Variant report

Variant	nsv881725
Chromosome Location	chr5:61265820-61376320
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:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:61264767..61267737-chr5:61276519..61278467,2	MCF-7	breast:
2	chr5:61288113..61290952-chr5:61291364..61292947,2	K562	blood:
3	chr5:61334280..61336026-chr5:61338071..61340993,2	MCF-7	breast:
4	chr5:61366065..61368035-chr5:61368040..61370720,2	K562	blood:
5	chr5:61288113..61290952-chr5:61291364..61292947,2	K562	blood:
6	chr5:61296910..61298928-chr5:61315407..61317934,2	MCF-7	breast:
7	chr5:61296910..61298928-chr5:61315407..61317934,2	MCF-7	breast:
8	chr5:61290242..61292667-chr5:61292946..61295835,2	MCF-7	breast:
9	chr5:61366065..61368035-chr5:61368040..61370720,2	K562	blood:
10	chr5:61290242..61292667-chr5:61292946..61295835,2	MCF-7	breast:
11	chr5:61354756..61356477-chr5:61362437..61365300,2	MCF-7	breast:
12	chr5:61354756..61356477-chr5:61362437..61365300,2	MCF-7	breast:
13	chr5:61264767..61267737-chr5:61276519..61278467,2	MCF-7	breast:
14	chr5:61334280..61336026-chr5:61338071..61340993,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 3345 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:3345 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12654555	chr5:61265820-61265821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79462430	chr5:61265835-61265836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537895830	chr5:61265848-61265849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1374005	chr5:61265883-61265884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574104073	chr5:61265923-61265924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539693313	chr5:61266020-61266021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34600071	chr5:61266040-61266041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139980244	chr5:61266069-61266070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143809556	chr5:61266072-61266073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552761144	chr5:61266122-61266123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570065035	chr5:61266169-61266170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146833689	chr5:61266181-61266182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140622029	chr5:61266198-61266199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561678278	chr5:61266250-61266251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145672040	chr5:61266295-61266296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184293801	chr5:61266385-61266386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75111585	chr5:61266408-61266409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs906691	chr5:61266422-61266423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs533683380	chr5:61266435-61266436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547351979	chr5:61266588-61266589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556492654	chr5:61266618-61266619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529512312	chr5:61266622-61266623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549450013	chr5:61266628-61266629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146572094	chr5:61266632-61266633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558932017	chr5:61266638-61266639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115245062	chr5:61266694-61266695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16897459	chr5:61266723-61266724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs149145082	chr5:61266767-61266768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74479827	chr5:61266781-61266782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187082322	chr5:61266782-61266783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539329900	chr5:61266831-61266832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552877691	chr5:61266833-61266834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73760527	chr5:61266881-61266882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370094373	chr5:61267002-61267003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535381209	chr5:61267010-61267011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541697338	chr5:61267013-61267014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536130606	chr5:61267040-61267041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192854908	chr5:61267090-61267091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77751141	chr5:61267158-61267159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114348538	chr5:61267228-61267229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143236308	chr5:61267311-61267312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540926858	chr5:61267358-61267359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201507507	chr5:61267373-61267374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148070855	chr5:61267375-61267376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184402417	chr5:61267398-61267399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554195872	chr5:61267406-61267407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140860856	chr5:61267434-61267435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541465190	chr5:61267465-61267466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1862587	chr5:61267466-61267467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189300181	chr5:61267478-61267479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61264400-61266200	Enhancers	HMEC	breast
2	chr5:61264400-61266400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:61264600-61266200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:61264800-61266000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:61264800-61266000	Enhancers	NHEK	skin
6	chr5:61264800-61266200	Enhancers	HSMM	muscle
7	chr5:61265000-61266200	Enhancers	HSMMtube	muscle
8	chr5:61265200-61266200	Enhancers	NHDF-Ad	bronchial
9	chr5:61265400-61266200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:61265800-61266200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:61266400-61270400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:61270400-61270600	Enhancers	HSMMtube	muscle
13	chr5:61270400-61271000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:61276400-61276800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr5:61276400-61277200	Enhancers	Fetal Intestine Small	intestine
16	chr5:61276600-61277200	Enhancers	Fetal Intestine Large	intestine
17	chr5:61276600-61277200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr5:61276600-61277400	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr5:61280800-61282800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:61282800-61284000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:61284000-61286000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:61284800-61285000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr5:61285000-61286600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:61286000-61286400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr5:61286000-61286400	Enhancers	HMEC	breast
26	chr5:61286000-61287200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:61286000-61288200	Enhancers	Fetal Intestine Large	intestine
28	chr5:61286000-61288800	Enhancers	Fetal Intestine Small	intestine
29	chr5:61286200-61287800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:61286400-61287400	Weak transcription	HMEC	breast
31	chr5:61286600-61287800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr5:61286600-61293400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:61287200-61287600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:61287200-61287600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:61287200-61287800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:61287200-61288800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:61287400-61287600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:61287400-61288200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:61287400-61288200	Enhancers	HMEC	breast
40	chr5:61287400-61290200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:61287600-61288200	Enhancers	HSMMtube	muscle
42	chr5:61287600-61289200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:61287600-61291200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:61287800-61288000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:61287800-61288200	Bivalent Enhancer	HSMM	muscle
46	chr5:61287800-61289000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:61288000-61289800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:61288000-61294800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:61288200-61289200	Weak transcription	HSMMtube	muscle
50	chr5:61288200-61291200	Weak transcription	Fetal Intestine Large	intestine

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