Variant report

Variant	nsv971650
Chromosome Location	chr8:48497808-48507906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:48501316-48501609	IMR90	lung:	n/a	chr8:48501484-48501495
2	CEBPB	chr8:48501463-48501545	H1-hESC	embryonic stem cell:	n/a	chr8:48501484-48501495
3	CEBPB	chr8:48501337-48501644	HepG2	liver:	n/a	chr8:48501484-48501495
4	CEBPB	chr8:48501324-48501652	K562	blood:	n/a	chr8:48501484-48501495
5	CEBPB	chr8:48501327-48501645	A549	lung:	n/a	chr8:48501484-48501495
6	CTCF	chr8:48502065-48502087	GM13976	blood:	n/a	n/a
7	E2F4	chr8:48506028-48506205	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr8:48501446-48501531	MCF10A-Er-Src	breast:	n/a	n/a
9	MAX	chr8:48506090-48506446	NB4	blood:	n/a	n/a
10	MYC	chr8:48506152-48506472	NB4	blood:	n/a	n/a
11	MYC	chr8:48506474-48506516	MCF-7	breast:	n/a	n/a
12	POLR2A	chr8:48504446-48504598	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr8:48499547-48499646	Gliobla	brain:	n/a	n/a
14	POLR2A	chr8:48506386-48506390	A549	lung:	n/a	n/a
15	POLR2A	chr8:48506337-48506340	A549	lung:	n/a	n/a
16	SPI1	chr8:48506137-48506682	HL-60	blood:	n/a	n/a
17	STAT3	chr8:48503339-48503362	GM12878	blood:	n/a	n/a
18	STAT3	chr8:48501358-48501558	MCF10A-Er-Src	breast:	n/a	chr8:48501457-48501468
19	STAT3	chr8:48501339-48501618	MCF10A-Er-Src	breast:	n/a	chr8:48501457-48501468

No.	Distal block	Cell Line	Cell type
1	chr8:48493147..48494925-chr8:48494980..48497854,3	MCF-7	breast:
2	chr8:48507124..48508721-chr8:48509922..48512866,2	MCF-7	breast:
3	chr8:48489915..48491427-chr8:48495181..48498031,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEBPD-2	chr8:48504709-48505171	NONHSAT126451

Variant related genes	Relation type
ENSG00000254065	TF binding region

Extended variants
information (count: 325 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530892426	chr8:48498009-48498010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535660529	chr8:48498034-48498035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62539115	chr8:48498039-48498040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs28758213	chr8:48498049-48498050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371391793	chr8:48498078-48498079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185577659	chr8:48498147-48498148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557720596	chr8:48498225-48498226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375795760	chr8:48498235-48498236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550523786	chr8:48498238-48498239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543660454	chr8:48498245-48498246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11987727	chr8:48498263-48498264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146910324	chr8:48498285-48498286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373115403	chr8:48498320-48498321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146183742	chr8:48498353-48498354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190057688	chr8:48498360-48498361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559727479	chr8:48498417-48498418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527379057	chr8:48498445-48498446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545964380	chr8:48498447-48498448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564031546	chr8:48498469-48498470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1906955	chr8:48498471-48498472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550071715	chr8:48498480-48498481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192300939	chr8:48498483-48498484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62539116	chr8:48498527-48498528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547566623	chr8:48498584-48498585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565775704	chr8:48498629-48498630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539879910	chr8:48498655-48498656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551462959	chr8:48498665-48498666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534085031	chr8:48498741-48498742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569683396	chr8:48498816-48498817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537060809	chr8:48498908-48498909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555378739	chr8:48498958-48498959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574255779	chr8:48499002-48499003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs137871439	chr8:48499046-48499047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553525121	chr8:48499054-48499055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34196860	chr8:48499063-48499064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578117544	chr8:48499162-48499163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545868674	chr8:48499175-48499176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564192281	chr8:48499205-48499206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72646363	chr8:48499226-48499227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184458087	chr8:48499256-48499257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561575938	chr8:48499294-48499295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188871170	chr8:48499300-48499301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547384575	chr8:48499361-48499362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538783372	chr8:48499362-48499363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561403145	chr8:48499370-48499371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559449053	chr8:48499455-48499456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374621096	chr8:48499476-48499477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149453770	chr8:48499478-48499479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181255364	chr8:48499551-48499552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143889119	chr8:48499552-48499553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	17142309	CNVD
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48466800-48522600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:48473000-48511400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:48480400-48503000	Weak transcription	Primary B cells from cord blood	blood
4	chr8:48481000-48503200	Weak transcription	Dnd41	blood
5	chr8:48481200-48513600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:48486400-48506200	Weak transcription	Pancreas	Pancrea
7	chr8:48496600-48499800	Weak transcription	Fetal Intestine Small	intestine
8	chr8:48496600-48506200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:48496600-48506200	Weak transcription	Lung	lung
10	chr8:48496600-48513400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:48498600-48522600	Weak transcription	Fetal Stomach	stomach
12	chr8:48500200-48511400	Weak transcription	Fetal Intestine Small	intestine
13	chr8:48502000-48510800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:48503000-48503400	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr8:48503000-48503400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr8:48503200-48503600	ZNF genes & repeats	Dnd41	blood
17	chr8:48503400-48504200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr8:48503400-48508200	Weak transcription	Primary B cells from cord blood	blood
19	chr8:48503600-48535000	Weak transcription	Dnd41	blood
20	chr8:48503800-48515600	Weak transcription	Fetal Intestine Large	intestine
21	chr8:48504000-48504400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr8:48504000-48507200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:48504200-48504800	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr8:48504400-48505200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr8:48504400-48511200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:48504600-48505200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:48504600-48505200	Enhancers	Osteobl	bone
28	chr8:48504800-48505200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr8:48504800-48511400	Weak transcription	Aorta	Aorta
30	chr8:48505000-48505200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:48505000-48505200	Enhancers	Adipose Nuclei	Adipose
32	chr8:48505000-48514800	Weak transcription	Thymus	Thymus
33	chr8:48505200-48506200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:48505200-48506200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr8:48505200-48506200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:48505200-48506600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr8:48505200-48511400	Weak transcription	Adipose Nuclei	Adipose
38	chr8:48505200-48512800	Weak transcription	Osteobl	bone
39	chr8:48505600-48506200	Weak transcription	Esophagus	oesophagus
40	chr8:48506200-48506400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:48506200-48506600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:48506200-48506600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:48506200-48506600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:48506200-48506600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr8:48506200-48506600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr8:48506200-48506600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:48506200-48506600	Genic enhancers	Esophagus	oesophagus
48	chr8:48506200-48506600	Enhancers	Placenta	Placenta
49	chr8:48506200-48506600	Enhancers	Lung	lung
50	chr8:48506200-48506600	Enhancers	Placenta Amnion	Placenta Amnion

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