Variant report

Variant	nsv980960
Chromosome Location	chr5:114640484-114645980
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:114645171..114646099-chr5:114908180..114909218,4	K562	blood:
2	chr5:114640336..114642375-chr5:114647745..114650691,2	K562	blood:
3	chr5:114645305..114646120-chr5:115403049..115404011,2	K562	blood:
4	chr5:114644466..114646908-chr5:114878278..114881087,2	MCF-7	breast:
5	chr5:114640840..114642541-chr5:114647745..114650206,3	K562	blood:
6	chr5:114645535..114646139-chr5:114921972..114922517,2	MCF-7	breast:
7	chr5:114629727..114632904-chr5:114639904..114644265,4	MCF-7	breast:
8	chr5:114645258..114646128-chr5:114921954..114922997,3	K562	blood:
9	chr5:114630713..114633378-chr5:114639013..114640767,2	MCF-7	breast:
10	chr5:114645138..114646056-chr5:114908059..114908645,2	MCF-7	breast:
11	chr5:114645624..114646196-chr5:114709538..114710375,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145780	chromatin interactions
ENSG00000164221	chromatin interactions

Extended variants
information (count: 197 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562490044	chr5:114640501-114640502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs13175151	chr5:114640536-114640537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551402069	chr5:114640563-114640564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180843748	chr5:114640626-114640627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs981825	chr5:114640636-114640637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185895612	chr5:114640650-114640651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567378399	chr5:114640675-114640676	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2112362	chr5:114640689-114640690	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556227334	chr5:114640690-114640691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs202206432	chr5:114640728-114640729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188317035	chr5:114640842-114640843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540081871	chr5:114640885-114640886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs75097662	chr5:114640886-114640887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558536344	chr5:114640887-114640888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558370323	chr5:114640896-114640897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572173239	chr5:114640936-114640937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs139702019	chr5:114640957-114640958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11948462	chr5:114640979-114640980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs76036513	chr5:114640998-114640999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530262662	chr5:114641108-114641109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142336755	chr5:114641114-114641115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563871201	chr5:114641159-114641160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555082257	chr5:114641262-114641263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs181167639	chr5:114641271-114641272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538930933	chr5:114641308-114641309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559223830	chr5:114641309-114641310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370258325	chr5:114641350-114641351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571286963	chr5:114641456-114641457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527362975	chr5:114641550-114641551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547209662	chr5:114641635-114641636	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567446567	chr5:114641642-114641643	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs151274643	chr5:114641694-114641695	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556325246	chr5:114641753-114641754	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs140423201	chr5:114641755-114641756	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538561713	chr5:114641824-114641825	Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185814188	chr5:114641828-114641829	Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373570148	chr5:114641878-114641879	Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150406190	chr5:114641879-114641880	Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541496988	chr5:114641907-114641908	Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572431588	chr5:114641934-114641935	Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190575718	chr5:114641950-114641951	Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183178176	chr5:114641962-114641963	Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs17137619	chr5:114641964-114641965	Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376982669	chr5:114641992-114641993	Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7734924	chr5:114642041-114642042	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187181755	chr5:114642050-114642051	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146627738	chr5:114642060-114642061	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543117584	chr5:114642072-114642073	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192108910	chr5:114642083-114642084	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141404419	chr5:114642087-114642088	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	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
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114632200-114641800	Weak transcription	Stomach Mucosa	stomach
2	chr5:114641600-114642000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:114641600-114642200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:114641600-114642200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:114641600-114642200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:114641600-114642400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr5:114641800-114642000	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
8	chr5:114641800-114642200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:114641800-114642200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:114641800-114642200	Enhancers	Fetal Intestine Small	intestine
11	chr5:114641800-114642200	Enhancers	Stomach Mucosa	stomach
12	chr5:114641800-114642400	Enhancers	Brain Germinal Matrix	brain
13	chr5:114641800-114642600	Enhancers	Duodenum Mucosa	Duodenum
14	chr5:114642000-114642400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr5:114642200-114651200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:114642200-114651400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:114642400-114647400	Weak transcription	Brain Germinal Matrix	brain
18	chr5:114645200-114645600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:114645400-114645600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:114645400-114645600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:114645600-114646200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:114645600-114648000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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