-92023800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:92023400-92023600	Enhancers	NHLF	lung
44	chr5:92023400-92023800	Enhancers	Liver	Liver
45	chr5:92023400-92024200	Active TSS	Brain Substantia Nigra	brain
46	chr5:92023400-92024400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:92023600-92023800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:92023600-92023800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:92023600-92023800	Flanking Active TSS	Fetal Kidney	kidney
50	chr5:92023600-92023800	Flanking Active TSS	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links