Variant report

Variant	nsv462476
Chromosome Location	chr5:145604635-145622472
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:145612339..145614307-chr5:145615895..145618813,2	MCF-7	breast:
2	chr5:145596117..145598265-chr5:145605012..145606909,2	K562	blood:
3	chr5:145615949..145618767-chr5:145647272..145650054,2	K562	blood:
4	chr5:145601632..145604303-chr5:145605562..145607960,2	MCF-7	breast:
5	chr5:145560154..145562997-chr5:145607826..145610384,3	K562	blood:
6	chr5:145607480..145610119-chr5:145611867..145613573,2	MCF-7	breast:
7	chr5:145587290..145589374-chr5:145604476..145606867,3	K562	blood:
8	chr5:145612339..145614307-chr5:145615895..145618813,2	MCF-7	breast:
9	chr5:145607480..145610119-chr5:145611867..145613573,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133706	chromatin interactions

Extended variants
information (count: 693 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:693 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11953506	chr5:145604635-145604636	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566513866	chr5:145604655-145604656	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191068847	chr5:145604694-145604695	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181926752	chr5:145604740-145604741	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568995988	chr5:145604762-145604763	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537215257	chr5:145604848-145604849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557566446	chr5:145604878-145604879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577446731	chr5:145604893-145604894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371601129	chr5:145604974-145604975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535415574	chr5:145605034-145605035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555086593	chr5:145605067-145605068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552943278	chr5:145605093-145605094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186166284	chr5:145605121-145605122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570563694	chr5:145605124-145605125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541826670	chr5:145605131-145605132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58470060	chr5:145605136-145605137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397884576	chr5:145605147-145605148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553224633	chr5:145605199-145605200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57386180	chr5:145605205-145605206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575064218	chr5:145605214-145605215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575725831	chr5:145605252-145605253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544051176	chr5:145605292-145605293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564350784	chr5:145605381-145605382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533066706	chr5:145605389-145605390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111916604	chr5:145605395-145605396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537372295	chr5:145605403-145605404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377680892	chr5:145605420-145605421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560466076	chr5:145605457-145605458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528866040	chr5:145605471-145605472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549015476	chr5:145605476-145605477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568845177	chr5:145605480-145605481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370968785	chr5:145605484-145605485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537974523	chr5:145605486-145605487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs67859456	chr5:145605494-145605495	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577064669	chr5:145605514-145605515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149156774	chr5:145605528-145605529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559540180	chr5:145605534-145605535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376027588	chr5:145605592-145605593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538285004	chr5:145605593-145605594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11291937	chr5:145605609-145605610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553206824	chr5:145605619-145605620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375358822	chr5:145605632-145605633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368018791	chr5:145605646-145605647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143282661	chr5:145605694-145605695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79784579	chr5:145605722-145605723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569449944	chr5:145605744-145605745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575643552	chr5:145605752-145605753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544732057	chr5:145605881-145605882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564432957	chr5:145606062-145606063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370463243	chr5:145606073-145606074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145584400-145606600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:145584600-145606400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:145584800-145608000	Weak transcription	Esophagus	oesophagus
4	chr5:145584800-145631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:145585200-145609200	Weak transcription	Brain Anterior Caudate	brain
6	chr5:145585400-145609000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:145585600-145610200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:145586400-145616800	Weak transcription	Right Ventricle	heart
9	chr5:145588200-145608000	Weak transcription	Gastric	stomach
10	chr5:145588200-145609200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:145589000-145633200	Weak transcription	Brain Angular Gyrus	brain
12	chr5:145589200-145615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:145589400-145610200	Weak transcription	Fetal Kidney	kidney
14	chr5:145589600-145606200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:145589600-145611600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:145593200-145615400	Weak transcription	Brain Substantia Nigra	brain
17	chr5:145593400-145651000	Weak transcription	Stomach Mucosa	stomach
18	chr5:145593800-145608000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:145594400-145609400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:145594600-145624200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:145594800-145608000	Weak transcription	Lung	lung
22	chr5:145595200-145608000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:145595600-145611400	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:145596400-145616400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:145596600-145610400	Weak transcription	Spleen	Spleen
26	chr5:145596800-145609400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr5:145597000-145668400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:145597200-145610800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:145597200-145616800	Weak transcription	NHDF-Ad	bronchial
30	chr5:145597200-145640600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:145597600-145610000	Weak transcription	Small Intestine	intestine
32	chr5:145597800-145617000	Weak transcription	HSMMtube	muscle
33	chr5:145598000-145607400	Strong transcription	GM12878-XiMat	blood
34	chr5:145598000-145627200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr5:145598000-145632200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:145598200-145608800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:145598200-145623600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:145598200-145640400	Weak transcription	Psoas Muscle	Psoas
39	chr5:145598400-145610000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:145598400-145629600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:145598400-145640400	Weak transcription	Fetal Heart	heart
42	chr5:145598600-145621800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr5:145598800-145605000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:145598800-145608600	Weak transcription	HUVEC	blood vessel
45	chr5:145598800-145619800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:145598800-145620800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:145598800-145640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:145599200-145606400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:145599200-145609200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:145599400-145608200	Weak transcription	Ovary	ovary

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