Variant report

Variant	nsv729
Chromosome Location	chr12:58490094-58535466
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:18)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58474355..58476950-chr12:58494069..58496822,2	MCF-7	breast:
2	chr11:62607619..62609220-chr12:58516927..58518437,3	MCF-7	breast:
3	chr12:58518437..58519937-chr17:41398650..41400282,2	K562	blood:
4	chr12:58517945..58518445-chr14:87102303..87102807,2	Hela-S3	cervix:
5	chr12:58492799..58495914-chr12:58496910..58499926,3	K562	blood:
6	chr12:58516945..58519917-chr17:41466381..41467898,2	K562	blood:
7	chr12:58516917..58519927-chr17:41462306..41466156,7	K562	blood:
8	chr12:58531490..58533635-chr12:58540343..58542595,2	MCF-7	breast:
9	chr12:58518417..58519927-chr17:41463871..41467581,3	MCF-7	breast:
10	chr12:58516925..58518425-chr17:41438461..41440788,2	MCF-7	breast:
11	chr12:58535254..58536845-chr12:58540907..58543289,2	K562	blood:
12	chr12:58516917..58519927-chr17:41462306..41466299,7	K562	blood:
13	chr12:58492799..58495914-chr12:58496910..58499926,3	K562	blood:
14	chr12:58516937..58519947-chr17:41380326..41383375,3	K562	blood:
15	chr12:58516937..58518437-chr17:41400928..41402668,2	MCF-7	breast:
16	chr12:58499355..58500140-chr12:58570317..58570835,2	MCF-7	breast:
17	chr12:58386891..58387425-chr12:58499275..58499786,2	MCF-7	breast:
18	chr12:58516917..58519917-chr3:73158604..73161610,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTDSP2-4	chr12:58491564-58491865	NONHSAT029017
2	lnc-XRCC6BP1-6	chr12:58497690-58499718	NONHSAT029021
3	lnc-CTDSP2-4	chr12:58490532-58491796	NONHSAT029020
4	lnc-CTDSP2-4	chr12:58491565-58491865	XLOC_010104
5	lnc-CTDSP2-4	chr12:58488697-58491796	ENSG00000264432.1

No data

Variant related genes	Relation type
ENSG00000223247	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 822 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:822 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560783028	chr12:58490198-58490199	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs265575	chr12:58490226-58490227	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2088987	chr12:58490230-58490231	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs111416208	chr12:58490232-58490233	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs186420185	chr12:58490233-58490234	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs563600505	chr12:58490271-58490272	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs560850385	chr12:58490276-58490277	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs372304201	chr12:58490279-58490280	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs192510082	chr12:58490286-58490287	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs573452357	chr12:58490292-58490293	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs540863061	chr12:58490293-58490294	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs182368273	chr12:58490322-58490323	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs552579898	chr12:58490332-58490333	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs187907906	chr12:58490360-58490361	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs544233854	chr12:58490362-58490363	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs566074771	chr12:58490396-58490397	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs191048801	chr12:58490409-58490410	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs199559196	chr12:58490425-58490426	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs551483680	chr12:58490428-58490429	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs566654998	chr12:58490429-58490430	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs183356939	chr12:58490483-58490484	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs370184181	chr12:58490484-58490485	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs187114089	chr12:58490493-58490494	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs265576	chr12:58490498-58490499	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs376931413	chr12:58490499-58490500	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs35038724	chr12:58490503-58490504	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs138260831	chr12:58490535-58490536	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs115742944	chr12:58490561-58490562	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs265577	chr12:58490626-58490627	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553888525	chr12:58490629-58490630	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs572210492	chr12:58490643-58490644	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs574349227	chr12:58490670-58490671	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs265578	chr12:58490674-58490675	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs265579	chr12:58490691-58490692	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs544905694	chr12:58490695-58490696	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs562713583	chr12:58490702-58490703	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs149559037	chr12:58490743-58490744	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs545036781	chr12:58490764-58490765	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs560205268	chr12:58490792-58490793	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs527830300	chr12:58490795-58490796	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs116175991	chr12:58490799-58490800	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs265580	chr12:58490832-58490833	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192055285	chr12:58490856-58490857	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs550025625	chr12:58490868-58490869	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs115219813	chr12:58490900-58490901	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs73095865	chr12:58490914-58490915	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114055397	chr12:58490939-58490940	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs114668858	chr12:58490964-58490965	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs536362549	chr12:58491010-58491011	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs148475130	chr12:58491079-58491080	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58488400-58491800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:58491800-58494200	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr12:58492800-58493400	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr12:58496400-58496800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:58496800-58497000	Enhancers	Pancreas	Pancrea
6	chr12:58496800-58497000	Enhancers	Right Ventricle	heart
7	chr12:58496800-58499800	Enhancers	Fetal Muscle Leg	muscle
8	chr12:58497000-58497800	Weak transcription	Pancreas	Pancrea
9	chr12:58497200-58498400	Weak transcription	Right Ventricle	heart
10	chr12:58497600-58497800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:58497800-58498000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr12:58497800-58498200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr12:58497800-58499200	Enhancers	Pancreas	Pancrea
14	chr12:58498000-58498400	Enhancers	Fetal Heart	heart
15	chr12:58498000-58498400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr12:58498200-58498400	Enhancers	Left Ventricle	heart
17	chr12:58498200-58498600	Enhancers	HSMMtube	muscle
18	chr12:58498200-58499000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:58498400-58498600	Enhancers	Right Ventricle	heart
20	chr12:58498400-58499000	Weak transcription	Left Ventricle	heart
21	chr12:58498400-58499000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr12:58498400-58499800	Enhancers	Psoas Muscle	Psoas
23	chr12:58498600-58499200	Weak transcription	Right Ventricle	heart
24	chr12:58499000-58499600	Enhancers	Left Ventricle	heart
25	chr12:58499000-58499600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr12:58499000-58499600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:58499400-58499600	Enhancers	Right Ventricle	heart
28	chr12:58499600-58499800	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr12:58499600-58500800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:58499800-58500600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:58500600-58501200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr12:58510800-58511400	Enhancers	Dnd41	blood
33	chr12:58511400-58511800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:58513000-58514000	Enhancers	Ovary	ovary
35	chr12:58514000-58514200	Enhancers	Psoas Muscle	Psoas
36	chr12:58514000-58517000	Weak transcription	Ovary	ovary
37	chr12:58514200-58517000	Weak transcription	Psoas Muscle	Psoas
38	chr12:58514400-58514800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr12:58514400-58515000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr12:58517000-58517400	Active TSS	Ovary	ovary
41	chr12:58524400-58527200	Enhancers	Fetal Lung	lung
42	chr12:58525400-58526200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:58530400-58531600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:58531600-58532000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:58532000-58532400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:58532000-58533600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:58532000-58535000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:58532200-58532600	Enhancers	Fetal Lung	lung
49	chr12:58532200-58532800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:58532200-58534600	Enhancers	HUES64 Cell Line	embryonic stem cell

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