Variant report

Variant	nsv1045689
Chromosome Location	chr12:105836970-105879110
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:20)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105874327..105876569-chr12:105894873..105897769,2	MCF-7	breast:
2	chr12:105842078..105844568-chr12:105853685..105856268,2	K562	blood:
3	chr12:105844704..105846752-chr12:105847595..105849789,2	MCF-7	breast:
4	chr12:105848787..105849764-chr12:106529532..106530649,7	MCF-7	breast:
5	chr12:2986046..2986877-chr12:105837647..105838612,2	Hela-S3	cervix:
6	chr12:105861881..105863943-chr12:106421999..106424753,2	K562	blood:
7	chr12:105855241..105857321-chr12:105863634..105866501,2	MCF-7	breast:
8	chr12:105848600..105850888-chr12:106533962..106536336,2	MCF-7	breast:
9	chr12:105844704..105846752-chr12:105847595..105849789,2	MCF-7	breast:
10	chr12:105855241..105857321-chr12:105863634..105866501,2	MCF-7	breast:
11	chr12:105842078..105844568-chr12:105853685..105856268,2	K562	blood:
12	chr12:105837457..105842094-chr12:106531449..106535531,7	MCF-7	breast:
13	chr12:105864464..105865998-chr12:105866420..105868253,2	K562	blood:
14	chr12:105849042..105849777-chr12:106599269..106599897,2	MCF-7	breast:
15	chr12:105828121..105830323-chr12:105840483..105843447,2	MCF-7	breast:
16	chr12:105866822..105868644-chr12:105870694..105872285,2	K562	blood:
17	chr12:105878812..105881754-chr12:106532109..106533760,2	MCF-7	breast:
18	chr12:105866822..105868644-chr12:105870694..105872285,2	K562	blood:
19	chr12:105837444..105839027-chr12:106252891..106255471,2	MCF-7	breast:
20	chr12:105864464..105865998-chr12:105866420..105868253,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APPL2-4	chr12:105871938-105873405	ucscGeneNc_uc001tma_2
2	lnc-C12orf75-5	chr12:105863639-105863851	NONHSAT030457
3	lnc-APPL2-2	chr12:105837640-105837870	XLOC_010183

No data

Variant related genes	Relation type
ENSG00000111206	chromatin interactions
ENSG00000171792	chromatin interactions
ENSG00000078246	chromatin interactions
ENSG00000074590	chromatin interactions
RREB1	miRNA target sites

Extended variants
information (count: 1522 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1522 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs934415	chr12:105836970-105836971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113093977	chr12:105837010-105837011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572716058	chr12:105837067-105837068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531154750	chr12:105837083-105837084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2888847	chr12:105837098-105837099	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs567366985	chr12:105837132-105837133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544475553	chr12:105837180-105837181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535924050	chr12:105837192-105837193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546581832	chr12:105837244-105837245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149256394	chr12:105837278-105837279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144422163	chr12:105837293-105837294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575507505	chr12:105837308-105837309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372091991	chr12:105837324-105837325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139200893	chr12:105837377-105837378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192820818	chr12:105837388-105837389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142425618	chr12:105837426-105837427	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs545635141	chr12:105837431-105837432	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146003773	chr12:105837465-105837466	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574082671	chr12:105837564-105837565	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183619563	chr12:105837577-105837578	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1358219	chr12:105837658-105837659	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs142154163	chr12:105837682-105837683	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs541638484	chr12:105837690-105837691	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs151234208	chr12:105837730-105837731	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs1358220	chr12:105837746-105837747	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531193113	chr12:105837772-105837773	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs551161076	chr12:105837784-105837785	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs561280047	chr12:105837839-105837840	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs530315329	chr12:105837866-105837867	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs546419953	chr12:105837884-105837885	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs187672266	chr12:105837885-105837886	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs538275719	chr12:105837910-105837911	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs548669636	chr12:105837944-105837945	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs112199423	chr12:105837947-105837948	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs191691942	chr12:105837956-105837957	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs149772916	chr12:105837957-105837958	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs568203644	chr12:105837969-105837970	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs533972045	chr12:105837974-105837975	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs560290320	chr12:105837981-105837982	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs566901121	chr12:105837991-105837992	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs553217949	chr12:105838001-105838002	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs368889296	chr12:105838028-105838029	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs545432367	chr12:105838045-105838046	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs73385015	chr12:105838055-105838056	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs75211849	chr12:105838061-105838062	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs544627530	chr12:105838067-105838068	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs561619026	chr12:105838092-105838093	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs530266893	chr12:105838106-105838107	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs552629655	chr12:105838119-105838120	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs73385018	chr12:105838134-105838135	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105828600-105838200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:105832800-105837800	Weak transcription	Gastric	stomach
3	chr12:105833400-105837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:105836000-105837400	Enhancers	Hela-S3	cervix
5	chr12:105836600-105840600	Enhancers	HSMMtube	muscle
6	chr12:105836800-105840200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:105837000-105837200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:105837000-105837400	Enhancers	A549	lung
9	chr12:105837000-105839600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:105837000-105840400	Enhancers	HSMM	muscle
11	chr12:105837200-105837400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr12:105837200-105837800	Enhancers	Fetal Intestine Large	intestine
13	chr12:105837200-105837800	Enhancers	Fetal Intestine Small	intestine
14	chr12:105837200-105838000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:105837200-105840000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:105837400-105838600	Flanking Active TSS	Hela-S3	cervix
17	chr12:105837400-105838800	Flanking Active TSS	A549	lung
18	chr12:105837400-105839200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:105837400-105840400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:105837400-105840600	Enhancers	HUVEC	blood vessel
21	chr12:105837600-105838200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:105837600-105838200	Enhancers	Placenta	Placenta
23	chr12:105837600-105840000	Enhancers	Fetal Muscle Leg	muscle
24	chr12:105837600-105840400	Enhancers	NHEK	skin
25	chr12:105837800-105838200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr12:105837800-105838200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:105837800-105838200	Active TSS	Fetal Intestine Large	intestine
28	chr12:105837800-105838200	Enhancers	Fetal Muscle Trunk	muscle
29	chr12:105837800-105838800	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr12:105837800-105839200	Enhancers	NH-A	brain
31	chr12:105837800-105840200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:105837800-105840400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:105838000-105838200	Enhancers	Gastric	stomach
34	chr12:105838000-105838200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
35	chr12:105838000-105838800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:105838000-105838800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:105838000-105840000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:105838000-105840000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr12:105838200-105838400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:105838200-105838400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr12:105838200-105838400	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr12:105838200-105839800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:105838200-105839800	Weak transcription	Placenta	Placenta
44	chr12:105838200-105840000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:105838200-105840000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:105838200-105840000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr12:105838200-105840000	Enhancers	Fetal Heart	heart
48	chr12:105838200-105840200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:105838200-105840400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:105838200-105840400	Enhancers	HMEC	breast

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