Variant report

Variant	nsv611903
Chromosome Location	chr8:112454301-112550599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:112458264..112460243-chr8:112464717..112466485,2	K562	blood:
2	chr8:112466504..112469313-chr8:112470334..112472257,2	MCF-7	breast:
3	chr8:112456153..112457084-chr8:112809101..112810085,7	MCF-7	breast:
4	chr8:112455862..112457106-chr8:112809020..112809893,6	MCF-7	breast:
5	chr8:112479743..112482044-chr8:112494341..112496246,2	K562	blood:
6	chr8:112471086..112471839-chr8:112809518..112810102,2	MCF-7	breast:
7	chr8:112479743..112482044-chr8:112494341..112496246,2	K562	blood:
8	chr8:112456214..112456969-chr8:112758072..112758694,3	MCF-7	breast:
9	chr8:112466504..112469313-chr8:112470334..112472257,2	MCF-7	breast:
10	chr8:112458264..112460243-chr8:112464717..112466485,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-422N16.3.1-4	chr8:112525276-112525364	ENSG00000253434.1
2	lnc-RP11-422N16.3.1-4	chr8:112478407-112478529	ENSG00000253434.1
3	lnc-RP11-422N16.3.1-4	chr8:112527241-112527565	ENSG00000253434.1
4	lnc-RP11-422N16.3.1-4	chr8:112482610-112482846	ENSG00000253434.1
5	lnc-RP11-422N16.3.1-4	chr8:112478407-112478529	ENSG00000253434.1
6	lnc-RP11-422N16.3.1-4	chr8:112525276-112525364	ENSG00000253434.1
7	lnc-RP11-422N16.3.1-4	chr8:112478407-112478529	ENSG00000253434.1

No data

Extended variants
information (count: 1320 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1320 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2606203	chr8:112454301-112454302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192446117	chr8:112454359-112454360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558448343	chr8:112454384-112454385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577761086	chr8:112454408-112454409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183783432	chr8:112454448-112454449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557130394	chr8:112454486-112454487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568972803	chr8:112454495-112454496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573758835	chr8:112454530-112454531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542329553	chr8:112454544-112454545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546071765	chr8:112454578-112454579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556495480	chr8:112454699-112454700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528226248	chr8:112454747-112454748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545332382	chr8:112454760-112454761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372577298	chr8:112454855-112454856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575494748	chr8:112454856-112454857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542599636	chr8:112454857-112454858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564827909	chr8:112454866-112454867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs36066513	chr8:112454877-112454878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560248332	chr8:112454878-112454879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201704227	chr8:112454879-112454880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549740719	chr8:112454885-112454886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188937756	chr8:112454887-112454888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529402935	chr8:112454910-112454911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191337173	chr8:112454930-112454931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147460303	chr8:112454974-112454975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531436399	chr8:112454982-112454983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182064692	chr8:112454993-112454994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138251493	chr8:112455001-112455002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571957150	chr8:112455005-112455006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537071903	chr8:112455016-112455017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187017972	chr8:112455042-112455043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141387840	chr8:112455111-112455112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368877133	chr8:112455154-112455155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548946666	chr8:112455221-112455222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552788618	chr8:112455250-112455251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7005311	chr8:112455258-112455259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544861145	chr8:112455265-112455266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564863910	chr8:112455283-112455284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575185783	chr8:112455292-112455293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544063847	chr8:112455364-112455365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376383583	chr8:112455365-112455366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs16882015	chr8:112455388-112455389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549505200	chr8:112455401-112455402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185442549	chr8:112455428-112455429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189911005	chr8:112455435-112455436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551984824	chr8:112455453-112455454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571842948	chr8:112455561-112455562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537756600	chr8:112455570-112455571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7005813	chr8:112455593-112455594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73704495	chr8:112455594-112455595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Glioblastoma multiforme	21080181	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112448600-112465600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:112455800-112456200	Enhancers	Fetal Brain Female	brain
3	chr8:112462600-112464200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:112463400-112464200	Enhancers	Brain Germinal Matrix	brain
5	chr8:112474600-112478600	Enhancers	HSMM	muscle
6	chr8:112475400-112475600	Enhancers	HSMMtube	muscle
7	chr8:112475400-112476400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:112475600-112481000	Weak transcription	HSMMtube	muscle
9	chr8:112476400-112476800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:112476800-112478800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:112478800-112480600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:112480600-112481600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:112480600-112481800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:112480800-112482000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:112481000-112481200	Enhancers	HSMMtube	muscle
16	chr8:112481400-112481800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:112482200-112482600	Weak transcription	Adipose Nuclei	Adipose
18	chr8:112482600-112484400	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr8:112482800-112483200	ZNF genes & repeats	Pancreas	Pancrea
20	chr8:112482800-112483600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:112482800-112483600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:112482800-112483600	Active TSS	Spleen	Spleen
23	chr8:112483800-112486000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:112484400-112489000	Weak transcription	Adipose Nuclei	Adipose
25	chr8:112485600-112486200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:112485600-112487800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:112485800-112487000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:112486000-112486400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:112486000-112486600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:112486000-112486800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:112486000-112487400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr8:112486200-112486800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:112486200-112486800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr8:112486800-112487800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:112487800-112488000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr8:112489000-112489400	Enhancers	Adipose Nuclei	Adipose
37	chr8:112498200-112498600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr8:112498200-112499400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:112538600-112539000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:112539000-112544000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:112539200-112540000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:112544000-112544600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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