Variant report

Variant	nsv881723
Chromosome Location	chr5:61183375-61311715
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:25)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60954225..60954982-chr5:61229491..61230129,2	K562	blood:
2	chr5:59109528..59110417-chr5:61229758..61230420,2	K562	blood:
3	chr5:61288113..61290952-chr5:61291364..61292947,2	K562	blood:
4	chr5:61296910..61298928-chr5:61315407..61317934,2	MCF-7	breast:
5	chr5:61216332..61218057-chr5:61222932..61225372,2	K562	blood:
6	chr5:61211222..61213551-chr5:61232235..61234411,2	K562	blood:
7	chr5:60350790..60351716-chr5:61229541..61230428,4	MCF-7	breast:
8	chr5:61228666..61231656-chr5:61245211..61247829,2	K562	blood:
9	chr5:61211222..61213551-chr5:61232235..61234411,2	K562	blood:
10	chr5:61228666..61231656-chr5:61245211..61247829,2	K562	blood:
11	chr5:61290242..61292667-chr5:61292946..61295835,2	MCF-7	breast:
12	chr5:61216332..61218890-chr5:61222932..61225117,2	K562	blood:
13	chr5:61229619..61230608-chr5:61439489..61440182,2	MCF-7	breast:
14	chr5:61264767..61267737-chr5:61276519..61278467,2	MCF-7	breast:
15	chr5:61288113..61290952-chr5:61291364..61292947,2	K562	blood:
16	chr5:61040642..61041825-chr5:61229396..61230416,5	MCF-7	breast:
17	chr5:61216332..61218890-chr5:61222932..61225117,2	K562	blood:
18	chr5:61216332..61218057-chr5:61222932..61225372,2	K562	blood:
19	chr5:61290242..61292667-chr5:61292946..61295835,2	MCF-7	breast:
20	chr5:60627854..60629759-chr5:61229105..61230732,2	MCF-7	breast:
21	chr5:61064649..61065174-chr5:61229763..61230413,2	K562	blood:
22	chr5:61064645..61065436-chr5:61229546..61230228,3	MCF-7	breast:
23	chr5:60949291..60950240-chr5:61229825..61230570,2	MCF-7	breast:
24	chr5:61064242..61065161-chr5:61211758..61212552,2	MCF-7	breast:
25	chr5:61264767..61267737-chr5:61276519..61278467,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000130449	chromatin interactions

Extended variants
information (count: 4244 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:4244 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1549626	chr5:61183375-61183376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184551265	chr5:61183388-61183389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560538778	chr5:61183449-61183450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557155733	chr5:61183492-61183493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs263661	chr5:61183533-61183534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189999359	chr5:61183555-61183556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552959690	chr5:61183567-61183568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571963856	chr5:61183568-61183569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148850371	chr5:61183577-61183578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75995048	chr5:61183589-61183590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574524791	chr5:61183600-61183601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181805378	chr5:61183613-61183614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563198771	chr5:61183615-61183616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532241543	chr5:61183648-61183649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17343961	chr5:61183670-61183671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555999046	chr5:61183689-61183690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559386819	chr5:61183691-61183692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530424500	chr5:61183726-61183727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548993732	chr5:61183740-61183741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548886891	chr5:61183789-61183790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146942165	chr5:61183825-61183826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186498611	chr5:61183845-61183846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368249209	chr5:61183853-61183854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372412876	chr5:61183873-61183874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551171502	chr5:61183876-61183877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570817155	chr5:61183899-61183900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375619243	chr5:61183939-61183940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375266491	chr5:61183967-61183968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550255548	chr5:61183987-61183988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147552157	chr5:61184003-61184004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191340654	chr5:61184008-61184009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142642436	chr5:61184027-61184028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73109805	chr5:61184155-61184156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528362259	chr5:61184208-61184209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546917631	chr5:61184275-61184276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535482101	chr5:61184281-61184282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181167674	chr5:61184290-61184291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574692373	chr5:61184301-61184302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536804565	chr5:61184331-61184332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11738651	chr5:61184345-61184346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577009883	chr5:61184352-61184353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545907229	chr5:61184412-61184413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62365923	chr5:61184437-61184438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375288370	chr5:61184441-61184442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370093395	chr5:61184472-61184473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189696354	chr5:61184487-61184488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541868536	chr5:61184513-61184514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562337571	chr5:61184532-61184533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76545302	chr5:61184540-61184541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550850775	chr5:61184571-61184572	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
Acute myeloid leukemia	20729466	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
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
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61182800-61183400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:61183000-61183600	Enhancers	HMEC	breast
3	chr5:61183200-61183400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:61183400-61190600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:61190600-61190800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:61190800-61197200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:61196000-61206200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:61196600-61198600	Weak transcription	HMEC	breast
9	chr5:61196800-61198600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:61197200-61197600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:61197600-61198400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:61197800-61198000	Enhancers	Left Ventricle	heart
13	chr5:61198000-61198200	Enhancers	Stomach Smooth Muscle	stomach
14	chr5:61198200-61199400	Enhancers	NHEK	skin
15	chr5:61198200-61200600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:61198400-61199400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:61198600-61199200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:61198600-61199400	Enhancers	HMEC	breast
19	chr5:61198800-61203200	Enhancers	Colon Smooth Muscle	Colon
20	chr5:61199200-61206200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:61199400-61202600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:61199400-61206200	Weak transcription	HMEC	breast
23	chr5:61200600-61201600	Enhancers	Stomach Smooth Muscle	stomach
24	chr5:61200800-61201800	Enhancers	Fetal Brain Male	brain
25	chr5:61201000-61203000	Enhancers	Rectal Smooth Muscle	rectum
26	chr5:61201400-61201800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr5:61201600-61202800	Enhancers	Fetal Stomach	stomach
28	chr5:61201600-61202800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:61202400-61203200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:61202600-61203200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:61202600-61203200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:61203000-61203200	Enhancers	Stomach Smooth Muscle	stomach
33	chr5:61203200-61204600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:61204600-61205600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:61205600-61206400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:61206200-61206800	Enhancers	NHEK	skin
37	chr5:61206200-61207000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:61206200-61207400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:61206200-61207600	Enhancers	HMEC	breast
40	chr5:61206400-61206800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:61206800-61207400	Weak transcription	NHEK	skin
42	chr5:61206800-61207800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:61207000-61211600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:61207400-61207600	ZNF genes & repeats	NHEK	skin
45	chr5:61207400-61208200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:61207800-61209600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:61208000-61208400	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr5:61208200-61208400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:61208200-61209000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:61208400-61208600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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