Variant report

Variant	nsv794
Chromosome Location	chr12:85355048-85389420
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:85386878..85388846-chr12:85389082..85390611,2	MCF-7	breast:
2	chr12:85386878..85388846-chr12:85389082..85390611,2	MCF-7	breast:
3	chr12:85360927..85363547-chr12:85363750..85365430,2	K562	blood:
4	chr12:85360927..85363547-chr12:85363750..85365430,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRIQ1-1	chr12:85382721-85382816	XLOC_009819
2	lnc-LRRIQ1-1	chr12:85386349-85386508	XLOC_009819
3	lnc-LRRIQ1-1	chr12:85382721-85382817	XLOC_009819

No data

Extended variants
information (count: 1215 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1215 , 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	rs77441032	chr12:85355069-85355070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529560477	chr12:85355101-85355102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114706860	chr12:85355192-85355193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562950198	chr12:85355278-85355279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373606989	chr12:85355328-85355329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12296122	chr12:85355383-85355384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138958945	chr12:85355399-85355400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551084299	chr12:85355456-85355457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146700700	chr12:85355496-85355497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547665132	chr12:85355605-85355606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144701986	chr12:85355653-85355654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376447865	chr12:85355654-85355655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148507822	chr12:85355656-85355657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184937238	chr12:85355667-85355668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141894987	chr12:85355774-85355775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543124941	chr12:85355784-85355785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556380249	chr12:85355791-85355792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111252649	chr12:85355851-85355852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538806973	chr12:85355870-85355871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150631251	chr12:85355888-85355889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573355535	chr12:85355891-85355892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554424395	chr12:85355938-85355939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540672474	chr12:85355952-85355953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555470268	chr12:85355994-85355995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140650019	chr12:85356016-85356017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573941690	chr12:85356044-85356045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544582275	chr12:85356045-85356046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573267291	chr12:85356136-85356137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371883667	chr12:85356154-85356155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368843618	chr12:85356210-85356211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370985286	chr12:85356218-85356219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10161479	chr12:85356224-85356225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs535538933	chr12:85356243-85356244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545183227	chr12:85356308-85356309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188997511	chr12:85356369-85356370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527390202	chr12:85356416-85356417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367838064	chr12:85356417-85356418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549000144	chr12:85356458-85356459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11116667	chr12:85356469-85356470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531290560	chr12:85356483-85356484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549827906	chr12:85356484-85356485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571531066	chr12:85356513-85356514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7137131	chr12:85356524-85356525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs115854731	chr12:85356533-85356534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140139414	chr12:85356556-85356557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143825977	chr12:85356568-85356569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555787960	chr12:85356570-85356571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185526371	chr12:85356583-85356584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146841549	chr12:85356603-85356604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565394197	chr12:85356611-85356612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
abnormal development	18461090	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
Cancer	20164920	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85341800-85363800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:85355200-85355800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:85355200-85356000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:85355400-85355800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:85357600-85358400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:85357800-85358600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:85358000-85358400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:85358200-85358400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:85362400-85362600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:85362400-85363600	Enhancers	NHEK	skin
11	chr12:85362600-85363400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:85363200-85363800	Enhancers	HMEC	breast
13	chr12:85363400-85364200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:85363800-85364000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:85365000-85365200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:85365200-85368600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:85365200-85368600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:85365200-85368800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:85365200-85369600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:85365400-85365600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:85365800-85367200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:85366200-85366600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:85366400-85366600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:85366400-85369000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:85366600-85367800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:85367000-85368400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:85368000-85368400	Enhancers	NHDF-Ad	bronchial
28	chr12:85368000-85369600	Enhancers	Hela-S3	cervix
29	chr12:85368200-85368400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:85368200-85368600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:85368200-85368600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:85368600-85368800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:85368600-85372400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:85368600-85372600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:85369000-85370600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:85369200-85369400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:85369400-85370000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:85369600-85370000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:85369600-85384400	Weak transcription	Hela-S3	cervix
40	chr12:85369800-85376800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:85370000-85370200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:85370200-85371400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:85370600-85371800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:85371400-85373000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:85372400-85373400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:85372600-85373200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:85372800-85373000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:85373000-85373200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:85373000-85376800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:85373200-85376800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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