Variant report

Variant	nsv1024978
Chromosome Location	chr5:91991039-92033685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:331)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:331 , 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	BATF	chr5:92001332-92001541	GM12878	blood:	n/a	n/a
3	BCL3	chr5:92011776-92012032	GM12878	blood:	n/a	n/a
4	BRCA1	chr5:91994347-91994350	GM12878	blood:	n/a	n/a
5	CEBPB	chr5:92005695-92005840	K562	blood:	n/a	chr5:92005743-92005754
6	CEBPB	chr5:92003993-92004119	A549	lung:	n/a	n/a
7	CEBPB	chr5:92005614-92005897	HepG2	liver:	n/a	chr5:92005743-92005754
8	CEBPB	chr5:92005645-92005886	H1-hESC	embryonic stem cell:	n/a	chr5:92005743-92005754
9	CEBPB	chr5:92005582-92005903	A549	lung:	n/a	chr5:92005743-92005754
10	CEBPB	chr5:92005577-92005902	IMR90	lung:	n/a	chr5:92005743-92005754
11	CEBPB	chr5:91992864-91993062	A549	lung:	n/a	n/a
12	CEBPB	chr5:92031190-92031381	HepG2	liver:	n/a	n/a
13	CREB1	chr5:92014384-92014574	A549	lung:	n/a	n/a
14	CTCF	chr5:92014380-92014530	HAc	cerebellar:	n/a	n/a
15	CTCF	chr5:92014340-92014490	HRE	kidney:	n/a	n/a
16	CTCF	chr5:92014400-92014550	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr5:92014300-92014450	HVMF	connective:	n/a	n/a
18	CTCF	chr5:92014360-92014510	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr5:92014373-92014590	ProgFib	skin:	n/a	n/a
20	CTCF	chr5:92014340-92014490	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr5:92014400-92014550	HFF	foreskin:	n/a	n/a
22	CTCF	chr5:92014400-92014550	Caco-2	colon:	n/a	n/a
23	CTCF	chr5:92014182-92014856	A549	lung:	n/a	n/a
24	CTCF	chr5:92014360-92014510	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr5:92014395-92014588	MCF-7	breast:	n/a	n/a
26	CTCF	chr5:92014420-92014570	AG04450	lung:	n/a	n/a
27	CTCF	chr5:92023906-92024016	GM12878	blood:	n/a	n/a
28	CTCF	chr5:92014384-92014579	MCF-7	breast:	n/a	n/a
29	CTCF	chr5:92014436-92014500	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr5:92014400-92014550	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr5:92023920-92024070	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr5:92023880-92024030	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr5:92023872-92024049	MCF-7	breast:	n/a	n/a
34	CTCF	chr5:92023969-92023982	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr5:92014340-92014490	GM12875	blood:	n/a	n/a
36	CTCF	chr5:92014437-92014551	NHEK	skin:	n/a	n/a
37	CTCF	chr5:92014420-92014570	MCF-7	breast:	n/a	n/a
38	CTCF	chr5:92023909-92023966	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr5:92023840-92023990	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr5:92023880-92024030	Caco-2	colon:	n/a	n/a
41	CTCF	chr5:92023940-92024090	HRE	kidney:	n/a	n/a
42	CTCF	chr5:92014340-92014490	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr5:92014420-92014570	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr5:92023609-92024316	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr5:92014400-92014550	GM12865	blood:	n/a	n/a
46	CTCF	chr5:92014373-92014588	A549	lung:	n/a	n/a
47	CTCF	chr5:92014413-92014565	Medullo	brain:	n/a	n/a
48	CTCF	chr5:92014460-92014610	AG04450	lung:	n/a	n/a
49	CTCF	chr5:92023860-92024010	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr5:92014359-92014524	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

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

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM172A-5	chr5:92011663-92012257	XLOC_004927
2	lnc-FAM172A-7	chr5:91996437-91996570	XLOC_004925
3	lnc-NR2F1-4	chr5:92005579-92006441	XLOC_004472
4	lnc-FAM172A-5	chr5:92023827-92023961	XLOC_004927
5	lnc-FAM172A-6	chr5:92005457-92005603	XLOC_004926
6	lnc-NR2F1-4	chr5:92014438-92014848	XLOC_004472
7	lnc-NR2F1-4	chr5:92005577-92005737	XLOC_004472
8	lnc-FAM172A-6	chr5:92007191-92007287	XLOC_004926

No data

Variant related genes	Relation type
ENSG00000249984	TF binding region
ENSG00000249169	TF binding region
ENSG00000249776	TF binding region
CCNE1	miRNA target sites
CCNE2	miRNA target sites
SYPL1	miRNA target sites

Extended variants
information (count: 1322 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1322 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369524837	chr5:91991050-91991051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569315161	chr5:91991052-91991053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185911324	chr5:91991053-91991054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558313329	chr5:91991077-91991078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578160743	chr5:91991136-91991137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572958365	chr5:91991201-91991202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540786055	chr5:91991245-91991246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554081202	chr5:91991291-91991292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574227224	chr5:91991319-91991320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565558835	chr5:91991420-91991421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542994382	chr5:91991467-91991468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143678953	chr5:91991481-91991482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531239723	chr5:91991495-91991496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544680210	chr5:91991519-91991520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188765477	chr5:91991521-91991522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13361008	chr5:91991547-91991548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140662098	chr5:91991555-91991556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115886308	chr5:91991594-91991595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143839125	chr5:91991598-91991599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181553482	chr5:91991617-91991618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10476539	chr5:91991628-91991629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs185619539	chr5:91991647-91991648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10476540	chr5:91991677-91991678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10476644	chr5:91991729-91991730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558197056	chr5:91991762-91991763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545239110	chr5:91991840-91991841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534034543	chr5:91991901-91991902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78057753	chr5:91991986-91991987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574193538	chr5:91992029-91992030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536935710	chr5:91992048-91992049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191106194	chr5:91992082-91992083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576349487	chr5:91992084-91992085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370228957	chr5:91992147-91992148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77149230	chr5:91992203-91992204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564543059	chr5:91992227-91992228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572103961	chr5:91992391-91992392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182953444	chr5:91992394-91992395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561123569	chr5:91992422-91992423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141071350	chr5:91992452-91992453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1910057	chr5:91992467-91992468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563542420	chr5:91992476-91992477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563624660	chr5:91992534-91992535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551751075	chr5:91992540-91992541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565043835	chr5:91992600-91992601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150302230	chr5:91992601-91992602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386690084	chr5:91992606-91992607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12332712	chr5:91992607-91992608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373360004	chr5:91992609-91992610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137893777	chr5:91992621-91992622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143557697	chr5:91992729-91992730	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:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91988600-92003000	Weak transcription	Fetal Lung	lung
2	chr5:91995200-91995600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr5:91995400-91995600	Enhancers	Fetal Kidney	kidney
4	chr5:91995800-91998200	Weak transcription	Fetal Kidney	kidney
5	chr5:91998200-91998800	Enhancers	Fetal Kidney	kidney
6	chr5:91998400-91998800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:91998400-92000000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:91998800-91999600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:91999600-91999800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:91999800-92000000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:91999800-92000000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:92000000-92003000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:92000000-92007200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:92003000-92003200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:92003000-92005600	Strong transcription	Fetal Lung	lung
16	chr5:92004400-92005800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:92005600-92010400	Weak transcription	Fetal Lung	lung
18	chr5:92005800-92008400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:92007200-92007400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:92007400-92011800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:92008200-92008400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:92008400-92008600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:92008400-92009800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:92008600-92009400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:92009200-92013600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:92009400-92009800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:92009400-92013400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:92009600-92010200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:92009800-92010200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:92009800-92010200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:92009800-92010200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:92009800-92010600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:92009800-92010600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:92010000-92010400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:92010000-92010400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:92010000-92010400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:92010200-92011000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:92010200-92011800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:92010200-92012200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr5:92010200-92012200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:92010600-92012400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:92010600-92014400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:92011000-92012400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:92011800-92012000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:92011800-92012600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:92012200-92012800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:92012200-92013200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr5:92012400-92013000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:92012400-92013200	Enhancers	Brain Germinal Matrix	brain
50	chr5:92012600-92012800	Enhancers	HUES64 Cell Line	embryonic stem cell

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