Variant report

Variant	nsv830341
Chromosome Location	chr5:71057105-71221422
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:93)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:93 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:133038209..133039052-chr5:71146751..71147399,3	MCF-7	breast:
2	chr2:230044012..230045585-chr5:71145364..71146913,3	K562	blood:
3	chr5:71058298..71059848-chr5:71071197..71073822,2	MCF-7	breast:
4	chr5:71078579..71080397-chr5:71082395..71084458,2	K562	blood:
5	chr16:33963368..33965221-chr5:71145359..71146901,3	K562	blood:
6	chr2:230044989..230045604-chr5:71146241..71147256,8	MCF-7	breast:
7	chr5:71190468..71192624-chr5:71197087..71199847,2	K562	blood:
8	chr5:71137611..71140365-chr5:71159698..71162075,2	MCF-7	breast:
9	chr5:71200300..71201152-chr6:18609319..18610218,2	MCF-7	breast:
10	chr19:24184131..24186954-chr5:71145411..71148367,2	K562	blood:
11	chr5:71078896..71079422-chr5:71131603..71132367,2	K562	blood:
12	chr5:71059681..71061404-chr5:71064664..71066232,2	K562	blood:
13	chr5:71135023..71137498-chr5:71139578..71141172,2	K562	blood:
14	chr5:71078896..71079422-chr5:71131603..71132367,2	K562	blood:
15	chr5:71135023..71137498-chr5:71139578..71141172,2	K562	blood:
16	chr2:230045001..230045606-chr5:71146258..71147406,10	MCF-7	breast:
17	chr5:71101233..71103504-chr5:71105998..71108130,2	K562	blood:
18	chr5:71101233..71103504-chr5:71105998..71108130,2	K562	blood:
19	chr2:230045004..230045571-chr5:71146425..71146927,2	MCF-7	breast:
20	chr5:71179670..71181472-chr5:71182474..71184371,2	MCF-7	breast:
21	chr17:19355220..19356215-chr5:71146253..71146879,3	MCF-7	breast:
22	chr5:71078816..71079346-chr5:71603953..71604913,2	MCF-7	breast:
23	chr5:71077238..71079300-chr5:71228423..71230403,2	MCF-7	breast:
24	chr5:71202667..71205592-chr5:71207998..71210247,2	MCF-7	breast:
25	chr2:133038216..133038968-chr5:71146910..71147410,2	K562	blood:
26	chr5:71106550..71108166-chr5:71111761..71113690,2	MCF-7	breast:
27	chr16:47538727..47539710-chr5:71146281..71146891,2	HCT-116	colon:
28	chr5:71078800..71079374-chr5:71603956..71604467,2	K562	blood:
29	chr5:71078540..71079297-chr5:71565046..71565659,2	MCF-7	breast:
30	chr2:133038140..133038648-chr5:71146774..71147415,2	MCF-7	breast:
31	chr5:71165578..71168128-chr5:71169421..71171242,2	K562	blood:
32	chr2:230044039..230045579-chr5:71145407..71146911,2	MCF-7	breast:
33	chr5:71189279..71192218-chr5:71202193..71204017,2	MCF-7	breast:
34	chr1:108111602..108115023-chr5:71145365..71146925,4	K562	blood:
35	chr5:71114667..71117999-chr5:71119271..71121146,3	K562	blood:
36	chr5:71179102..71181399-chr5:71184827..71187631,2	MCF-7	breast:
37	chr5:71197687..71199862-chr5:71405811..71408387,2	K562	blood:
38	chr5:71074212..71075147-chr5:71564718..71565632,6	MCF-7	breast:
39	chr5:71173171..71176088-chr5:71177807..71179462,2	K562	blood:
40	chr5:71065599..71067707-chr5:71618259..71620738,2	MCF-7	breast:
41	chr5:71185338..71187545-chr5:71189220..71190761,2	K562	blood:
42	chr5:71202667..71205592-chr5:71207998..71210247,2	MCF-7	breast:
43	chr5:71137611..71140365-chr5:71159698..71162075,2	MCF-7	breast:
44	chr5:71106550..71108166-chr5:71111761..71113690,2	MCF-7	breast:
45	chr5:71101233..71104471-chr5:71105195..71109524,4	K562	blood:
46	chr5:71078341..71079354-chr5:71374875..71375764,6	MCF-7	breast:
47	chr5:71078548..71079433-chr5:71218336..71218998,2	MCF-7	breast:
48	chr5:71058298..71059848-chr5:71071197..71073822,2	MCF-7	breast:
49	chr2:230044998..230045608-chr5:71146243..71146926,2	HCT-116	colon:
50	chr1:108112615..108113379-chr5:71146385..71146910,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145734	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000131711	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000222268	chromatin interactions
ENSG00000235979	chromatin interactions

Extended variants
information (count: 5670 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:5670 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568458682	chr5:71060968-71060969	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535079804	chr5:71060969-71060970	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565214998	chr5:71061064-71061065	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553305259	chr5:71061078-71061079	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565347697	chr5:71061083-71061084	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539128773	chr5:71061086-71061087	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544566454	chr5:71061094-71061095	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576140634	chr5:71061097-71061098	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192373305	chr5:71061111-71061112	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144584110	chr5:71061119-71061120	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555695830	chr5:71061139-71061140	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs573932569	chr5:71061155-71061156	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541340497	chr5:71061195-71061196	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560481371	chr5:71061198-71061199	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527704722	chr5:71061281-71061282	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545961873	chr5:71061285-71061286	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs386688919	chr5:71061299-71061300	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs57843916	chr5:71061301-71061302	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12656111	chr5:71061313-71061314	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550010939	chr5:71061330-71061331	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568320169	chr5:71061345-71061346	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529505112	chr5:71061358-71061359	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs148482175	chr5:71061359-71061360	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs75495458	chr5:71061364-71061365	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547276090	chr5:71061368-71061369	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs142593724	chr5:71061381-71061382	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551178386	chr5:71061401-71061402	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569779520	chr5:71061447-71061448	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537146742	chr5:71061491-71061492	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555557224	chr5:71061606-71061607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573894723	chr5:71061671-71061672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534885655	chr5:71061672-71061673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79890097	chr5:71061693-71061694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs36053989	chr5:71061715-71061716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9293660	chr5:71061733-71061734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs16872110	chr5:71061735-71061736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564423019	chr5:71061748-71061749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576435987	chr5:71061749-71061750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543519571	chr5:71061750-71061751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs146865443	chr5:71061795-71061796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184760566	chr5:71061803-71061804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529467734	chr5:71061826-71061827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs547667415	chr5:71061842-71061843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560033676	chr5:71061844-71061845	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190178231	chr5:71061856-71061857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551309393	chr5:71061876-71061877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569556557	chr5:71061918-71061919	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs6895325	chr5:71062020-71062021	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs55819129	chr5:71062026-71062027	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150981116	chr5:71062027-71062028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	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
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
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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1297 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:71061000-71061600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr5:71061200-71061400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr5:71061200-71061600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:71061200-71061800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:71061600-71064000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:71061600-71065000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:71061800-71065000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:71062800-71063800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:71062800-71064000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:71063200-71063400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
11	chr5:71063200-71063400	Bivalent Enhancer	Osteobl	bone
12	chr5:71063200-71064000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:71063200-71064000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr5:71063200-71065000	Enhancers	HUVEC	blood vessel
15	chr5:71064000-71064200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:71064200-71065000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:71064400-71065600	Enhancers	Primary hematopoietic stem cells	blood
18	chr5:71064600-71065800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr5:71064800-71065400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr5:71064800-71065400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:71064800-71065600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:71065000-71065400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:71065000-71065400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:71065000-71065400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:71065000-71065400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:71065000-71065600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:71065000-71065600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:71065000-71065600	Flanking Active TSS	HUVEC	blood vessel
29	chr5:71065200-71065600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:71065200-71065600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:71065200-71065600	Bivalent Enhancer	Dnd41	blood
32	chr5:71065600-71066600	Enhancers	HUVEC	blood vessel
33	chr5:71069200-71070400	Enhancers	Fetal Brain Female	brain
34	chr5:71070400-71074600	Weak transcription	Fetal Brain Female	brain
35	chr5:71071400-71072000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:71071400-71073600	Enhancers	Brain Germinal Matrix	brain
37	chr5:71071800-71072600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:71072000-71072400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:71072400-71073400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:71072600-71073800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:71073400-71078000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:71073600-71078200	Weak transcription	Brain Germinal Matrix	brain
43	chr5:71074400-71075000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:71074400-71075200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:71074600-71075000	Enhancers	Brain Hippocampus Middle	brain
46	chr5:71074600-71075000	Enhancers	Fetal Brain Female	brain
47	chr5:71075000-71078200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:71075000-71078200	Weak transcription	Fetal Brain Female	brain
49	chr5:71075000-71078400	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:71075200-71078400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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