Variant report

Variant	nsv882406
Chromosome Location	chr5:97507280-97638743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:266)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr5:97628311-97628485	GM12878	blood:	n/a	n/a
2	CEBPB	chr5:97608531-97608770	IMR90	lung:	n/a	n/a
3	CEBPB	chr5:97597425-97597751	HepG2	liver:	n/a	chr5:97597602-97597615 chr5:97597603-97597614
4	CEBPB	chr5:97523691-97523908	A549	lung:	n/a	n/a
5	CEBPB	chr5:97608471-97608702	A549	lung:	n/a	n/a
6	CEBPB	chr5:97584633-97584906	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr5:97597480-97597748	IMR90	lung:	n/a	chr5:97597602-97597615 chr5:97597603-97597614
8	CEBPB	chr5:97540112-97540365	HepG2	liver:	n/a	chr5:97540239-97540250
9	CEBPB	chr5:97540115-97540315	A549	lung:	n/a	chr5:97540239-97540250
10	CEBPB	chr5:97635212-97636077	IMR90	lung:	n/a	chr5:97635412-97635425
11	CEBPB	chr5:97584522-97585081	IMR90	lung:	n/a	n/a
12	CEBPB	chr5:97523617-97523994	IMR90	lung:	n/a	n/a
13	CTCF	chr5:97571177-97571209	GM20000	blood:	n/a	n/a
14	CTCF	chr5:97595820-97595970	SAEC	small airway:	n/a	n/a
15	CTCF	chr5:97611700-97611850	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr5:97611780-97611930	GM12873	blood:	n/a	n/a
17	CTCF	chr5:97611760-97611910	HepG2	liver:	n/a	n/a
18	CTCF	chr5:97552580-97552730	HMEC	breast:	n/a	n/a
19	CTCF	chr5:97552660-97552810	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr5:97611720-97611870	HRE	kidney:	n/a	n/a
21	CTCF	chr5:97611700-97611850	HRE	kidney:	n/a	n/a
22	CTCF	chr5:97611700-97611850	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr5:97557914-97557941	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr5:97592080-97592230	RPTEC	kidney:	n/a	n/a
25	CTCF	chr5:97552560-97552710	HPF	lung:	n/a	n/a
26	CTCF	chr5:97552640-97552790	AG09319	gingival:	n/a	n/a
27	CTCF	chr5:97589958-97590290	GM12878	blood:	n/a	n/a
28	CTCF	chr5:97590080-97590230	HMEC	breast:	n/a	n/a
29	CTCF	chr5:97611780-97611930	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr5:97611700-97611850	HMEC	breast:	n/a	n/a
31	CTCF	chr5:97552620-97552770	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr5:97552600-97552750	HEK293	kidney:	n/a	n/a
33	CTCF	chr5:97611720-97611870	NHEK	skin:	n/a	n/a
34	CTCF	chr5:97549671-97549705	GM20000	blood:	n/a	n/a
35	CTCF	chr5:97604560-97604710	HMEC	breast:	n/a	n/a
36	CTCF	chr5:97611780-97611930	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr5:97612000-97612150	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr5:97552620-97552770	HCFaa	heart:	n/a	n/a
39	CTCF	chr5:97590120-97590270	RPTEC	kidney:	n/a	n/a
40	CTCF	chr5:97611560-97611710	NHEK	skin:	n/a	n/a
41	CTCF	chr5:97611740-97611890	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr5:97552580-97552730	BE2_C	brain:	n/a	n/a
43	CTCF	chr5:97516538-97516662	GM12892	blood:	n/a	n/a
44	CTCF	chr5:97611720-97611870	AG04450	lung:	n/a	n/a
45	CTCF	chr5:97611900-97612050	RPTEC	kidney:	n/a	n/a
46	CTCF	chr5:97611740-97611890	HCFaa	heart:	n/a	n/a
47	CTCF	chr5:97590040-97590190	HMEC	breast:	n/a	n/a
48	CTCF	chr5:97552600-97552750	SAEC	small airway:	n/a	n/a
49	CTCF	chr5:97552640-97552790	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr5:97550667-97550740	IMR90	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:97546193..97548925-chr5:97549441..97552160,2	K562	blood:
2	chr5:97615949..97618290-chr5:97620124..97621957,2	MCF-7	breast:
3	chr5:97535739..97538570-chr5:97541760..97544389,2	K562	blood:
4	chr5:97615949..97618290-chr5:97620124..97621957,2	MCF-7	breast:
5	chr5:97593547..97596828-chr5:97596937..97599291,3	K562	blood:
6	chr5:97535739..97538570-chr5:97541760..97544389,2	K562	blood:
7	chr5:97521008..97523916-chr5:97529057..97531855,2	MCF-7	breast:
8	chr5:97593547..97596828-chr5:97596937..97599291,3	K562	blood:
9	chr5:97546193..97548925-chr5:97549441..97552160,2	K562	blood:
10	chr5:97521008..97523916-chr5:97529057..97531855,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMB-7	chr5:97540456-97540897	NONHSAT102941
2	lnc-RGMB-7	chr5:97538763-97538843	NONHSAT102941

No data

Variant related genes	Relation type
ENSG00000249135	TF binding region
ENSG00000238000	TF binding region
AQP1	miRNA target sites
SEC14L1	miRNA target sites

Extended variants
information (count: 4930 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:4930 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12521722	chr5:97507280-97507281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs62366796	chr5:97507298-97507299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147700146	chr5:97507368-97507369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140980477	chr5:97507376-97507377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150210942	chr5:97507427-97507428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554791838	chr5:97507474-97507475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573082215	chr5:97507479-97507480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73775166	chr5:97507505-97507506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138734350	chr5:97507556-97507557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184725484	chr5:97507592-97507593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544228262	chr5:97507618-97507619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562420376	chr5:97507635-97507636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73775167	chr5:97507661-97507662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542048642	chr5:97507667-97507668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560690100	chr5:97507821-97507822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553547767	chr5:97507881-97507882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115859313	chr5:97507911-97507912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370037317	chr5:97507949-97507950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546682707	chr5:97507962-97507963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546055550	chr5:97508005-97508006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573329181	chr5:97508050-97508051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78321938	chr5:97508051-97508052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531578030	chr5:97508069-97508070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550197334	chr5:97508072-97508073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373831860	chr5:97508100-97508101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77974887	chr5:97508119-97508120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529350153	chr5:97508126-97508127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547574977	chr5:97508132-97508133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545177047	chr5:97508152-97508153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148917549	chr5:97508213-97508214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201010206	chr5:97508226-97508227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558873513	chr5:97508240-97508241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570787727	chr5:97508250-97508251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537438612	chr5:97508255-97508256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556165043	chr5:97508276-97508277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112065809	chr5:97508283-97508284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188314925	chr5:97508294-97508295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138474448	chr5:97508350-97508351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572292114	chr5:97508368-97508369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4490612	chr5:97508370-97508371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564439641	chr5:97508423-97508424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532074471	chr5:97508427-97508428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543771952	chr5:97508455-97508456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371449410	chr5:97508465-97508466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562070741	chr5:97508509-97508510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181016565	chr5:97508538-97508539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374384041	chr5:97508555-97508556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529290509	chr5:97508597-97508598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368469678	chr5:97508605-97508606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547833843	chr5:97508615-97508616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97506800-97513200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97507200-97511000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:97508400-97509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:97508800-97509600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:97508800-97509600	Enhancers	HSMM	muscle
6	chr5:97508800-97509800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:97508800-97510000	Enhancers	NHDF-Ad	bronchial
8	chr5:97509000-97509600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:97509000-97509600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:97509000-97509600	Enhancers	NHEK	skin
11	chr5:97509000-97509600	Enhancers	NHLF	lung
12	chr5:97509000-97509600	Enhancers	Osteobl	bone
13	chr5:97509000-97510000	Enhancers	HMEC	breast
14	chr5:97509200-97510000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:97509400-97509600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:97509600-97515800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:97509600-97517800	Weak transcription	NHLF	lung
18	chr5:97509600-97523600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:97510000-97511200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:97511000-97511200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:97511200-97515600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:97513200-97513600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:97513600-97514600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:97514400-97515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:97514600-97515800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:97515600-97515800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:97515600-97516000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:97515600-97516000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr5:97515600-97516000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:97515600-97516800	Enhancers	HMEC	breast
31	chr5:97515600-97516800	Enhancers	NHEK	skin
32	chr5:97515800-97516400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:97515800-97516800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:97515800-97517000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:97516000-97516200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:97516000-97516400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:97516200-97516800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:97516400-97516800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:97516400-97516800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:97516800-97517400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:97517000-97523400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:97520000-97520800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:97520800-97521800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:97521800-97524400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:97522000-97522200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:97522400-97523600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:97523400-97524200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr5:97523400-97524200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:97523400-97524600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:97523600-97524000	Enhancers	HMEC	breast

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