Variant report

Variant	nsv969205
Chromosome Location	chr5:112860167-112867961
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:0)
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	chr5:112867415..112871234-chr5:112874702..112879170,5	K562	blood:
2	chr5:112857449..112860235-chr5:112863616..112865733,2	K562	blood:
3	chr5:112858735..112860300-chr5:112863925..112865733,2	K562	blood:
4	chr5:112851058..112853151-chr5:112859618..112861901,3	MCF-7	breast:
5	chr5:112857449..112860235-chr5:112863616..112865733,2	K562	blood:
6	chr5:112317791..112320092-chr5:112860829..112862554,2	K562	blood:
7	chr5:112858735..112860300-chr5:112863925..112865733,2	K562	blood:
8	chr5:112855510..112858323-chr5:112860462..112863190,3	K562	blood:
9	chr5:112849528..112851672-chr5:112861510..112863268,2	K562	blood:
10	chr5:112850936..112852502-chr5:112866193..112868718,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000047188	chromatin interactions

Extended variants
information (count: 288 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553447266	chr5:112860194-112860195	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542974631	chr5:112860246-112860247	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572328570	chr5:112860283-112860284	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7732310	chr5:112860285-112860286	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs554839493	chr5:112860293-112860294	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79374893	chr5:112860318-112860319	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576284541	chr5:112860340-112860341	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544766309	chr5:112860376-112860377	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562992963	chr5:112860397-112860398	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578005326	chr5:112860616-112860617	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545387207	chr5:112860645-112860646	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548238334	chr5:112860660-112860661	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141934210	chr5:112860712-112860713	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146346648	chr5:112860821-112860822	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374939049	chr5:112860893-112860894	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112231922	chr5:112860910-112860911	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528002221	chr5:112860944-112860945	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549246908	chr5:112860983-112860984	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561174037	chr5:112861000-112861001	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs200006011	chr5:112861028-112861029	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547746769	chr5:112861051-112861052	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180750580	chr5:112861062-112861063	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566077626	chr5:112861067-112861068	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77971860	chr5:112861110-112861111	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571326778	chr5:112861118-112861119	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538329060	chr5:112861128-112861129	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200230171	chr5:112861253-112861254	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs11957044	chr5:112861267-112861268	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185154201	chr5:112861304-112861305	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs189969160	chr5:112861328-112861329	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs182558623	chr5:112861356-112861357	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs10037429	chr5:112861415-112861416	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537254700	chr5:112861420-112861421	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558422348	chr5:112861423-112861424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578063025	chr5:112861452-112861453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545135364	chr5:112861459-112861460	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533958424	chr5:112861490-112861491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75629172	chr5:112861539-112861540	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572083797	chr5:112861540-112861541	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562960137	chr5:112861637-112861638	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542960558	chr5:112861658-112861659	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561236045	chr5:112861670-112861671	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188181700	chr5:112861718-112861719	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs554110990	chr5:112861725-112861726	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115093234	chr5:112861747-112861748	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573930364	chr5:112861826-112861827	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143536671	chr5:112861842-112861843	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577118386	chr5:112861844-112861845	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532268527	chr5:112861945-112861946	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76422592	chr5:112861979-112861980	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112850400-112863600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:112850400-112866600	Weak transcription	Esophagus	oesophagus
3	chr5:112850400-112866600	Weak transcription	Placenta	Placenta
4	chr5:112850400-112866800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:112850400-112866800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:112850400-112866800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:112850400-112866800	Weak transcription	Aorta	Aorta
8	chr5:112850400-112866800	Weak transcription	Lung	lung
9	chr5:112850400-112867000	Weak transcription	Pancreas	Pancrea
10	chr5:112850400-112879000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:112850400-112879200	Weak transcription	Gastric	stomach
12	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
13	chr5:112850600-112860600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:112850600-112862000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:112850600-112865400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:112850600-112865600	Weak transcription	Fetal Kidney	kidney
17	chr5:112850600-112866600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:112850600-112866600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:112850600-112867600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:112850600-112868600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:112850600-112874800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:112850600-112879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
24	chr5:112851400-112864400	Weak transcription	Hela-S3	cervix
25	chr5:112851400-112866800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:112851400-112879000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:112851600-112866600	Weak transcription	Small Intestine	intestine
28	chr5:112851600-112866800	Weak transcription	NHLF	lung
29	chr5:112851600-112893200	Weak transcription	Fetal Brain Male	brain
30	chr5:112851600-112902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:112851800-112866800	Weak transcription	NH-A	brain
32	chr5:112852200-112866600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:112852400-112860800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:112852400-112866000	Weak transcription	Adipose Nuclei	Adipose
35	chr5:112852400-112866600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:112852400-112878800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:112852400-112882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:112852400-112882200	Weak transcription	Fetal Heart	heart
39	chr5:112853200-112882400	Weak transcription	Brain Angular Gyrus	brain
40	chr5:112853400-112860600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:112853400-112862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:112853400-112865600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:112853600-112866600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:112854200-112866800	Weak transcription	Fetal Stomach	stomach
45	chr5:112854800-112866200	Weak transcription	Fetal Lung	lung
46	chr5:112855000-112863400	Weak transcription	Fetal Intestine Small	intestine
47	chr5:112855600-112866600	Weak transcription	HSMMtube	muscle
48	chr5:112855800-112863400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:112856600-112860600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr5:112856600-112861200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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