Variant report

Variant	nsv8352
Chromosome Location	chr8:58169848-58174188
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr8:58170332-58170379	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr8:58171620-58171653	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:58172236-58172274	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:58170414-58170420	MCF-7	breast:	n/a	n/a
5	POLR2A	chr8:58172032-58172076	Gliobla	brain:	n/a	n/a
6	POLR2A	chr8:58172274-58172276	MCF-7	breast:	n/a	n/a
7	POLR2A	chr8:58170389-58170398	A549	lung:	n/a	n/a
8	POLR2A	chr8:58172667-58172749	MCF-7	breast:	n/a	n/a
9	POLR2A	chr8:58170312-58170412	MCF-7	breast:	n/a	n/a
10	POLR2A	chr8:58172756-58172829	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF263	chr8:58171306-58171703	HEK293-T-REx	kidney:	n/a	chr8:58171600-58171609 chr8:58171495-58171504

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:58172571-58172621	GM12891	blood:	n/a
2	chr8:58170951-58171001	AG09309	skin:	n/a
3	chr8:58173162-58173212	NB4	blood:	n/a
4	chr8:58170951-58171001	AG09319	gingival:	n/a
5	chr8:58173601-58173651	NH-A	brain:	n/a
6	chr8:58172855-58172905	SAEC	small airway:	n/a
7	chr8:58172855-58172905	NHDF-neo	bronchial:	n/a
8	chr8:58172855-58172905	PrEC	prostate:	n/a
9	chr8:58171766-58171816	NHBE	bronchial:	n/a
10	chr8:58170951-58171001	IMR90	lung:	fetal
11	chr8:58173601-58173651	BJ	skin:	n/a
12	chr8:58172643-58172693	SK-N-SH	brain:	n/a
13	chr8:58172643-58172693	HEEpiC	esophagus:	n/a
14	chr8:58173162-58173212	AG09309	skin:	n/a
15	chr8:58172571-58172621	AG09309	skin:	n/a
16	chr8:58173162-58173212	SK-N-SH_RA	brain:	n/a
17	chr8:58172855-58172905	HRCEpiC	kidney:	n/a
18	chr8:58172571-58172621	ECC-1	luminal epithelium:	n/a
19	chr8:58172855-58172905	HAEpiC	amniotic membrane:	n/a
20	chr8:58172571-58172621	CMK	blood:	n/a
21	chr8:58173162-58173212	CMK	blood:	n/a
22	chr8:58172643-58172693	SAEC	small airway:	n/a
23	chr8:58172571-58172621	PANC-1	pancreas:	n/a
24	chr8:58172571-58172621	PrEC	prostate:	n/a
25	chr8:58171766-58171816	HCF	heart:	n/a
26	chr8:58170951-58171001	GM19239	blood:	n/a
27	chr8:58172643-58172693	IMR90	lung:	fetal
28	chr8:58172643-58172693	Caco-2	colon:	n/a
29	chr8:58172855-58172905	SKMC	muscle:	n/a
30	chr8:58172643-58172693	HNPCEpiC	eye:	n/a
31	chr8:58172855-58172905	NT2-D1	testis:	n/a
32	chr8:58173601-58173651	A549	lung:	n/a
33	chr8:58172643-58172693	K562	blood:	n/a
34	chr8:58172855-58172905	Jurkat	blood:	n/a
35	chr8:58170951-58171001	GM12891	blood:	n/a
36	chr8:58172855-58172905	Hepatocyte	liver:	n/a
37	chr8:58171766-58171816	HPAEpiC	pulmonary alveolar:	n/a
38	chr8:58172643-58172693	GM06990	blood:	n/a
39	chr8:58173162-58173212	HCT-116	colon:	n/a
40	chr8:58172571-58172621	RPTEC	kidney:	n/a
41	chr8:58173601-58173651	PrEC	prostate:	n/a
42	chr8:58170951-58171001	BJ	skin:	n/a
43	chr8:58173601-58173651	HEK293	kidney:	embryo
44	chr8:58173601-58173651	HCM	heart:	n/a
45	chr8:58171766-58171816	HAEpiC	amniotic membrane:	n/a
46	chr8:58172643-58172693	AoSMC	blood vessel:	n/a
47	chr8:58172571-58172621	HCPEpiC	choroid plexus:	n/a
48	chr8:58173601-58173651	LNCaP	prostate:	n/a
49	chr8:58171766-58171816	GM19239	blood:	n/a
50	chr8:58172643-58172693	T-47D	breast:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM110B-7	chr8:58174093-58175676	ENSG00000253614
2	lnc-FAM110B-7	chr8:58173785-58173898	NR_038874
3	lnc-FAM110B-7	chr8:58174093-58175676	NR_038874
4	lnc-FAM110B-7	chr8:58173785-58173898	ENSG00000253614

No data

Variant related genes	Relation type
ENSG00000253614	TF binding region
ENSG00000253614	CpG island

Extended variants
information (count: 216 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148578472	chr8:58170209-58170210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs372136734	chr8:58170215-58170216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529514434	chr8:58170232-58170233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs549072604	chr8:58170300-58170301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs559200047	chr8:58170342-58170343	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs77120900	chr8:58170368-58170369	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs185926111	chr8:58170369-58170370	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs112272435	chr8:58170371-58170372	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs536988510	chr8:58170417-58170418	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs188733226	chr8:58170423-58170424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs181176707	chr8:58170452-58170453	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs567268684	chr8:58170454-58170455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs186424310	chr8:58170455-58170456	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs138882839	chr8:58170460-58170461	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112035915	chr8:58170466-58170467	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs535016506	chr8:58170489-58170490	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs557909303	chr8:58170516-58170517	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs374750038	chr8:58170552-58170553	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs578078827	chr8:58170567-58170568	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs116623297	chr8:58170568-58170569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs182842112	chr8:58170575-58170576	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs574252525	chr8:58170599-58170600	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs79561699	chr8:58170601-58170602	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs559377158	chr8:58170603-58170604	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs528220471	chr8:58170606-58170607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs551347893	chr8:58170607-58170608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs78953746	chr8:58170608-58170609	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113823909	chr8:58170635-58170636	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs386725802	chr8:58170640-58170641	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs114700910	chr8:58170642-58170643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs186271850	chr8:58170650-58170651	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs537066552	chr8:58170652-58170653	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs115548028	chr8:58170672-58170673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs11778817	chr8:58170673-58170674	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534771968	chr8:58170681-58170682	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201187972	chr8:58170717-58170718	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs558235351	chr8:58170728-58170729	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs536737398	chr8:58170740-58170741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs571641334	chr8:58170741-58170742	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs537459852	chr8:58170754-58170755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs147528249	chr8:58170760-58170761	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190740124	chr8:58170773-58170774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs553645809	chr8:58170808-58170809	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs28447218	chr8:58170813-58170814	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553330368	chr8:58170832-58170833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs527536272	chr8:58170840-58170841	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs17216711	chr8:58170856-58170857	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565590930	chr8:58170865-58170866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs544729347	chr8:58170906-58170907	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs575863634	chr8:58170908-58170909	Weak transcription ZNF genes & repeats	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
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58170200-58170400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:58170400-58171200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:58170400-58173000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:58171200-58171800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:58171200-58172400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:58171800-58172200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:58171800-58173000	ZNF genes & repeats	Spleen	Spleen
8	chr8:58172200-58173600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:58172400-58173800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:58173800-58174000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:58174000-58174200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:58174000-58174200	Enhancers	Spleen	Spleen

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