Variant report

Variant	nsv1035259
Chromosome Location	chr12:61008196-61095254
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:61095133..61097553-chr12:61097984..61100105,2	MCF-7	breast:
2	chr12:61018293..61020271-chr12:61020721..61022454,2	MCF-7	breast:
3	chr12:61083057..61084756-chr12:61085691..61088224,2	MCF-7	breast:
4	chr12:61068552..61070950-chr12:61071562..61073630,2	K562	blood:
5	chr12:61057349..61058143-chr8:92718418..92719083,2	MCF-7	breast:
6	chr12:61018293..61020271-chr12:61020721..61022454,2	MCF-7	breast:
7	chr12:61087880..61090655-chr12:61091873..61094363,2	MCF-7	breast:
8	chr12:61087880..61090655-chr12:61091873..61094363,2	MCF-7	breast:
9	chr12:61082989..61083868-chr12:61821155..61821770,3	MCF-7	breast:
10	chr12:61083057..61084756-chr12:61085691..61088224,2	MCF-7	breast:
11	chr12:61068552..61070950-chr12:61071562..61073630,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A7-7	chr12:61089153-61089356	expReg_chr12_6482_+

No data

Extended variants
information (count: 456 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145340995	chr12:61017024-61017025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs560523802	chr12:61017029-61017030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs189070998	chr12:61017059-61017060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147674371	chr12:61017076-61017077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142400969	chr12:61017148-61017149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs180810943	chr12:61017162-61017163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs575817004	chr12:61017207-61017208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs544851673	chr12:61017244-61017245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs56295986	chr12:61017255-61017256	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574628947	chr12:61017263-61017264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs34412940	chr12:61017288-61017289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577671435	chr12:61017303-61017304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs75998818	chr12:61017306-61017307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs572366333	chr12:61017338-61017339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs149802039	chr12:61017344-61017345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145790709	chr12:61017347-61017348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs34800543	chr12:61017351-61017352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs561150946	chr12:61017383-61017384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs530138231	chr12:61017426-61017427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs370622123	chr12:61017477-61017478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373778286	chr12:61017485-61017486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs562815231	chr12:61017486-61017487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs543630278	chr12:61017498-61017499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs532748172	chr12:61017516-61017517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs552805154	chr12:61017526-61017527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531531889	chr12:61017552-61017553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs571277228	chr12:61017563-61017564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs527410171	chr12:61017578-61017579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs547341307	chr12:61017587-61017588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs186497065	chr12:61017655-61017656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs9704007	chr12:61017660-61017661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs9704463	chr12:61017668-61017669	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563469138	chr12:61017673-61017674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs535877044	chr12:61017685-61017686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs76427760	chr12:61017700-61017701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs549663041	chr12:61017713-61017714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs13092104	chr12:61017726-61017727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs113164752	chr12:61017763-61017764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs538406373	chr12:61017764-61017765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs115386744	chr12:61017768-61017769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs71560739	chr12:61017782-61017783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs111923438	chr12:61017792-61017793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs371146676	chr12:61017811-61017812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs572477725	chr12:61017822-61017823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs34415147	chr12:61017825-61017826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs199763421	chr12:61017850-61017851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs143791347	chr12:61017853-61017854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs555082668	chr12:61017861-61017862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113851651	chr12:61017876-61017877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs2723741	chr12:61017878-61017879	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
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
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	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
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:61017000-61020400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:61021400-61022200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:61023000-61023800	Enhancers	Hela-S3	cervix
4	chr12:61029800-61030200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:61037000-61037400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:61038400-61039200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:61041000-61041200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:61063800-61064600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:61064400-61065600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:61064400-61065600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:61064600-61065200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr12:61065200-61065600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:61065800-61066000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:61066600-61067200	Enhancers	Brain Germinal Matrix	brain
15	chr12:61067200-61068600	Weak transcription	Brain Germinal Matrix	brain
16	chr12:61068600-61069400	Enhancers	Brain Germinal Matrix	brain

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