Variant report

Variant	nsv599195
Chromosome Location	chr5:102982978-103296777
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:43)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103121756..103123783-chr5:103130878..103132420,2	K562	blood:
2	chr5:103008462..103011276-chr5:103015415..103017549,2	K562	blood:
3	chr5:103079665..103081704-chr5:103159850..103162204,2	K562	blood:
4	chr5:103255422..103257271-chr5:103259768..103262225,2	K562	blood:
5	chr5:103249220..103251663-chr5:103417841..103420142,2	K562	blood:
6	chr5:103078614..103081128-chr5:103127289..103130175,2	MCF-7	breast:
7	chr5:103230190..103231786-chr5:103232834..103235097,2	K562	blood:
8	chr5:103076756..103079448-chr5:103079911..103082424,2	K562	blood:
9	chr5:103019253..103022094-chr5:103024105..103026356,2	K562	blood:
10	chr5:103143979..103144697-chr5:103514544..103515454,4	K562	blood:
11	chr5:103002743..103004517-chr5:103013509..103015347,2	K562	blood:
12	chr5:103230190..103231786-chr5:103232834..103235097,2	K562	blood:
13	chr5:103188992..103191440-chr5:103202141..103204319,3	K562	blood:
14	chr5:103079665..103081704-chr5:103159850..103162204,2	K562	blood:
15	chr5:102940725..102941290-chr5:103143888..103144620,2	K562	blood:
16	chr5:103008214..103010707-chr5:103013362..103015145,2	K562	blood:
17	chr5:103255422..103257271-chr5:103259768..103262225,2	K562	blood:
18	chr5:103240624..103244376-chr5:103246546..103249672,3	K562	blood:
19	chr5:103078614..103081128-chr5:103127289..103130175,2	MCF-7	breast:
20	chr5:102977619..102980186-chr5:102981224..102983691,2	K562	blood:
21	chr5:103253901..103255465-chr5:103259944..103261720,2	K562	blood:
22	chr5:103082740..103085193-chr5:103090914..103092473,2	MCF-7	breast:
23	chr5:103200106..103201957-chr5:103202640..103204200,2	K562	blood:
24	chr5:103082740..103085193-chr5:103090914..103092473,2	MCF-7	breast:
25	chr5:103008214..103010707-chr5:103013362..103015145,2	K562	blood:
26	chr5:103242025..103244376-chr5:103246546..103249360,2	K562	blood:
27	chr5:103124246..103125073-chr5:103143511..103144441,2	K562	blood:
28	chr5:103002743..103004517-chr5:103013509..103015347,2	K562	blood:
29	chr5:102918013..102918536-chr5:103143976..103144840,2	MCF-7	breast:
30	chr5:103014005..103016419-chr5:103036291..103038603,2	MCF-7	breast:
31	chr5:103188992..103191440-chr5:103202141..103204319,3	K562	blood:
32	chr5:103121756..103123783-chr5:103130878..103132420,2	K562	blood:
33	chr5:103144212..103144806-chr5:103748305..103749025,2	MCF-7	breast:
34	chr5:103008462..103011276-chr5:103015415..103017549,2	K562	blood:
35	chr5:103019253..103022094-chr5:103024105..103026356,2	K562	blood:
36	chr5:103240624..103244376-chr5:103246546..103249672,3	K562	blood:
37	chr5:102980869..102982874-chr5:102996512..102998702,2	K562	blood:
38	chr5:103253901..103255465-chr5:103259944..103261720,2	K562	blood:
39	chr5:103124246..103125073-chr5:103143511..103144441,2	K562	blood:
40	chr5:103076756..103079448-chr5:103079911..103082424,2	K562	blood:
41	chr5:103200106..103201957-chr5:103202640..103204200,2	K562	blood:
42	chr5:103242025..103244376-chr5:103246546..103249360,2	K562	blood:
43	chr5:103014005..103016419-chr5:103036291..103038603,2	MCF-7	breast:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-9	chr5:103251704-103251784	l_2987_chr5:103244051-103254986_brain
2	lnc-NUDT12-9	chr5:103254932-103254986	l_2987_chr5:103244051-103254986_brain
3	lnc-NUDT12-9	chr5:103249941-103250067	l_2987_chr5:103244051-103254986_brain
4	lnc-NUDT12-3	chr5:103222042-103222168	XLOC_004945
5	lnc-NUDT12-3	chr5:103216345-103217665	XLOC_004945
6	lnc-NUDT12-3	chr5:103222076-103222168	XLOC_004945
7	lnc-NUDT12-3	chr5:103222809-103222876	XLOC_004945
8	lnc-NUDT12-3	chr5:103227033-103227087	XLOC_004945
9	lnc-NUDT12-3	chr5:103222076-103222168	XLOC_004945
10	lnc-NUDT12-3	chr5:103216169-103217665	XLOC_004945
11	lnc-NUDT12-3	chr5:103222809-103222876	XLOC_004945
12	lnc-NUDT12-3	chr5:103216169-103217665	XLOC_004945
13	lnc-NUDT12-9	chr5:103244052-103245564	l_2987_chr5:103244051-103254986_brain
14	lnc-NUDT12-3	chr5:103216345-103217665	XLOC_004945
15	lnc-NUDT12-3	chr5:103222042-103222168	XLOC_004945
16	lnc-NUDT12-3	chr5:103227033-103227087	XLOC_004945

No data

Variant related genes	Relation type
BCL2L11	miRNA target sites

Extended variants
information (count: 6998 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:6998 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11741357	chr5:102982978-102982979	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148686098	chr5:102983030-102983031	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs571299429	chr5:102983067-102983068	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368133969	chr5:102983077-102983078	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs550740096	chr5:102983105-102983106	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567239924	chr5:102983107-102983108	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558464493	chr5:102983125-102983126	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs137960180	chr5:102983133-102983134	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536304138	chr5:102983134-102983135	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs78456195	chr5:102983137-102983138	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs201726360	chr5:102983138-102983139	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs555692416	chr5:102983139-102983140	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs574441959	chr5:102983140-102983141	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs142200365	chr5:102983141-102983142	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs35623903	chr5:102983142-102983143	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs575261913	chr5:102983154-102983155	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs151148746	chr5:102983160-102983161	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs113826308	chr5:102983161-102983162	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs574841015	chr5:102983205-102983206	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs1288868	chr5:102983244-102983245	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532739478	chr5:102983286-102983287	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374889657	chr5:102983293-102983294	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1288869	chr5:102983294-102983295	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188065309	chr5:102983295-102983296	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs180735147	chr5:102983309-102983310	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115135874	chr5:102983347-102983348	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs567204594	chr5:102983355-102983356	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs556977031	chr5:102983357-102983358	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs187237245	chr5:102983361-102983362	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs575348193	chr5:102983425-102983426	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546639378	chr5:102983429-102983430	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs566583840	chr5:102983446-102983447	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs190462064	chr5:102983557-102983558	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs139044278	chr5:102983560-102983561	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs546113365	chr5:102983598-102983599	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs181726432	chr5:102983610-102983611	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs17155622	chr5:102983620-102983621	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554687936	chr5:102983667-102983668	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs574745097	chr5:102983670-102983671	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540408622	chr5:102983704-102983705	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564454700	chr5:102983749-102983750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs573458302	chr5:102983762-102983763	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554219397	chr5:102983763-102983764	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs559434377	chr5:102983764-102983765	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs17165619	chr5:102983773-102983774	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs370067609	chr5:102983793-102983794	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs563029311	chr5:102983834-102983835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576810443	chr5:102983929-102983930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542478145	chr5:102983932-102983933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560737940	chr5:102983946-102983947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:102979800-102983200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:102980800-102985600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:102981000-102983400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:102981000-102985800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:102981200-102983400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:102981200-102984200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:102981200-102986000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:102981400-102985800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:102982200-102983200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:102982200-102983200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:102982200-102984000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:102982200-102985200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:102982400-102983000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr5:102982600-102983200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:102982600-102983400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:102982800-102983000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:102983000-102983200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:102983000-102983400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:102983200-102983600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr5:102983200-102983800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:102983200-102983800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:102983200-102983800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:102983200-102984000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:102983200-102984600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr5:102983400-102984200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:102983600-102984600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:102983800-102985000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:102983800-102985400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:102983800-102985800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:102984000-102985400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:102984000-102990400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:102984200-102985200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:102984200-102985600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:102984600-102985400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr5:102984600-102985400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:102985000-102985600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:102985000-102985800	Enhancers	HUVEC	blood vessel
38	chr5:102985200-102985400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr5:102985200-102985600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:102985200-102985800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:102985400-102985600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr5:102985400-102985600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:102985400-102985600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr5:102985400-102985600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:102985400-102985800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:102985600-102985800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:102985800-102988800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:102985800-102990200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:102988800-102989200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr5:102989200-102990400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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