Variant report

Variant	nsv523946
Chromosome Location	chr5:179092141-179094108
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179037627..179040262-chr5:179091207..179093202,2	K562	blood:
2	chr5:179048865..179051290-chr5:179093625..179096792,3	MCF-7	breast:
3	chr5:179038960..179041938-chr5:179093606..179095921,3	K562	blood:
4	chr5:179038046..179040249-chr5:179091057..179092681,2	K562	blood:
5	chr5:179042046..179045911-chr5:179093714..179097156,4	K562	blood:
6	chr5:179048902..179051476-chr5:179093984..179097643,6	K562	blood:
7	chr5:179049811..179051331-chr5:179093984..179095608,2	K562	blood:
8	chr5:179091330..179094019-chr5:179094233..179096513,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169045	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11249652	chr5:179092141-179092142	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549673137	chr5:179092170-179092171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552318086	chr5:179092173-179092174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566046171	chr5:179092205-179092206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570566860	chr5:179092256-179092257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191574804	chr5:179092278-179092279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573250691	chr5:179092287-179092288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181572058	chr5:179092330-179092331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542159603	chr5:179092360-179092361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370586322	chr5:179092362-179092363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554825772	chr5:179092365-179092366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535000315	chr5:179092399-179092400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534238982	chr5:179092413-179092414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6872891	chr5:179092435-179092436	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6871601	chr5:179092438-179092439	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544693123	chr5:179092510-179092511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562885127	chr5:179092532-179092533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575756661	chr5:179092534-179092535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543732702	chr5:179092539-179092540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537594052	chr5:179092546-179092547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560495438	chr5:179092608-179092609	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs527547466	chr5:179092609-179092610	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs186196255	chr5:179092643-179092644	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs564256980	chr5:179092654-179092655	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142198597	chr5:179092657-179092658	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs201762693	chr5:179092802-179092803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549838448	chr5:179092811-179092812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371621949	chr5:179092821-179092822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375261197	chr5:179092823-179092824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567848279	chr5:179092849-179092850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535059499	chr5:179092863-179092864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554590264	chr5:179092992-179092993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111538260	chr5:179092994-179092995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145947938	chr5:179093002-179093003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71001032	chr5:179093004-179093005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189724992	chr5:179093015-179093016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139150279	chr5:179093026-179093027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73336097	chr5:179093036-179093037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538092517	chr5:179093055-179093056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34010121	chr5:179093064-179093065	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs141599005	chr5:179093089-179093090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6863030	chr5:179093154-179093155	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150408233	chr5:179093191-179093192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572472073	chr5:179093334-179093335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7718486	chr5:179093431-179093432	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs564263588	chr5:179093453-179093454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572039618	chr5:179093462-179093463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531516607	chr5:179093499-179093500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543280187	chr5:179093513-179093514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138122492	chr5:179093563-179093564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179085800-179092200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:179085800-179092200	Weak transcription	Thymus	Thymus
3	chr5:179085800-179099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:179085800-179099400	Weak transcription	Aorta	Aorta
5	chr5:179085800-179103800	Weak transcription	GM12878-XiMat	blood
6	chr5:179085800-179104000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:179085800-179104200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:179085800-179104200	Weak transcription	A549	lung
9	chr5:179085800-179104600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:179085800-179104600	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:179085800-179104600	Weak transcription	Esophagus	oesophagus
12	chr5:179085800-179104600	Weak transcription	Fetal Kidney	kidney
13	chr5:179085800-179104800	Weak transcription	Right Ventricle	heart
14	chr5:179085800-179105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:179086000-179092200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:179086000-179092200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:179086000-179092200	Weak transcription	Osteobl	bone
18	chr5:179086000-179095000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:179086000-179095000	Weak transcription	Right Atrium	heart
20	chr5:179086000-179095200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:179086000-179095200	Weak transcription	K562	blood
22	chr5:179086000-179095400	Weak transcription	Fetal Thymus	thymus
23	chr5:179086000-179095400	Weak transcription	HMEC	breast
24	chr5:179086000-179103600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:179086000-179104000	Weak transcription	Fetal Brain Male	brain
26	chr5:179086000-179104400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:179086000-179104600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:179086000-179104600	Weak transcription	NHEK	skin
29	chr5:179086200-179095000	Weak transcription	HUVEC	blood vessel
30	chr5:179086200-179104200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:179086200-179104600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:179086200-179104800	Weak transcription	Brain Angular Gyrus	brain
33	chr5:179086800-179095200	Strong transcription	Fetal Stomach	stomach
34	chr5:179087000-179092200	Weak transcription	Dnd41	blood
35	chr5:179087000-179093600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:179087800-179093400	Strong transcription	Fetal Intestine Small	intestine
37	chr5:179088200-179093400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:179088600-179093400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:179089600-179093600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:179090000-179093200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:179090000-179093400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr5:179090000-179093400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:179090000-179093400	Strong transcription	Lung	lung
44	chr5:179090000-179093600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:179090200-179092800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:179090200-179093000	Strong transcription	Adipose Nuclei	Adipose
47	chr5:179090200-179093200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:179090200-179093400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:179090200-179093400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:179090400-179092600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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