Variant report

Variant	nsv818360
Chromosome Location	chr5:97447595-97557817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:338)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:338 , 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	CEBPB	chr5:97540115-97540315	A549	lung:	n/a	chr5:97540239-97540250
2	CEBPB	chr5:97462762-97462813	HepG2	liver:	n/a	chr5:97462789-97462800
3	CEBPB	chr5:97523617-97523994	IMR90	lung:	n/a	n/a
4	CEBPB	chr5:97540112-97540365	HepG2	liver:	n/a	chr5:97540239-97540250
5	CEBPB	chr5:97523691-97523908	A549	lung:	n/a	n/a
6	CTCF	chr5:97458740-97458890	GM12878	blood:	n/a	n/a
7	CTCF	chr5:97493180-97493330	GM12875	blood:	n/a	n/a
8	CTCF	chr5:97447540-97447690	HAc	cerebellar:	n/a	n/a
9	CTCF	chr5:97457280-97457430	GM12868	blood:	n/a	n/a
10	CTCF	chr5:97493160-97493310	MCF-7	breast:	n/a	n/a
11	CTCF	chr5:97457393-97457516	K562	blood:	n/a	n/a
12	CTCF	chr5:97457360-97457510	HMEC	breast:	n/a	n/a
13	CTCF	chr5:97457360-97457510	MCF-7	breast:	n/a	n/a
14	CTCF	chr5:97457420-97457570	GM12866	blood:	n/a	n/a
15	CTCF	chr5:97457403-97457506	GM12878	blood:	n/a	n/a
16	CTCF	chr5:97493176-97493401	MCF-7	breast:	n/a	n/a
17	CTCF	chr5:97493200-97493326	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr5:97447500-97447650	SAEC	small airway:	n/a	n/a
19	CTCF	chr5:97550680-97550830	Caco-2	colon:	n/a	n/a
20	CTCF	chr5:97457380-97457530	GM12867	blood:	n/a	n/a
21	CTCF	chr5:97457360-97457510	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr5:97458760-97458910	HFF	foreskin:	n/a	n/a
23	CTCF	chr5:97447500-97447650	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr5:97457360-97457510	HEK293	kidney:	n/a	n/a
25	CTCF	chr5:97447520-97447670	HepG2	liver:	n/a	n/a
26	CTCF	chr5:97458820-97458970	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr5:97447500-97447650	NHEK	skin:	n/a	n/a
28	CTCF	chr5:97458760-97458910	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr5:97447480-97447630	HEK293	kidney:	n/a	n/a
30	CTCF	chr5:97457378-97457488	MCF-7	breast:	n/a	n/a
31	CTCF	chr5:97457400-97457550	GM12873	blood:	n/a	n/a
32	CTCF	chr5:97493175-97493396	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:97493260-97493279	GM13977	blood:	n/a	n/a
34	CTCF	chr5:97450007-97450030	GM20000	blood:	n/a	n/a
35	CTCF	chr5:97457340-97457490	HEK293	kidney:	n/a	n/a
36	CTCF	chr5:97517934-97517950	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr5:97447480-97447630	MCF-7	breast:	n/a	n/a
38	CTCF	chr5:97457421-97457425	GM19238	blood:	n/a	n/a
39	CTCF	chr5:97493220-97493370	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr5:97457422-97457468	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:97458780-97458930	HMF	breast:	n/a	n/a
42	CTCF	chr5:97447520-97447670	HMEC	breast:	n/a	n/a
43	CTCF	chr5:97552660-97552810	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr5:97447520-97447670	AG09319	gingival:	n/a	n/a
45	CTCF	chr5:97552640-97552790	HMF	breast:	n/a	n/a
46	CTCF	chr5:97493200-97493350	NB4	blood:	n/a	n/a
47	CTCF	chr5:97447560-97447710	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr5:97458780-97458930	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr5:97457320-97457470	K562	blood:	n/a	n/a
50	CTCF	chr5:97447480-97447630	AG09319	gingival:	n/a	n/a

No data

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

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

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

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

No data

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

Extended variants
information (count: 4526 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:4526 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1559054	chr5:97447595-97447596	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10055416	chr5:97447610-97447611	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs372675307	chr5:97447613-97447614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541545125	chr5:97447713-97447714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570281438	chr5:97447725-97447726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34859635	chr5:97447743-97447744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377298232	chr5:97447747-97447748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555439747	chr5:97447766-97447767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573999129	chr5:97447801-97447802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139089414	chr5:97447806-97447807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553057795	chr5:97447817-97447818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115851665	chr5:97447845-97447846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149890056	chr5:97447886-97447887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112938661	chr5:97447897-97447898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1124028	chr5:97447980-97447981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144880550	chr5:97447999-97448000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376760974	chr5:97448008-97448009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1421794	chr5:97448035-97448036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1421793	chr5:97448073-97448074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189383581	chr5:97448085-97448086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181241773	chr5:97448102-97448103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183879728	chr5:97448135-97448136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1421792	chr5:97448148-97448149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs552037861	chr5:97448167-97448168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570246207	chr5:97448226-97448227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71788840	chr5:97448247-97448248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367671970	chr5:97448250-97448251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369529486	chr5:97448254-97448255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549652598	chr5:97448279-97448280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372855789	chr5:97448297-97448298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376382596	chr5:97448304-97448305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7730814	chr5:97448334-97448335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181393773	chr5:97448348-97448349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186925146	chr5:97448370-97448371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571444539	chr5:97448403-97448404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6891842	chr5:97448435-97448436	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557641630	chr5:97448465-97448466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531478179	chr5:97448468-97448469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551078160	chr5:97448507-97448508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576190322	chr5:97448518-97448519	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4869397	chr5:97448545-97448546	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555675116	chr5:97448556-97448557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570982201	chr5:97448557-97448558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147842575	chr5:97448583-97448584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6892262	chr5:97448716-97448717	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559474945	chr5:97448807-97448808	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533023718	chr5:97448812-97448813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545109299	chr5:97448816-97448817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550200984	chr5:97448862-97448863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531143335	chr5:97448889-97448890	ZNF genes & repeats Weak transcription	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:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97440200-97447800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:97442200-97447600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:97443400-97447800	Enhancers	HMEC	breast
4	chr5:97445200-97447800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:97445400-97447600	Enhancers	NHDF-Ad	bronchial
6	chr5:97445400-97447800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:97445400-97447800	Enhancers	NHEK	skin
8	chr5:97445600-97447600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:97446400-97447800	Enhancers	NHLF	lung
10	chr5:97447200-97447600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:97447600-97480000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:97448400-97449400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:97448600-97449000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:97456600-97457000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:97457000-97460400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:97460400-97464800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:97464400-97464800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr5:97464400-97464800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr5:97464800-97473400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:97466400-97466800	Enhancers	NHDF-Ad	bronchial
21	chr5:97473400-97473600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:97478400-97480600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:97480000-97482000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:97480000-97482000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:97480000-97482200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:97480000-97482200	Enhancers	NHEK	skin
27	chr5:97480200-97480400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:97480400-97480800	Enhancers	HSMMtube	muscle
29	chr5:97480400-97481200	Enhancers	HMEC	breast
30	chr5:97480400-97481400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:97481200-97481600	Weak transcription	HMEC	breast
32	chr5:97481400-97481600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:97481400-97482200	Enhancers	Adipose Nuclei	Adipose
34	chr5:97481600-97482200	Enhancers	HMEC	breast
35	chr5:97481600-97483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:97482000-97482600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:97483400-97485600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:97485600-97487400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:97487400-97488600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:97487400-97499600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:97488600-97489400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:97489400-97491400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:97491400-97492200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:97491600-97492200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr5:97492200-97498200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:97495800-97498200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:97496400-97498000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:97498200-97498600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:97498200-97499600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:97498600-97504600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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