Variant report

Variant	nsv462249
Chromosome Location	chr5:92008283-92054149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:313)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:313 , 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	BCL3	chr5:92011776-92012032	GM12878	blood:	n/a	n/a
3	CEBPB	chr5:92031190-92031381	HepG2	liver:	n/a	n/a
4	CEBPB	chr5:92044962-92044968	IMR90	lung:	n/a	n/a
5	CREB1	chr5:92014384-92014574	A549	lung:	n/a	n/a
6	CTCF	chr5:92023880-92024030	HMF	breast:	n/a	n/a
7	CTCF	chr5:92023765-92024152	HepG2	liver:	n/a	n/a
8	CTCF	chr5:92014353-92014608	MCF-7	breast:	n/a	n/a
9	CTCF	chr5:92023920-92024070	HFF-Myc	foreskin:	n/a	n/a
10	CTCF	chr5:92014376-92014525	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr5:92023940-92024090	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr5:92023860-92024010	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr5:92014372-92014550	T-47D	breast:	n/a	n/a
14	CTCF	chr5:92014340-92014490	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr5:92014340-92014490	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr5:92023703-92024099	A549	lung:	n/a	n/a
17	CTCF	chr5:92014440-92014590	AG10803	skin:	n/a	n/a
18	CTCF	chr5:92014340-92014490	GM12875	blood:	n/a	n/a
19	CTCF	chr5:92023860-92024010	NHLF	lung:	n/a	n/a
20	CTCF	chr5:92014460-92014610	AG04450	lung:	n/a	n/a
21	CTCF	chr5:92023860-92024010	BJ	skin:	n/a	n/a
22	CTCF	chr5:92014420-92014570	HCT-116	colon:	n/a	n/a
23	CTCF	chr5:92023833-92024110	Gliobla	brain:	n/a	n/a
24	CTCF	chr5:92023891-92024020	Pancreas_OC	pancreas:	n/a	n/a
25	CTCF	chr5:92023900-92024050	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr5:92023969-92023982	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr5:92023889-92024010	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr5:92023860-92024081	ProgFib	skin:	n/a	n/a
29	CTCF	chr5:92023880-92024030	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr5:92014360-92014510	HRE	kidney:	n/a	n/a
31	CTCF	chr5:92023880-92024030	SAEC	small airway:	n/a	n/a
32	CTCF	chr5:92023814-92024134	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr5:92023880-92024030	HMEC	breast:	n/a	n/a
34	CTCF	chr5:92014420-92014570	MCF-7	breast:	n/a	n/a
35	CTCF	chr5:92023873-92024052	HepG2	liver:	n/a	n/a
36	CTCF	chr5:92023880-92024030	BJ	skin:	n/a	n/a
37	CTCF	chr5:92014395-92014588	MCF-7	breast:	n/a	n/a
38	CTCF	chr5:92014420-92014570	HMF	breast:	n/a	n/a
39	CTCF	chr5:92014380-92014530	AG10803	skin:	n/a	n/a
40	CTCF	chr5:92014400-92014550	NHLF	lung:	n/a	n/a
41	CTCF	chr5:92014455-92014544	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr5:92014400-92014550	HFF	foreskin:	n/a	n/a
43	CTCF	chr5:92014360-92014510	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr5:92014400-92014550	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr5:92014400-92014550	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr5:92023880-92024030	Caco-2	colon:	n/a	n/a
47	CTCF	chr5:92014376-92014602	Gliobla	brain:	n/a	n/a
48	CTCF	chr5:92023880-92024030	AG04449	skin:	n/a	n/a
49	CTCF	chr5:92023779-92024160	GM12878	blood:	n/a	n/a
50	CTCF	chr5:92023940-92024090	AG04450	lung:	n/a	n/a

No data

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

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

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NR2F1-4	chr5:92014438-92014848	XLOC_004472
2	lnc-FAM172A-5	chr5:92011663-92012257	XLOC_004927
3	lnc-FAM172A-5	chr5:92023827-92023961	XLOC_004927

No data

Variant related genes	Relation type
ENSG00000249984	TF binding region
ENSG00000221810	TF binding region
CCNE2	miRNA target sites
CCNE1	miRNA target sites

Extended variants
information (count: 1192 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1192 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386690085	chr5:92008283-92008284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530016908	chr5:92008328-92008329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150699784	chr5:92008368-92008369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370353335	chr5:92008370-92008371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569290142	chr5:92008397-92008398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62368475	chr5:92008479-92008480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs62368476	chr5:92008483-92008484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551881511	chr5:92008484-92008485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182397846	chr5:92008531-92008532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552969076	chr5:92008554-92008555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185096216	chr5:92008568-92008569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189904432	chr5:92008569-92008570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567574772	chr5:92008578-92008579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536595983	chr5:92008628-92008629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549502259	chr5:92008666-92008667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566593031	chr5:92008691-92008692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375184945	chr5:92008836-92008837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1553320	chr5:92008853-92008854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199523580	chr5:92008932-92008933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182808887	chr5:92008960-92008961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572179793	chr5:92008969-92008970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114964461	chr5:92009053-92009054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188914709	chr5:92009234-92009235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373555188	chr5:92009248-92009249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4292437	chr5:92009257-92009258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543737612	chr5:92009293-92009294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4415060	chr5:92009307-92009308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562719994	chr5:92009331-92009332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576359393	chr5:92009341-92009342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545090649	chr5:92009406-92009407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564999825	chr5:92009407-92009408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527783486	chr5:92009422-92009423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193225757	chr5:92009442-92009443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561186476	chr5:92009468-92009469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530306583	chr5:92009469-92009470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112564104	chr5:92009474-92009475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570267341	chr5:92009485-92009486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34184002	chr5:92009495-92009496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113319811	chr5:92009522-92009523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1393213	chr5:92009599-92009600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565775141	chr5:92009697-92009698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139873370	chr5:92009699-92009700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554786431	chr5:92009821-92009822	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs10042848	chr5:92009827-92009828	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs143250501	chr5:92009886-92009887	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs545736507	chr5:92009890-92009891	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs555908425	chr5:92009891-92009892	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs10066714	chr5:92009896-92009897	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs540758938	chr5:92009897-92009898	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs577074356	chr5:92009906-92009907	Weak transcription Enhancers Flanking Active TSS	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:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92005600-92010400	Weak transcription	Fetal Lung	lung
2	chr5:92005800-92008400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:92007400-92011800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:92008200-92008400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:92008400-92008600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:92008400-92009800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:92008600-92009400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:92009200-92013600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:92009400-92009800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:92009400-92013400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:92009600-92010200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:92009800-92010200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:92009800-92010200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:92009800-92010200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:92009800-92010600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:92009800-92010600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:92010000-92010400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:92010000-92010400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:92010000-92010400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:92010200-92011000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:92010200-92011800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:92010200-92012200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:92010200-92012200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:92010600-92012400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:92010600-92014400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:92011000-92012400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:92011800-92012000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:92011800-92012600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:92012200-92012800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:92012200-92013200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:92012400-92013000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:92012400-92013200	Enhancers	Brain Germinal Matrix	brain
33	chr5:92012600-92012800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr5:92012600-92015600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:92012600-92016000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:92012800-92014600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:92013200-92014200	Weak transcription	Brain Germinal Matrix	brain
38	chr5:92013400-92013800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:92013600-92023400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:92013800-92014800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:92014400-92014600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:92014400-92014600	Enhancers	Brain Germinal Matrix	brain
43	chr5:92014600-92014800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:92016000-92019000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:92017600-92024000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr5:92019000-92019800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:92021400-92021800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:92021600-92022000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:92021800-92022200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:92022000-92022200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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