Variant report

Variant	nsv1029815
Chromosome Location	chr5:97485129-97563112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:167)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:167 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:97540115-97540315	A549	lung:	n/a	chr5:97540239-97540250
2	CEBPB	chr5:97523617-97523994	IMR90	lung:	n/a	n/a
3	CEBPB	chr5:97523691-97523908	A549	lung:	n/a	n/a
4	CEBPB	chr5:97540112-97540365	HepG2	liver:	n/a	chr5:97540239-97540250
5	CTCF	chr5:97552640-97552790	HMF	breast:	n/a	n/a
6	CTCF	chr5:97552600-97552750	SAEC	small airway:	n/a	n/a
7	CTCF	chr5:97552560-97552710	HPF	lung:	n/a	n/a
8	CTCF	chr5:97493200-97493326	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr5:97516538-97516662	GM12892	blood:	n/a	n/a
10	CTCF	chr5:97552640-97552790	AG09319	gingival:	n/a	n/a
11	CTCF	chr5:97493140-97493290	HCM	heart:	n/a	n/a
12	CTCF	chr5:97493182-97493383	MCF-7	breast:	n/a	n/a
13	CTCF	chr5:97493220-97493370	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr5:97493175-97493396	MCF-7	breast:	n/a	n/a
15	CTCF	chr5:97493176-97493401	MCF-7	breast:	n/a	n/a
16	CTCF	chr5:97493200-97493350	HCT-116	colon:	n/a	n/a
17	CTCF	chr5:97493198-97493342	GM19240	blood:	n/a	n/a
18	CTCF	chr5:97493200-97493350	MCF-7	breast:	n/a	n/a
19	CTCF	chr5:97552580-97552730	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr5:97550680-97550830	Caco-2	colon:	n/a	n/a
21	CTCF	chr5:97549671-97549705	GM20000	blood:	n/a	n/a
22	CTCF	chr5:97493160-97493310	GM12875	blood:	n/a	n/a
23	CTCF	chr5:97493180-97493330	GM12875	blood:	n/a	n/a
24	CTCF	chr5:97552660-97552810	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr5:97552640-97552790	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr5:97552600-97552750	HEK293	kidney:	n/a	n/a
27	CTCF	chr5:97552500-97552650	HAc	cerebellar:	n/a	n/a
28	CTCF	chr5:97552580-97552730	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr5:97493200-97493350	NB4	blood:	n/a	n/a
30	CTCF	chr5:97552580-97552730	HMEC	breast:	n/a	n/a
31	CTCF	chr5:97493160-97493310	MCF-7	breast:	n/a	n/a
32	CTCF	chr5:97493179-97493400	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:97550667-97550740	IMR90	lung:	n/a	n/a
34	CTCF	chr5:97517934-97517950	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr5:97516560-97516710	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr5:97493260-97493279	GM13977	blood:	n/a	n/a
37	CTCF	chr5:97493199-97493354	GM19239	blood:	n/a	n/a
38	CTCF	chr5:97557914-97557941	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr5:97552580-97552730	BE2_C	brain:	n/a	n/a
40	CTCF	chr5:97493260-97493410	HCM	heart:	n/a	n/a
41	CTCF	chr5:97552540-97552690	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr5:97552620-97552770	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr5:97552620-97552770	HCFaa	heart:	n/a	n/a
44	CTCF	chr5:97493190-97493387	MCF-7	breast:	n/a	n/a
45	CTCF	chr5:97493160-97493310	AoAF	blood vessel:	n/a	n/a
46	E2F4	chr5:97542010-97542265	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr5:97495064-97495202	MCF10A-Er-Src	breast:	n/a	n/a
48	EBF1	chr5:97499716-97499876	GM12878	blood:	n/a	chr5:97499814-97499825
49	EGR1	chr5:97552973-97553148	GM12878	blood:	n/a	chr5:97553065-97553076 chr5:97553061-97553075
50	ELK1	chr5:97508962-97509049	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:97546193..97548925-chr5:97549441..97552160,2	K562	blood:
2	chr5:97546193..97548925-chr5:97549441..97552160,2	K562	blood:
3	chr5:97535739..97538570-chr5:97541760..97544389,2	K562	blood:
4	chr5:97521008..97523916-chr5:97529057..97531855,2	MCF-7	breast:
5	chr5:97521008..97523916-chr5:97529057..97531855,2	MCF-7	breast:
6	chr5:97535739..97538570-chr5:97541760..97544389,2	K562	blood:
7	chr5:97490515..97493248-chr5:97494183..97497100,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHD1-2	chr5:97496010-97496123	XLOC_004935
2	lnc-RGMB-7	chr5:97540456-97540897	NONHSAT102941
3	lnc-CHD1-2	chr5:97496404-97496496	XLOC_004935
4	lnc-CHD1-2	chr5:97496651-97496897	XLOC_004935
5	lnc-RGMB-7	chr5:97538763-97538843	NONHSAT102941

No data

Variant related genes	Relation type
ENSG00000249135	TF binding region
ENSG00000248901	TF binding region
ENSG00000238000	TF binding region
ENSG00000248901	chromatin interactions
AQP1	miRNA target sites
SEC14L1	miRNA target sites
ACTR2	miRNA target sites
IKBKE	miRNA target sites

Extended variants
information (count: 2787 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2787 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6890681	chr5:97485129-97485130	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191016226	chr5:97485151-97485152	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573885126	chr5:97485156-97485157	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370519512	chr5:97485298-97485299	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534305840	chr5:97485310-97485311	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4631199	chr5:97485314-97485315	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577295349	chr5:97485318-97485319	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574675059	chr5:97485348-97485349	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544737138	chr5:97485359-97485360	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6895506	chr5:97485361-97485362	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547230381	chr5:97485388-97485389	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575721034	chr5:97485466-97485467	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543209303	chr5:97485487-97485488	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371134445	chr5:97485501-97485502	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71636326	chr5:97485503-97485504	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144150780	chr5:97485505-97485506	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201303483	chr5:97485506-97485507	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201170871	chr5:97485507-97485508	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146410235	chr5:97485510-97485511	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34194166	chr5:97485513-97485514	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571656560	chr5:97485547-97485548	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147659651	chr5:97485676-97485677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs74913920	chr5:97485692-97485693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs368063169	chr5:97485695-97485696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs528835071	chr5:97485698-97485699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs6896203	chr5:97485745-97485746	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs71636327	chr5:97485748-97485749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs112879970	chr5:97485750-97485751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs565309838	chr5:97485759-97485760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs532638641	chr5:97485787-97485788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs73775149	chr5:97485820-97485821	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569357408	chr5:97485822-97485823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs59817354	chr5:97485853-97485854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs150611561	chr5:97485910-97485911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375686360	chr5:97485919-97485920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs549198620	chr5:97485954-97485955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs567443762	chr5:97486001-97486002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs183105787	chr5:97486066-97486067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs12517880	chr5:97486070-97486071	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs552534157	chr5:97486116-97486117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564095601	chr5:97486159-97486160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs139675338	chr5:97486198-97486199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs115623599	chr5:97486208-97486209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs35343587	chr5:97486209-97486210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs533868991	chr5:97486270-97486271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553735367	chr5:97486271-97486272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs575306825	chr5:97486277-97486278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs144948793	chr5:97486291-97486292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs147944671	chr5:97486299-97486300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs573556698	chr5:97486339-97486340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97483400-97485600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97485600-97487400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:97487400-97488600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:97487400-97499600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:97488600-97489400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:97489400-97491400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:97491400-97492200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:97491600-97492200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:97492200-97498200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:97495800-97498200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:97496400-97498000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:97498200-97498600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:97498200-97499600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:97498600-97504600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:97499600-97500000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:97499600-97500000	Enhancers	Brain Cingulate Gyrus	brain
17	chr5:97499600-97500000	Enhancers	Brain Hippocampus Middle	brain
18	chr5:97499600-97500000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:97499600-97500000	Enhancers	Brain Substantia Nigra	brain
20	chr5:97500000-97502000	Weak transcription	Brain Substantia Nigra	brain
21	chr5:97504600-97505000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:97505000-97505800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:97505800-97506400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:97506400-97506600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:97506400-97507200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:97506600-97506800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:97506800-97513200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:97507200-97511000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:97508400-97509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:97508800-97509600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:97508800-97509600	Enhancers	HSMM	muscle
32	chr5:97508800-97509800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:97508800-97510000	Enhancers	NHDF-Ad	bronchial
34	chr5:97509000-97509600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:97509000-97509600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:97509000-97509600	Enhancers	NHEK	skin
37	chr5:97509000-97509600	Enhancers	NHLF	lung
38	chr5:97509000-97509600	Enhancers	Osteobl	bone
39	chr5:97509000-97510000	Enhancers	HMEC	breast
40	chr5:97509200-97510000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:97509400-97509600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:97509600-97515800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:97509600-97517800	Weak transcription	NHLF	lung
44	chr5:97509600-97523600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:97510000-97511200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:97511000-97511200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:97511200-97515600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:97513200-97513600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:97513600-97514600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:97514400-97515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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