Variant report

Variant	nsv968127
Chromosome Location	chr5:179929238-179931541
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	chr5:179928152..179929958-chr6:152022823..152024616,2	MCF-7	breast:
2	chr5:179926836..179929553-chr5:179936130..179939014,2	MCF-7	breast:
3	chr5:179926447..179929444-chr5:180030197..180034087,3	MCF-7	breast:
4	chr5:179925134..179926691-chr5:179928454..179930583,2	K562	blood:
5	chr5:179922992..179929395-chr5:179931202..179936163,8	K562	blood:
6	chr5:179928367..179929867-chr8:141667673..141670357,2	MCF-7	breast:
7	chr5:179922992..179929395-chr5:179931202..179936163,8	K562	blood:
8	chr5:179929128..179931609-chr5:179936210..179937731,2	K562	blood:

No data

Extended variants
information (count: 85 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570301881	chr5:179929241-179929242	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182299280	chr5:179929258-179929259	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554405117	chr5:179929308-179929309	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536061708	chr5:179929324-179929325	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73812320	chr5:179929343-179929344	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs149170884	chr5:179929365-179929366	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377673550	chr5:179929371-179929372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72811146	chr5:179929386-179929387	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574977467	chr5:179929531-179929532	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59161500	chr5:179929554-179929555	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544320110	chr5:179929560-179929561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190312746	chr5:179929660-179929661	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149662240	chr5:179929677-179929678	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs68113477	chr5:179929678-179929679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs70973917	chr5:179929680-179929681	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34884005	chr5:179929700-179929701	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34917374	chr5:179929707-179929708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529942829	chr5:179929729-179929730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181402393	chr5:179929730-179929731	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139005230	chr5:179929773-179929774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17630549	chr5:179929825-179929826	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142586841	chr5:179929841-179929842	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552571434	chr5:179929881-179929882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185490037	chr5:179929892-179929893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538320258	chr5:179929896-179929897	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368320756	chr5:179929906-179929907	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7723088	chr5:179929919-179929920	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375443283	chr5:179929980-179929981	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568471402	chr5:179930021-179930022	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190061067	chr5:179930064-179930065	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369983992	chr5:179930089-179930090	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542548176	chr5:179930098-179930099	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577086960	chr5:179930102-179930103	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11739096	chr5:179930106-179930107	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs180964384	chr5:179930137-179930138	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574938248	chr5:179930181-179930182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543966030	chr5:179930215-179930216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199967026	chr5:179930262-179930263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535012411	chr5:179930263-179930264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561000288	chr5:179930267-179930268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11745477	chr5:179930407-179930408	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547049470	chr5:179930412-179930413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560405209	chr5:179930413-179930414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532434200	chr5:179930427-179930428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562261027	chr5:179930454-179930455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185984909	chr5:179930476-179930477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201245843	chr5:179930485-179930486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10903256	chr5:179930511-179930512	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190661870	chr5:179930513-179930514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548294832	chr5:179930516-179930517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179923000-179934600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:179923200-179936400	Weak transcription	Fetal Intestine Large	intestine
3	chr5:179923400-179946000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:179923600-179929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:179923600-179930400	Weak transcription	NHLF	lung
6	chr5:179923600-179931200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:179923600-179932800	Weak transcription	Right Ventricle	heart
8	chr5:179923600-179933400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:179923600-179933800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:179923600-179934400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:179923600-179934400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:179923600-179942000	Weak transcription	Spleen	Spleen
13	chr5:179923600-179949800	Weak transcription	Gastric	stomach
14	chr5:179923600-179949800	Weak transcription	Psoas Muscle	Psoas
15	chr5:179923600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:179923800-179931000	Weak transcription	Osteobl	bone
17	chr5:179923800-179932800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:179923800-179933000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr5:179923800-179934600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:179923800-179935400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:179923800-179941200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:179924000-179933000	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:179924000-179933400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:179924000-179934600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr5:179924000-179934600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:179924000-179935200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:179924000-179948000	Weak transcription	A549	lung
28	chr5:179924000-179949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:179924200-179933400	Weak transcription	Fetal Heart	heart
30	chr5:179924200-179949200	Weak transcription	Pancreas	Pancrea
31	chr5:179924200-179949600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:179924200-179950000	Weak transcription	Brain Angular Gyrus	brain
33	chr5:179924400-179933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:179924600-179930000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:179924600-179930800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:179924600-179934000	Weak transcription	HSMM	muscle
37	chr5:179924600-179941600	Weak transcription	Brain Germinal Matrix	brain
38	chr5:179924600-179944800	Weak transcription	Fetal Brain Male	brain
39	chr5:179924600-179944800	Weak transcription	Fetal Lung	lung
40	chr5:179924600-179949800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:179924600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:179924800-179932800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr5:179925000-179929400	Strong transcription	GM12878-XiMat	blood
44	chr5:179925000-179936200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:179925400-179929600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr5:179925600-179930800	Weak transcription	HepG2	liver
47	chr5:179925600-179933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:179925600-179933400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:179925600-179943800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:179925600-179945600	Weak transcription	Lung	lung

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