Variant report

Variant	nsv981936
Chromosome Location	chr8:49296803-49297710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:62)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr8:49296976-49297189	K562	blood:	n/a	chr8:49297101-49297111 chr8:49297101-49297115 chr8:49297099-49297119 chr8:49297097-49297111

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:49297111-49297161	CMK	blood:	n/a
2	chr8:49297111-49297161	CMK	blood:	n/a
3	chr8:49297111-49297161	PFSK-1	brain:	n/a
4	chr8:49297111-49297161	SK-N-SH	brain:	n/a
5	chr8:49297111-49297161	AG09309	skin:	n/a
6	chr8:49297111-49297161	HCM	heart:	n/a
7	chr8:49297111-49297161	AG10803	skin:	n/a
8	chr8:49297111-49297161	SK-N-MC	brain:	n/a
9	chr8:49297111-49297161	NHDF-neo	bronchial:	n/a
10	chr8:49297111-49297161	SKMC	muscle:	n/a
11	chr8:49297111-49297161	GM12891	blood:	n/a
12	chr8:49297111-49297161	HRCEpiC	kidney:	n/a
13	chr8:49297111-49297161	GM06990	blood:	n/a
14	chr8:49297111-49297161	H1-hESC	embryonic stem cell:	embryo
15	chr8:49297111-49297161	HAEpiC	amniotic membrane:	n/a
16	chr8:49297111-49297161	NH-A	brain:	n/a
17	chr8:49297111-49297161	LNCaP	prostate:	n/a
18	chr8:49297111-49297161	MCF-7	breast:	n/a
19	chr8:49297111-49297161	Hela-S3	cervix:	n/a
20	chr8:49297111-49297161	GM19239	blood:	n/a
21	chr8:49297111-49297161	NT2-D1	testis:	n/a
22	chr8:49297111-49297161	AG04450	lung:	fetal
23	chr8:49297111-49297161	HMEC	breast:	n/a
24	chr8:49297111-49297161	MCF10A-Er-Src	breast:	n/a
25	chr8:49297111-49297161	GM12892	blood:	n/a
26	chr8:49297111-49297161	GM12878	blood:	n/a
27	chr8:49297111-49297161	PrEC	prostate:	n/a
28	chr8:49297111-49297161	AoSMC	blood vessel:	n/a
29	chr8:49297111-49297161	HRPEpiC	eye:	n/a
30	chr8:49297111-49297161	RPTEC	kidney:	n/a
31	chr8:49297111-49297161	Jurkat	blood:	n/a
32	chr8:49297111-49297161	NHBE	bronchial:	n/a
33	chr8:49297111-49297161	HNPCEpiC	eye:	n/a
34	chr8:49297111-49297161	HCPEpiC	choroid plexus:	n/a
35	chr8:49297111-49297161	HCT-116	colon:	n/a
36	chr8:49297111-49297161	ECC-1	luminal epithelium:	n/a
37	chr8:49297111-49297161	AG09319	gingival:	n/a
38	chr8:49297111-49297161	HRE	kidney:	n/a
39	chr8:49297111-49297161	SK-N-SH_RA	brain:	n/a
40	chr8:49297111-49297161	HEK293	kidney:	embryo
41	chr8:49297111-49297161	Caco-2	colon:	n/a
42	chr8:49297111-49297161	IMR90	lung:	fetal
43	chr8:49297111-49297161	BE2_C	brain:	n/a
44	chr8:49297111-49297161	PANC-1	pancreas:	n/a
45	chr8:49297111-49297161	T-47D	breast:	n/a
46	chr8:49297111-49297161	A549	lung:	n/a
47	chr8:49297111-49297161	U87	brain:	n/a
48	chr8:49297111-49297161	HepG2	liver:	n/a
49	chr8:49297111-49297161	K562	blood:	n/a
50	chr8:49297111-49297161	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49295197..49297090-chr8:49308933..49311651,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2V2-3	chr8:49297150-49297609	NONHSAT126477

No data

Variant related genes	Relation type
RPL29P19	TF binding region
RPL29P19	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544342680	chr8:49296845-49296846	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562919725	chr8:49296855-49296856	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6989759	chr8:49296878-49296879	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190880374	chr8:49296937-49296938	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76638762	chr8:49297031-49297032	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs13269972	chr8:49297053-49297054	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs150647520	chr8:49297121-49297122	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs183906760	chr8:49297122-49297123	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs140873706	chr8:49297124-49297125	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs531708183	chr8:49297135-49297136	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs189051843	chr8:49297182-49297183	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs530023201	chr8:49297220-49297221	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs552771276	chr8:49297260-49297261	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs568940780	chr8:49297265-49297266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs373692122	chr8:49297311-49297312	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs529852730	chr8:49297427-49297428	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs548050017	chr8:49297442-49297443	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs191759529	chr8:49297444-49297445	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs143223740	chr8:49297466-49297467	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs34639799	chr8:49297467-49297468	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs147534089	chr8:49297469-49297470	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs60565709	chr8:49297505-49297506	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537530413	chr8:49297506-49297507	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs182844635	chr8:49297507-49297508	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs575059055	chr8:49297521-49297522	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs542446157	chr8:49297531-49297532	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs554465025	chr8:49297532-49297533	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs572766492	chr8:49297546-49297547	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs76970167	chr8:49297549-49297550	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs564300164	chr8:49297577-49297578	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs187267791	chr8:49297661-49297662	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541439688	chr8:49297673-49297674	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49293800-49303000	Weak transcription	Aorta	Aorta
2	chr8:49294600-49308400	Weak transcription	Fetal Lung	lung
3	chr8:49294800-49297400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:49294800-49302400	Weak transcription	HSMMtube	muscle
5	chr8:49294800-49308800	Weak transcription	NHLF	lung
6	chr8:49294800-49309600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:49295000-49297000	Weak transcription	Fetal Stomach	stomach
8	chr8:49295000-49298200	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr8:49295000-49309000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:49295200-49297000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:49296000-49299600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:49296200-49297800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:49296400-49297000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr8:49296400-49297000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:49296400-49297200	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr8:49296400-49297800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:49296400-49297800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:49296400-49297800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:49296600-49297800	Strong transcription	NHDF-Ad	bronchial
20	chr8:49296600-49297800	Strong transcription	Osteobl	bone
21	chr8:49296800-49297600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:49297000-49297600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:49297000-49297800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:49297000-49297800	ZNF genes & repeats	Fetal Stomach	stomach
25	chr8:49297200-49302200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:49297400-49297600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:49297600-49302200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:49297600-49302800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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