Variant report

Variant	nsv5072
Chromosome Location	chr5:151490271-151530419
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:151491359..151493092-chr5:151503050..151505750,2	K562	blood:
2	chr5:151160169..151163153-chr5:151522448..151524598,2	K562	blood:
3	chr5:151513671..151516215-chr5:151517705..151520059,3	K562	blood:
4	chr5:151204677..151205872-chr5:151522532..151523052,3	MCF-7	breast:
5	chr5:151522076..151522840-chr5:151650800..151651429,3	MCF-7	breast:
6	chr5:151302299..151302849-chr5:151522311..151522997,2	MCF-7	breast:
7	chr5:151523886..151524850-chr5:151572559..151573494,21	MCF-7	breast:
8	chr5:151523879..151524822-chr5:151665463..151666473,3	MCF-7	breast:
9	chr5:151484112..151485634-chr5:151524575..151526562,2	K562	blood:
10	chr5:151497548..151500233-chr5:151502295..151503821,2	MCF-7	breast:
11	chr5:151522783..151523283-chr8:54673594..54674407,2	NB4	blood:
12	chr5:151513671..151516215-chr5:151517705..151520059,3	K562	blood:
13	chr5:151497548..151500233-chr5:151502295..151503821,2	MCF-7	breast:
14	chr5:151523874..151524433-chr5:151668425..151669088,2	MCF-7	breast:
15	chr5:151523925..151524850-chr5:151572610..151573431,6	MCF-7	breast:
16	chr5:151523912..151524811-chr5:151568652..151569394,2	MCF-7	breast:
17	chr5:151522014..151522696-chr5:151729134..151730175,3	MCF-7	breast:
18	chr5:151204736..151205618-chr5:151521905..151522989,3	MCF-7	breast:
19	chr5:151524627..151526976-chr5:151527410..151529295,2	K562	blood:
20	chr5:151524627..151526976-chr5:151527410..151529295,2	K562	blood:
21	chr5:151509815..151512281-chr5:151517345..151519719,2	MCF-7	breast:
22	chr5:151520907..151523004-chr5:151546531..151548901,2	K562	blood:
23	chr5:151303110..151303991-chr5:151522441..151523040,2	MCF-7	breast:
24	chr5:151471064..151473858-chr5:151493966..151496756,2	MCF-7	breast:
25	chr5:151204595..151205535-chr5:151522142..151523020,2	K562	blood:
26	chr5:151150191..151152730-chr5:151495520..151497974,2	MCF-7	breast:
27	chr5:151471420..151474359-chr5:151488636..151491340,2	K562	blood:
28	chr5:151509815..151512281-chr5:151517345..151519719,2	MCF-7	breast:
29	chr5:151513919..151516215-chr5:151517657..151519224,2	K562	blood:
30	chr5:151523917..151524489-chr5:151572860..151573489,2	MCF-7	breast:
31	chr5:151491359..151493092-chr5:151503050..151505750,2	K562	blood:
32	chr5:151303407..151303946-chr5:151522386..151523026,2	MCF-7	breast:
33	chr5:151523242..151525301-chr5:151526406..151528109,3	MCF-7	breast:
34	chr5:151513919..151516215-chr5:151517657..151519224,2	K562	blood:
35	chr5:151523242..151525301-chr5:151526406..151528109,3	MCF-7	breast:
36	chr5:151523874..151524765-chr5:151668143..151669088,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177556	chromatin interactions
ENSG00000145907	chromatin interactions

Extended variants
information (count: 1266 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1266 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62394632	chr5:151490282-151490283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148780269	chr5:151490379-151490380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567273084	chr5:151490505-151490506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534924351	chr5:151490526-151490527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187531081	chr5:151490534-151490535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34406344	chr5:151490692-151490693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142446371	chr5:151490701-151490702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs60315769	chr5:151490720-151490721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191418627	chr5:151490748-151490749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576494371	chr5:151490752-151490753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150897569	chr5:151490865-151490866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555800021	chr5:151490877-151490878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557491493	chr5:151490888-151490889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57087504	chr5:151490889-151490890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78765066	chr5:151490890-151490891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78404779	chr5:151490902-151490903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397881981	chr5:151490904-151490905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574210993	chr5:151490962-151490963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541722898	chr5:151490988-151490989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559659955	chr5:151491103-151491104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578143857	chr5:151491114-151491115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544686228	chr5:151491144-151491145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376885370	chr5:151491208-151491209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370005264	chr5:151491209-151491210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11959433	chr5:151491242-151491243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548525752	chr5:151491246-151491247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139418905	chr5:151491278-151491279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528342024	chr5:151491301-151491302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529153870	chr5:151491356-151491357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546895817	chr5:151491437-151491438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149867770	chr5:151491442-151491443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80044203	chr5:151491498-151491499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551900930	chr5:151491513-151491514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537943822	chr5:151491551-151491552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183861704	chr5:151491650-151491651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549614633	chr5:151491716-151491717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537551952	chr5:151491718-151491719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568007574	chr5:151491725-151491726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142054436	chr5:151491729-151491730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs434926	chr5:151491739-151491740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534983249	chr5:151491761-151491762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188635654	chr5:151491788-151491789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528517107	chr5:151491810-151491811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114595249	chr5:151491842-151491843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181370133	chr5:151491853-151491854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574956720	chr5:151491877-151491878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73274903	chr5:151491956-151491957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs410723	chr5:151491976-151491977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs144340355	chr5:151491978-151491979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147818149	chr5:151491986-151491987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Renal cell carcinoma	18592004	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Parkinson disease	21829596	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151488400-151492600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:151492600-151493200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr5:151492600-151493200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:151492800-151493000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr5:151492800-151493000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:151492800-151493400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:151492800-151493400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:151493400-151495000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:151496400-151496800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:151497200-151498400	Enhancers	Placenta	Placenta
11	chr5:151497600-151499400	Enhancers	Fetal Lung	lung
12	chr5:151497600-151499800	Enhancers	Fetal Muscle Leg	muscle
13	chr5:151498000-151499400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:151498000-151499400	Enhancers	HSMMtube	muscle
15	chr5:151498000-151499600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:151498000-151499800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:151498200-151499000	Enhancers	Fetal Muscle Trunk	muscle
18	chr5:151498200-151499200	Enhancers	Brain Germinal Matrix	brain
19	chr5:151498600-151499200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:151498600-151499200	Enhancers	Fetal Brain Female	brain
21	chr5:151498600-151499200	Enhancers	Ovary	ovary
22	chr5:151498600-151499200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:151498800-151499000	Enhancers	Lung	lung
24	chr5:151498800-151499200	Enhancers	Fetal Brain Male	brain
25	chr5:151498800-151499200	Enhancers	Right Atrium	heart
26	chr5:151499000-151499200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr5:151499000-151499400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr5:151499200-151502600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:151499200-151502800	Weak transcription	Ovary	ovary
30	chr5:151499400-151502800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:151499400-151503200	Weak transcription	Fetal Lung	lung
32	chr5:151499600-151502600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:151499800-151503200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:151502600-151505600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:151502600-151506200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:151502800-151504600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr5:151502800-151504600	Enhancers	Ovary	ovary
38	chr5:151502800-151504800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:151502800-151505000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:151502800-151505000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:151502800-151505600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:151503000-151504000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr5:151503000-151504400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:151503000-151504400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:151503200-151503800	Enhancers	Fetal Lung	lung
46	chr5:151503200-151504200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:151503200-151504400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:151503400-151503800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr5:151503400-151504400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr5:151503600-151504000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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