Variant report

Variant	nsv881724
Chromosome Location	chr5:61257159-61318424
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:61296910..61298928-chr5:61315407..61317934,2	MCF-7	breast:
2	chr5:61264767..61267737-chr5:61276519..61278467,2	MCF-7	breast:
3	chr5:61288113..61290952-chr5:61291364..61292947,2	K562	blood:
4	chr5:61264767..61267737-chr5:61276519..61278467,2	MCF-7	breast:
5	chr5:61290242..61292667-chr5:61292946..61295835,2	MCF-7	breast:
6	chr5:61296910..61298928-chr5:61315407..61317934,2	MCF-7	breast:
7	chr5:61290242..61292667-chr5:61292946..61295835,2	MCF-7	breast:
8	chr5:61288113..61290952-chr5:61291364..61292947,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf64-4	chr5:61264929-61264945	NONHSAT101698
2	lnc-C5orf64-4	chr5:61270044-61271125	NONHSAT101698

No data

Extended variants
information (count: 1759 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1759 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs263665	chr5:61257159-61257160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565285506	chr5:61257201-61257202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567860213	chr5:61257213-61257214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530412844	chr5:61257276-61257277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192546581	chr5:61257303-61257304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185390197	chr5:61257332-61257333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190423134	chr5:61257364-61257365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562320710	chr5:61257422-61257423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540144635	chr5:61257434-61257435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368744548	chr5:61257443-61257444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547353925	chr5:61257449-61257450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192885859	chr5:61257490-61257491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536102973	chr5:61257532-61257533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117128213	chr5:61257572-61257573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575703370	chr5:61257618-61257619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537805825	chr5:61257625-61257626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71631917	chr5:61257653-61257654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75612516	chr5:61257717-61257718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577027825	chr5:61257745-61257746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112633142	chr5:61257763-61257764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559249297	chr5:61257769-61257770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112599209	chr5:61257859-61257860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141940113	chr5:61257945-61257946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375357011	chr5:61257958-61257959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530630657	chr5:61257983-61257984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573908218	chr5:61257988-61257989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146039049	chr5:61258034-61258035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550275696	chr5:61258046-61258047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530347378	chr5:61258079-61258080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75213166	chr5:61258132-61258133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372818437	chr5:61258140-61258141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532988702	chr5:61258184-61258185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566602779	chr5:61258187-61258188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117571026	chr5:61258249-61258250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567212562	chr5:61258277-61258278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142188855	chr5:61258297-61258298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549603018	chr5:61258306-61258307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150760593	chr5:61258309-61258310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538352060	chr5:61258337-61258338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558002980	chr5:61258400-61258401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577948438	chr5:61258423-61258424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373651017	chr5:61258451-61258452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533977255	chr5:61258509-61258510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374932972	chr5:61258589-61258590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188596849	chr5:61258640-61258641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572807956	chr5:61258653-61258654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367934674	chr5:61258687-61258688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139093517	chr5:61258691-61258692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575384919	chr5:61258694-61258695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73760525	chr5:61258789-61258790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
Intellectual disability	22102821	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
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	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
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	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61250400-61259600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:61250800-61259200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:61258800-61259000	Enhancers	HSMMtube	muscle
4	chr5:61259000-61260400	Weak transcription	HSMMtube	muscle
5	chr5:61259200-61260600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:61259400-61260000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:61259400-61260200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:61259400-61261200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:61259400-61261200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:61259600-61260600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:61259600-61260600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:61259600-61261000	Enhancers	NH-A	brain
13	chr5:61259600-61261000	Enhancers	NHEK	skin
14	chr5:61259600-61261200	Enhancers	HMEC	breast
15	chr5:61259800-61260400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:61259800-61260400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:61259800-61260600	Enhancers	NHLF	lung
18	chr5:61259800-61260800	Enhancers	NHDF-Ad	bronchial
19	chr5:61259800-61261200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:61259800-61261600	Enhancers	HSMM	muscle
21	chr5:61260000-61260200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:61260000-61260600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:61260000-61260600	Enhancers	HUVEC	blood vessel
24	chr5:61260000-61262400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:61260000-61264000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:61260200-61263600	Enhancers	Fetal Intestine Large	intestine
27	chr5:61260200-61263600	Enhancers	Fetal Intestine Small	intestine
28	chr5:61260400-61261200	Enhancers	HSMMtube	muscle
29	chr5:61260400-61262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:61260600-61260800	Enhancers	Gastric	stomach
31	chr5:61260600-61262600	Weak transcription	NHLF	lung
32	chr5:61260600-61264800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:61260600-61265400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:61260600-61265400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:61260800-61262800	Weak transcription	Gastric	stomach
36	chr5:61260800-61265200	Weak transcription	NHDF-Ad	bronchial
37	chr5:61261000-61261400	Weak transcription	NHEK	skin
38	chr5:61261000-61262200	Weak transcription	NH-A	brain
39	chr5:61261200-61262200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:61261200-61262600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:61261200-61264400	Weak transcription	HMEC	breast
42	chr5:61261200-61264600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:61261200-61265000	Weak transcription	HSMMtube	muscle
44	chr5:61261400-61261600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:61261400-61261600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr5:61261400-61261600	Enhancers	NHEK	skin
47	chr5:61261400-61262000	Enhancers	Stomach Mucosa	stomach
48	chr5:61261600-61262600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:61261600-61264800	Weak transcription	HSMM	muscle
50	chr5:61261600-61264800	Weak transcription	NHEK	skin

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