Variant report

Variant	nsv980791
Chromosome Location	chr5:49968246-49975820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:49973996..49976524-chr5:49985360..49987243,2	MCF-7	breast:
2	chr5:49970649..49973265-chr5:49975299..49977722,2	MCF-7	breast:
3	chr5:49966970..49969642-chr5:50045524..50047649,2	MCF-7	breast:
4	chr5:49970649..49973265-chr5:49975299..49977722,2	MCF-7	breast:
5	chr5:49962787..49964612-chr5:49967934..49969609,2	MCF-7	breast:
6	chr20:9344139..9345018-chr5:49970141..49970936,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151883	chromatin interactions

Extended variants
information (count: 286 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:286 , 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	rs532444030	chr5:49968278-49968279	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566815418	chr5:49968284-49968285	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189020602	chr5:49968309-49968310	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181887120	chr5:49968383-49968384	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184879908	chr5:49968389-49968390	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550692655	chr5:49968391-49968392	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138285277	chr5:49968405-49968406	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536315820	chr5:49968440-49968441	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549077716	chr5:49968446-49968447	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189401820	chr5:49968449-49968450	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181426380	chr5:49968450-49968451	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539365692	chr5:49968453-49968454	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558979541	chr5:49968479-49968480	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112881192	chr5:49968483-49968484	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554864320	chr5:49968530-49968531	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184958599	chr5:49968562-49968563	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538032304	chr5:49968578-49968579	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573120312	chr5:49968602-49968603	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555173256	chr5:49968615-49968616	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574600182	chr5:49968629-49968630	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs540287142	chr5:49968655-49968656	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560190768	chr5:49968666-49968667	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576758843	chr5:49968669-49968670	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546116626	chr5:49968677-49968678	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189812914	chr5:49968713-49968714	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs531607164	chr5:49968768-49968769	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548001216	chr5:49968770-49968771	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs202185498	chr5:49968789-49968790	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181829580	chr5:49968793-49968794	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540418591	chr5:49968883-49968884	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530137502	chr5:49968899-49968900	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546686584	chr5:49968914-49968915	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186423700	chr5:49968966-49968967	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs35000068	chr5:49969014-49969015	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566900602	chr5:49969065-49969066	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191822073	chr5:49969140-49969141	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552861584	chr5:49969149-49969150	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34507314	chr5:49969162-49969163	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372455068	chr5:49969186-49969187	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569470703	chr5:49969189-49969190	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559128390	chr5:49969206-49969207	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs74526917	chr5:49969246-49969247	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573615102	chr5:49969248-49969249	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs6859621	chr5:49969265-49969266	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs575036630	chr5:49969275-49969276	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183235405	chr5:49969302-49969303	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143504574	chr5:49969303-49969304	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115048068	chr5:49969308-49969309	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188703063	chr5:49969325-49969326	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545506052	chr5:49969333-49969334	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49964400-49970000	Weak transcription	Aorta	Aorta
2	chr5:49964400-49975400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:49964400-49977400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:49964400-49982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:49964400-49983400	Weak transcription	Esophagus	oesophagus
6	chr5:49964600-49969000	Weak transcription	Osteobl	bone
7	chr5:49964800-49968800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:49964800-49969200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:49964800-49969200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:49964800-49970800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:49964800-49976200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:49964800-49976600	Weak transcription	NHDF-Ad	bronchial
13	chr5:49964800-49977600	Weak transcription	Brain Anterior Caudate	brain
14	chr5:49964800-49977800	Weak transcription	Fetal Brain Male	brain
15	chr5:49965000-49970200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:49965400-49968400	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:49965400-49968400	Weak transcription	Small Intestine	intestine
18	chr5:49965400-49969400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:49965600-49968600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr5:49965600-49976400	Weak transcription	HMEC	breast
21	chr5:49965800-49968400	Weak transcription	Fetal Thymus	thymus
22	chr5:49965800-49969800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:49965800-49973400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr5:49965800-49973800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr5:49965800-49976000	Weak transcription	Fetal Lung	lung
26	chr5:49965800-49976000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:49965800-49982000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:49965800-49983600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:49966000-49969800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr5:49966000-49970400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:49966000-49975400	Weak transcription	NHEK	skin
32	chr5:49966800-49968400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:49967000-49969000	Genic enhancers	Primary T cells from cord blood	blood
34	chr5:49967400-49968600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr5:49967600-49969000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:49967600-49969400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:49967600-49970200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:49967800-49968400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:49967800-49968400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:49967800-49968400	Enhancers	Stomach Smooth Muscle	stomach
41	chr5:49967800-49968400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
42	chr5:49967800-49968600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:49967800-49968600	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr5:49967800-49968600	Enhancers	Primary hematopoietic stem cells	blood
45	chr5:49967800-49968600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr5:49967800-49968600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:49967800-49968600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr5:49967800-49968600	Enhancers	Brain Hippocampus Middle	brain
49	chr5:49967800-49968600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr5:49967800-49968800	Genic enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links