Variant report

Variant	nsv1052513
Chromosome Location	chr12:85721058-85799332
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:9)
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	chr12:85470147..85471061-chr12:85788737..85789303,2	MCF-7	breast:
2	chr12:85712831..85715377-chr12:85729265..85730997,2	MCF-7	breast:
3	chr12:85745803..85747917-chr12:85750722..85752952,2	MCF-7	breast:
4	chr12:85745803..85747917-chr12:85750722..85752952,2	MCF-7	breast:
5	chr12:85713980..85716222-chr12:85718443..85721765,3	MCF-7	breast:
6	chr12:85767120..85767969-chr12:85795392..85796211,2	MCF-7	breast:
7	chr12:85735992..85737956-chr12:85742669..85744404,2	MCF-7	breast:
8	chr12:85704213..85704892-chr12:85788326..85789139,2	MCF-7	breast:
9	chr12:85767120..85767969-chr12:85795392..85796211,2	MCF-7	breast:
10	chr12:85703964..85704769-chr12:85788512..85789218,4	MCF-7	breast:
11	chr12:85735992..85737956-chr12:85742669..85744404,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALX1-2	chr12:85763589-85763622	XLOC_009820
2	lnc-ALX1-2	chr12:85793175-85793388	NONHSAT029751
3	lnc-ALX1-1	chr12:85736250-85736690	ENSG00000258815
4	lnc-ALX1-2	chr12:85763588-85763622	NONHSAT029751
5	lnc-ALX1-2	chr12:85793271-85793388	XLOC_009820
6	lnc-ALX1-1	chr12:85736216-85736970	NONHSAT029749
7	lnc-ALX1-2	chr12:85793271-85793388	NONHSAT029750
8	lnc-ALX1-2	chr12:85759621-85759721	NONHSAT029750
9	lnc-ALX1-1	chr12:85733174-85733276	NONHSAT029749

No data

Variant related genes	Relation type
KCNK1	miRNA target sites
ID4	miRNA target sites

Extended variants
information (count: 1219 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1219 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540138129	chr12:85733220-85733221	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs192643227	chr12:85733221-85733222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs557860826	chr12:85733272-85733273	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs369475178	chr12:85736217-85736218	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs560728782	chr12:85736221-85736222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs377088931	chr12:85736233-85736234	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs148793901	chr12:85736272-85736273	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs148936825	chr12:85736370-85736371	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs542833966	chr12:85736425-85736426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs561211466	chr12:85736452-85736453	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs566674943	chr12:85736456-85736457	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs189836932	chr12:85736469-85736470	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs549716416	chr12:85736476-85736477	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs10862971	chr12:85736477-85736478	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563178604	chr12:85736486-85736487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs547606708	chr12:85736543-85736544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs118121521	chr12:85736545-85736546	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs61930612	chr12:85736547-85736548	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs536034555	chr12:85736623-85736624	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs549038214	chr12:85736626-85736627	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs561436894	chr12:85736660-85736661	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs376899014	chr12:85736661-85736662	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs569927340	chr12:85736691-85736692	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs537346801	chr12:85736769-85736770	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs558583931	chr12:85736783-85736784	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs576805012	chr12:85736870-85736871	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs534701435	chr12:85736904-85736905	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs79730783	chr12:85736914-85736915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs574491465	chr12:85736932-85736933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs373852034	chr12:85736961-85736962	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs561149246	chr12:85736964-85736965	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs560380119	chr12:85744016-85744017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527988134	chr12:85744087-85744088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527903223	chr12:85744105-85744106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192138817	chr12:85744146-85744147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10862973	chr12:85744217-85744218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12309511	chr12:85744256-85744257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12309525	chr12:85744304-85744305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560986938	chr12:85744392-85744393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77382217	chr12:85744405-85744406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201645267	chr12:85744414-85744415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531676330	chr12:85744425-85744426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200788469	chr12:85744434-85744435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201789998	chr12:85744435-85744436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537214106	chr12:85744436-85744437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs398020409	chr12:85744449-85744450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183808382	chr12:85744491-85744492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188628176	chr12:85744492-85744493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576293990	chr12:85744518-85744519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146227611	chr12:85744521-85744522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85744000-85744600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:85744200-85744400	Enhancers	Fetal Lung	lung
3	chr12:85744200-85744600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:85744400-85745800	Weak transcription	Fetal Lung	lung
5	chr12:85744600-85745800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:85744600-85750000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:85745800-85746400	Enhancers	Fetal Lung	lung
8	chr12:85746000-85746200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:85746400-85749400	Weak transcription	Fetal Lung	lung
10	chr12:85749400-85752600	Enhancers	Fetal Lung	lung
11	chr12:85749800-85751200	Enhancers	HUVEC	blood vessel
12	chr12:85750000-85750600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:85750000-85750800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:85750000-85751400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:85750200-85750800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:85750200-85750800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:85750200-85751000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:85750400-85751000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:85750400-85751000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:85750800-85751000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:85750800-85751600	Enhancers	Fetal Kidney	kidney
22	chr12:85750800-85752200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:85751000-85751800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:85751000-85752200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:85751200-85756600	Weak transcription	HUVEC	blood vessel
26	chr12:85751800-85752600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:85752200-85752600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:85752400-85752600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:85756600-85758400	Enhancers	HUVEC	blood vessel
30	chr12:85761400-85762000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:85761600-85763800	Enhancers	Hela-S3	cervix
32	chr12:85762800-85763000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:85763000-85763200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:85763000-85763600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:85763000-85763600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:85763000-85763600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:85763000-85763600	Enhancers	Fetal Lung	lung
38	chr12:85763000-85763800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:85763200-85763400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:85763200-85763600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:85763200-85763600	Enhancers	Fetal Kidney	kidney
42	chr12:85763400-85763600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:85763600-85764200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:85763600-85767800	Weak transcription	Fetal Kidney	kidney
45	chr12:85767800-85768000	Enhancers	Fetal Kidney	kidney
46	chr12:85768000-85768800	Weak transcription	Fetal Kidney	kidney
47	chr12:85768400-85769600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:85768800-85769000	Enhancers	Fetal Kidney	kidney
49	chr12:85769800-85770200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:85783400-85783600	Enhancers	Fetal Lung	lung

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