Variant report

Variant	nsv598229
Chromosome Location	chr5:57309072-57345166
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57312144..57315034-chr5:57754413..57757407,2	MCF-7	breast:
2	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
3	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:
4	chr17:37617529..37618214-chr5:57312142..57313016,2	Hela-S3	cervix:
5	chr5:57345165..57347907-chr5:57349047..57352587,3	MCF-7	breast:
6	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
7	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
8	chr5:57342588..57345255-chr5:57743719..57745899,2	MCF-7	breast:
9	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
10	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
11	chr5:57338299..57341350-chr5:57344603..57346493,3	MCF-7	breast:
12	chr5:57338299..57341350-chr5:57344603..57346493,3	MCF-7	breast:
13	chr5:57334929..57336720-chr5:57754003..57756579,2	MCF-7	breast:
14	chr5:57339273..57341031-chr5:57351169..57352863,2	K562	blood:
15	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
16	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:
17	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
18	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	chromatin interactions
ENSG00000167258	chromatin interactions

Extended variants
information (count: 1018 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1018 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11749915	chr5:57309072-57309073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556937623	chr5:57309075-57309076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578109648	chr5:57309084-57309085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545726530	chr5:57309085-57309086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186659576	chr5:57309215-57309216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190816031	chr5:57309224-57309225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74497302	chr5:57309235-57309236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376838986	chr5:57309255-57309256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374789798	chr5:57309265-57309266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73098879	chr5:57309266-57309267	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546799510	chr5:57309277-57309278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78985912	chr5:57309288-57309289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531878189	chr5:57309293-57309294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528301635	chr5:57309308-57309309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138118329	chr5:57309311-57309312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571459710	chr5:57309371-57309372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11740997	chr5:57309398-57309399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547671978	chr5:57309477-57309478	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543609354	chr5:57309480-57309481	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565610906	chr5:57309516-57309517	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74800226	chr5:57309532-57309533	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530525787	chr5:57309549-57309550	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369132269	chr5:57309550-57309551	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569286972	chr5:57309563-57309564	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538961010	chr5:57309575-57309576	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537195282	chr5:57309577-57309578	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558361590	chr5:57309581-57309582	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183860931	chr5:57309598-57309599	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545225195	chr5:57309631-57309632	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35084925	chr5:57309643-57309644	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397736053	chr5:57309648-57309649	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397965075	chr5:57309649-57309650	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79418354	chr5:57309672-57309673	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188751291	chr5:57309695-57309696	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11960699	chr5:57309750-57309751	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs35264962	chr5:57309752-57309753	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561297437	chr5:57309763-57309764	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73759809	chr5:57309783-57309784	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543904422	chr5:57309794-57309795	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529580726	chr5:57309798-57309799	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565184460	chr5:57309805-57309806	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149167865	chr5:57309836-57309837	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375526237	chr5:57309912-57309913	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559105745	chr5:57309935-57309936	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529964388	chr5:57309954-57309955	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548074961	chr5:57309968-57309969	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11741819	chr5:57309999-57310000	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536603269	chr5:57310033-57310034	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552253822	chr5:57310044-57310045	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555524420	chr5:57310047-57310048	Weak transcription Active TSS Enhancers	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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	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
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	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
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57302600-57315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:57307200-57312600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:57308200-57311200	Weak transcription	Hela-S3	cervix
4	chr5:57308200-57311800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:57308400-57311800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:57309000-57309400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:57309000-57310600	Enhancers	K562	blood
8	chr5:57309400-57310600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:57309600-57314400	Weak transcription	Fetal Heart	heart
10	chr5:57310200-57310800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:57310600-57310800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:57310600-57311400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:57310800-57312400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:57311200-57311400	Enhancers	Left Ventricle	heart
15	chr5:57311200-57312400	Enhancers	Hela-S3	cervix
16	chr5:57311400-57312200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:57311400-57315400	Weak transcription	Left Ventricle	heart
18	chr5:57311800-57312600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:57311800-57312800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:57311800-57312800	Enhancers	HSMM	muscle
21	chr5:57311800-57313000	Enhancers	HMEC	breast
22	chr5:57311800-57313200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:57311800-57314200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:57311800-57314400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:57312000-57313000	Enhancers	HSMMtube	muscle
26	chr5:57312000-57314400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:57312000-57315400	Weak transcription	Aorta	Aorta
28	chr5:57312200-57313000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:57312200-57313000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:57312200-57313200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr5:57312400-57312600	Enhancers	Fetal Muscle Leg	muscle
32	chr5:57312400-57312600	Enhancers	Psoas Muscle	Psoas
33	chr5:57312400-57312800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:57312400-57312800	Enhancers	Placenta	Placenta
35	chr5:57312400-57312800	Flanking Active TSS	Hela-S3	cervix
36	chr5:57312400-57313000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:57312400-57313600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:57312400-57313600	Enhancers	Brain Germinal Matrix	brain
39	chr5:57312600-57313000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:57312600-57315400	Weak transcription	Psoas Muscle	Psoas
41	chr5:57312800-57313800	Enhancers	Fetal Lung	lung
42	chr5:57312800-57316200	Enhancers	Hela-S3	cervix
43	chr5:57312800-57317000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:57312800-57317200	Weak transcription	Placenta	Placenta
45	chr5:57313200-57314600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr5:57313800-57314600	Weak transcription	Fetal Lung	lung
47	chr5:57314000-57314200	Enhancers	Spleen	Spleen
48	chr5:57314200-57315400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:57314400-57314800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:57314400-57316000	Weak transcription	Spleen	Spleen

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