Variant report

Variant	nsv1033719
Chromosome Location	chr5:97446209-97557327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:386)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:97462762-97462813	HepG2	liver:	n/a	chr5:97462789-97462800
2	CEBPB	chr5:97445423-97446497	IMR90	lung:	n/a	chr5:97446047-97446060 chr5:97446049-97446060 chr5:97446049-97446060 chr5:97446047-97446060
3	CEBPB	chr5:97540112-97540365	HepG2	liver:	n/a	chr5:97540239-97540250
4	CEBPB	chr5:97540115-97540315	A549	lung:	n/a	chr5:97540239-97540250
5	CEBPB	chr5:97523691-97523908	A549	lung:	n/a	n/a
6	CEBPB	chr5:97523617-97523994	IMR90	lung:	n/a	n/a
7	CTCF	chr5:97447520-97447670	HMF	breast:	n/a	n/a
8	CTCF	chr5:97493180-97493330	GM12875	blood:	n/a	n/a
9	CTCF	chr5:97457440-97457590	A549	lung:	n/a	n/a
10	CTCF	chr5:97447504-97447650	NHEK	skin:	n/a	n/a
11	CTCF	chr5:97493182-97493383	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:97457320-97457470	GM12873	blood:	n/a	n/a
13	CTCF	chr5:97447520-97447670	GM12874	blood:	n/a	n/a
14	CTCF	chr5:97457353-97457546	HepG2	liver:	n/a	n/a
15	CTCF	chr5:97517934-97517950	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr5:97457373-97457517	HepG2	liver:	n/a	n/a
17	CTCF	chr5:97493160-97493310	MCF-7	breast:	n/a	n/a
18	CTCF	chr5:97457360-97457510	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr5:97458800-97458950	AG04450	lung:	n/a	n/a
20	CTCF	chr5:97550667-97550740	IMR90	lung:	n/a	n/a
21	CTCF	chr5:97447480-97447630	HEK293	kidney:	n/a	n/a
22	CTCF	chr5:97549671-97549705	GM20000	blood:	n/a	n/a
23	CTCF	chr5:97447440-97447590	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr5:97458680-97458830	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr5:97447520-97447670	HCFaa	heart:	n/a	n/a
26	CTCF	chr5:97447500-97447650	NHEK	skin:	n/a	n/a
27	CTCF	chr5:97447500-97447650	GM12865	blood:	n/a	n/a
28	CTCF	chr5:97457380-97457530	GM06990	blood:	n/a	n/a
29	CTCF	chr5:97458800-97458950	AG09319	gingival:	n/a	n/a
30	CTCF	chr5:97457340-97457490	HEK293	kidney:	n/a	n/a
31	CTCF	chr5:97493160-97493310	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr5:97552540-97552690	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr5:97457420-97457570	GM12864	blood:	n/a	n/a
34	CTCF	chr5:97457280-97457430	GM12874	blood:	n/a	n/a
35	CTCF	chr5:97457422-97457468	MCF-7	breast:	n/a	n/a
36	CTCF	chr5:97447500-97447650	HPF	lung:	n/a	n/a
37	CTCF	chr5:97458760-97458910	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr5:97457421-97457425	GM19238	blood:	n/a	n/a
39	CTCF	chr5:97458760-97458910	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr5:97457400-97457550	GM12870	blood:	n/a	n/a
41	CTCF	chr5:97457340-97457490	GM12870	blood:	n/a	n/a
42	CTCF	chr5:97457140-97457290	GM12870	blood:	n/a	n/a
43	CTCF	chr5:97457520-97457670	BE2_C	brain:	n/a	n/a
44	CTCF	chr5:97457280-97457430	GM12868	blood:	n/a	n/a
45	CTCF	chr5:97458820-97458970	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr5:97447540-97447690	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr5:97516538-97516662	GM12892	blood:	n/a	n/a
48	CTCF	chr5:97447520-97447670	HMEC	breast:	n/a	n/a
49	CTCF	chr5:97458780-97458930	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr5:97447480-97447630	HMEC	breast:	n/a	n/a

No data

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

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

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

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

No data

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

Extended variants
information (count: 4573 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:4573 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1421795	chr5:97446209-97446210	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182621135	chr5:97446239-97446240	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187572907	chr5:97446262-97446263	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535724351	chr5:97446270-97446271	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554487365	chr5:97446287-97446288	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572813456	chr5:97446317-97446318	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546537738	chr5:97446330-97446331	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149564897	chr5:97446367-97446368	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6859600	chr5:97446512-97446513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543858789	chr5:97446539-97446540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73147476	chr5:97446563-97446564	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574571556	chr5:97446565-97446566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541686785	chr5:97446584-97446585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571033502	chr5:97446589-97446590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527547005	chr5:97446596-97446597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192054831	chr5:97446680-97446681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570920991	chr5:97446707-97446708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531214739	chr5:97446804-97446805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1363142	chr5:97446816-97446817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568093548	chr5:97446826-97446827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560595852	chr5:97446827-97446828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1363141	chr5:97446840-97446841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547977578	chr5:97446848-97446849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566299609	chr5:97446900-97446901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570362580	chr5:97446910-97446911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6557035	chr5:97446928-97446929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7447176	chr5:97446936-97446937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139031102	chr5:97446954-97446955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117851022	chr5:97447013-97447014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537097229	chr5:97447024-97447025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142232147	chr5:97447059-97447060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184935724	chr5:97447070-97447071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541141029	chr5:97447194-97447195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146384083	chr5:97447205-97447206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536425574	chr5:97447299-97447300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139718265	chr5:97447308-97447309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188622516	chr5:97447376-97447377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368247109	chr5:97447405-97447406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193245755	chr5:97447410-97447411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531317417	chr5:97447415-97447416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549549121	chr5:97447481-97447482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372279558	chr5:97447493-97447494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184452774	chr5:97447507-97447508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142909842	chr5:97447562-97447563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547520445	chr5:97447570-97447571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150748428	chr5:97447585-97447586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111305269	chr5:97447592-97447593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1559054	chr5:97447595-97447596	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs10055416	chr5:97447610-97447611	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372675307	chr5:97447613-97447614	Enhancers 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:267 , 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	chr5:97442200-97446400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:97442200-97447600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:97443000-97447000	Enhancers	HUVEC	blood vessel
5	chr5:97443400-97447800	Enhancers	HMEC	breast
6	chr5:97445200-97446400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:97445200-97446400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:97445200-97447800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:97445400-97447000	Enhancers	HSMM	muscle
10	chr5:97445400-97447200	Enhancers	NH-A	brain
11	chr5:97445400-97447600	Enhancers	NHDF-Ad	bronchial
12	chr5:97445400-97447800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:97445400-97447800	Enhancers	NHEK	skin
14	chr5:97445600-97446800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:97445600-97447000	Enhancers	Osteobl	bone
16	chr5:97445600-97447600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:97445800-97446400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr5:97446000-97446400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:97446000-97446400	Enhancers	Fetal Lung	lung
20	chr5:97446000-97446400	Weak transcription	NHLF	lung
21	chr5:97446000-97446600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:97446200-97446400	Enhancers	Fetal Stomach	stomach
23	chr5:97446200-97447000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:97446400-97447200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:97446400-97447800	Enhancers	NHLF	lung
26	chr5:97447200-97447600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:97447600-97480000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:97448400-97449400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:97448600-97449000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:97456600-97457000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:97457000-97460400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:97460400-97464800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:97464400-97464800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:97464400-97464800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr5:97464800-97473400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:97466400-97466800	Enhancers	NHDF-Ad	bronchial
37	chr5:97473400-97473600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:97478400-97480600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:97480000-97482000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:97480000-97482000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:97480000-97482200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:97480000-97482200	Enhancers	NHEK	skin
43	chr5:97480200-97480400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:97480400-97480800	Enhancers	HSMMtube	muscle
45	chr5:97480400-97481200	Enhancers	HMEC	breast
46	chr5:97480400-97481400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:97481200-97481600	Weak transcription	HMEC	breast
48	chr5:97481400-97481600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:97481400-97482200	Enhancers	Adipose Nuclei	Adipose
50	chr5:97481600-97482200	Enhancers	HMEC	breast

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