Variant report

Variant	nsv1032252
Chromosome Location	chr5:101481484-101522225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:101277790..101278635-chr5:101488732..101489585,4	MCF-7	breast:
2	chr5:101277636..101278379-chr5:101489093..101489664,2	MCF-7	breast:
3	chr5:101476598..101478204-chr5:101481147..101483100,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAM-5	chr5:101482019-101482276	XLOC_004491
2	lnc-PAM-5	chr5:101482018-101482276	NONHSAT103022

Extended variants
information (count: 581 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575505166	chr5:101481488-101481489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57988940	chr5:101481493-101481494	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533261195	chr5:101481497-101481498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551315854	chr5:101481507-101481508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371356339	chr5:101481523-101481524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563366666	chr5:101481540-101481541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552008514	chr5:101481549-101481550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143098356	chr5:101481576-101481577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13436505	chr5:101481597-101481598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552775898	chr5:101481601-101481602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114780196	chr5:101481611-101481612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61442479	chr5:101481617-101481618	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534812009	chr5:101481619-101481620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74607953	chr5:101481622-101481623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571319944	chr5:101481627-101481628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1423664	chr5:101481665-101481666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190833252	chr5:101481679-101481680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183454670	chr5:101481717-101481718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143377013	chr5:101481725-101481726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546803953	chr5:101481771-101481772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1833911	chr5:101481777-101481778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188109086	chr5:101481834-101481835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4703208	chr5:101481839-101481840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559696293	chr5:101481844-101481845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577690084	chr5:101481848-101481849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191254166	chr5:101481871-101481872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563479009	chr5:101481891-101481892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141392797	chr5:101481902-101481903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549153299	chr5:101481905-101481906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561223294	chr5:101481928-101481929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528383231	chr5:101481934-101481935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546725136	chr5:101481949-101481950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571487639	chr5:101481954-101481955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569425288	chr5:101481963-101481964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7725786	chr5:101482000-101482001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538701873	chr5:101482002-101482003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535849238	chr5:101482051-101482052	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs150822075	chr5:101482086-101482087	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs140028908	chr5:101482108-101482109	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs536236492	chr5:101482132-101482133	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs554277642	chr5:101482141-101482142	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs66485973	chr5:101482142-101482143	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535029942	chr5:101482188-101482189	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs558454342	chr5:101482195-101482196	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs78718467	chr5:101482215-101482216	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs115741428	chr5:101482254-101482255	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs544171744	chr5:101482347-101482348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545228166	chr5:101482365-101482366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182694435	chr5:101482386-101482387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79518516	chr5:101482398-101482399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101480800-101481800	Enhancers	HepG2	liver
2	chr5:101481200-101488800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:101481800-101487600	Weak transcription	HepG2	liver
4	chr5:101487600-101489600	Enhancers	HepG2	liver
5	chr5:101488400-101488800	Enhancers	Fetal Intestine Large	intestine
6	chr5:101488800-101489000	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr5:101488800-101489000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr5:101488800-101489200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:101488800-101489200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:101488800-101489200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:101488800-101489200	Flanking Active TSS	Fetal Intestine Large	intestine
12	chr5:101488800-101489200	Enhancers	Fetal Kidney	kidney
13	chr5:101488800-101489400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:101488800-101489800	Enhancers	Fetal Intestine Small	intestine
15	chr5:101488800-101491200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr5:101489000-101490400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:101489200-101489600	Enhancers	Fetal Intestine Large	intestine
18	chr5:101489200-101490400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:101489200-101490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:101489400-101490400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:101489600-101490000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:101489600-101490200	Weak transcription	Fetal Intestine Large	intestine
23	chr5:101489800-101490200	Weak transcription	Fetal Intestine Small	intestine
24	chr5:101490000-101490400	Active TSS	Primary T cells from cord blood	blood
25	chr5:101490000-101491200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:101490200-101491200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:101490200-101491200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:101490200-101491200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:101490200-101491200	Active TSS	Fetal Intestine Large	intestine
30	chr5:101490200-101491200	Active TSS	Fetal Intestine Small	intestine
31	chr5:101490200-101491200	Active TSS	Stomach Smooth Muscle	stomach
32	chr5:101490400-101491000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:101490400-101491000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:101490400-101491000	Active TSS	Esophagus	oesophagus
35	chr5:101490400-101491000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr5:101490400-101491200	Active TSS	H1 Cell Line	embryonic stem cell
37	chr5:101490400-101491200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr5:101490400-101491200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr5:101490400-101491200	Active TSS	Pancreas	Pancrea
40	chr5:101490400-101491200	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr5:101490400-101491200	Active TSS	Osteobl	bone
42	chr5:101490600-101491000	Active TSS	Right Ventricle	heart
43	chr5:101491000-101493600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:101493400-101493800	Enhancers	Aorta	Aorta
45	chr5:101517600-101517800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:101518200-101519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:101519800-101520400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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