Variant report

Variant	nsv599407
Chromosome Location	chr5:112981528-113029914
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:0)
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	chr1:45196024..45196999-chr5:113026387..113027407,8	HCT-116	colon:
2	chr1:45194854..45196880-chr5:113025407..113026907,3	K562	blood:
3	chr5:113014328..113015260-chr5:114404740..114405272,3	K562	blood:
4	chr5:113014588..113015273-chr5:113139880..113140620,2	MCF-7	breast:
5	chr5:112961563..112964546-chr5:112979790..112981581,2	K562	blood:
6	chr5:113014764..113015273-chr5:114921864..114922498,2	K562	blood:
7	chr5:112947373..112947957-chr5:112999447..113000233,2	MCF-7	breast:
8	chr5:113017956..113018778-chr5:113092950..113093675,3	MCF-7	breast:
9	chr5:113009046..113010740-chr5:113010923..113013533,2	K562	blood:
10	chr5:113014270..113015078-chr5:113785506..113786463,2	MCF-7	breast:
11	chr1:45195240..45197624-chr5:113025407..113028387,4	K562	blood:
12	chr5:113017877..113018838-chr5:113139684..113140688,6	MCF-7	breast:
13	chr5:113009046..113010740-chr5:113010923..113013533,2	K562	blood:
14	chr5:113017961..113018794-chr5:113092959..113093884,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200169	chromatin interactions

Extended variants
information (count: 1217 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1217 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192038427	chr5:112995208-112995209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549651425	chr5:112995210-112995211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560924763	chr5:112995217-112995218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376326120	chr5:112995243-112995244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569430966	chr5:112995253-112995254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539675295	chr5:112995305-112995306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539079391	chr5:112995307-112995308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527985442	chr5:112995313-112995314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558017371	chr5:112995347-112995348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77879856	chr5:112995352-112995353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533906251	chr5:112995353-112995354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555733012	chr5:112995354-112995355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111393069	chr5:112995358-112995359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2914163	chr5:112995414-112995415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544680936	chr5:112995420-112995421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62373828	chr5:112995489-112995490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183800944	chr5:112995514-112995515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75528187	chr5:112995536-112995537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545257472	chr5:112995539-112995540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11747724	chr5:112995542-112995543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs113005379	chr5:112995563-112995564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80219476	chr5:112995620-112995621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189156786	chr5:112995632-112995633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547540136	chr5:112995654-112995655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73779317	chr5:112995676-112995677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531256812	chr5:112995684-112995685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373462945	chr5:112995736-112995737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs728915	chr5:112995748-112995749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143052762	chr5:112995758-112995759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10072756	chr5:112995775-112995776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs566774685	chr5:112995797-112995798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6594746	chr5:112995895-112995896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs534229084	chr5:112995946-112995947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555823572	chr5:112995958-112995959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190660060	chr5:112995986-112995987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567316403	chr5:112996002-112996003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35112652	chr5:112996024-112996025	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556605164	chr5:112996102-112996103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182346342	chr5:112996153-112996154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545195827	chr5:112996182-112996183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554019913	chr5:112996193-112996194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7707681	chr5:112996226-112996227	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542905593	chr5:112996254-112996255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79112299	chr5:112996266-112996267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531323465	chr5:112996273-112996274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6888570	chr5:112996379-112996380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541578657	chr5:112996388-112996389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564612430	chr5:112996407-112996408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532083365	chr5:112996411-112996412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187014636	chr5:112996425-112996426	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112995200-112995400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112995200-112996400	Enhancers	Fetal Brain Male	brain
3	chr5:112995600-112996200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:112995600-112996400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:112995600-112996800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:112995800-112996200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:112995800-112996200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:112995800-112996200	Enhancers	Fetal Brain Female	brain
9	chr5:112996000-112996800	Enhancers	Fetal Muscle Leg	muscle
10	chr5:113002000-113007400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:113007000-113008400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:113007200-113007400	Enhancers	Ovary	ovary
13	chr5:113007400-113008800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:113008800-113009600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:113009600-113011200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:113009600-113011400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:113009800-113011400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr5:113010200-113011200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr5:113010400-113011200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr5:113010400-113011200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:113010800-113011200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:113010800-113011200	Enhancers	HMEC	breast
23	chr5:113011000-113011200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:113011200-113013000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:113011200-113013200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:113011200-113014200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:113011200-113015000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:113011400-113014200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:113011400-113014400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:113011400-113014800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:113012000-113012600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:113012600-113018400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:113013000-113013400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:113013200-113013600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:113013200-113015400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:113013400-113014600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:113013600-113014000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:113013600-113014600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:113014000-113014400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:113014200-113014800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:113014200-113016000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:113014400-113014600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:113014400-113015200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:113014400-113015400	Enhancers	Fetal Brain Male	brain
45	chr5:113014400-113015600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:113014400-113015800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:113014400-113016000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:113014600-113015400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:113014600-113015600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:113014600-113016600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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