Variant report

Variant	esv3323838
Chromosome Location	chr12:9531385-9535583
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9526563..9529363-chr12:9530052..9533405,3	MCF-7	breast:
2	chr12:9483967..9484695-chr12:9530892..9531873,3	MCF-7	breast:
3	chr12:9531253..9531816-chr12:9860516..9861214,2	MCF-7	breast:
4	chr12:9530894..9532008-chr12:9621312..9622244,4	MCF-7	breast:
5	chr12:9532106..9535030-chr12:9800116..9802366,2	MCF-7	breast:
6	chr12:9530855..9531819-chr12:9772155..9773338,3	MCF-7	breast:
7	chr12:9483381..9483965-chr12:9531043..9531743,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PZP-11	chr12:9533948-9534263	NONHSAT026813

No data

Variant related genes	Relation type
ENSG00000256594	chromatin interactions
ENSG00000256442	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202055533	chr12:9531398-9531399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187719191	chr12:9531408-9531409	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190864183	chr12:9531430-9531431	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34813963	chr12:9531465-9531466	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145808713	chr12:9531523-9531524	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113746831	chr12:9531571-9531572	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77629846	chr12:9531572-9531573	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7132303	chr12:9531579-9531580	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536397385	chr12:9531611-9531612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183452233	chr12:9531618-9531619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568503384	chr12:9531621-9531622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140955542	chr12:9531688-9531689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554635796	chr12:9531719-9531720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187779516	chr12:9531735-9531736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191919792	chr12:9531773-9531774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75307587	chr12:9531827-9531828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144634937	chr12:9531852-9531853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs918983	chr12:9531902-9531903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114087094	chr12:9531931-9531932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138532997	chr12:9531949-9531950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141496842	chr12:9531982-9531983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143433522	chr12:9531993-9531994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4548677	chr12:9532011-9532012	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs34151220	chr12:9532015-9532016	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11050600	chr12:9532024-9532025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs34871456	chr12:9532054-9532055	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs35811948	chr12:9532097-9532098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185234541	chr12:9532133-9532134	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs188156963	chr12:9532154-9532155	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs68104378	chr12:9532210-9532211	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs77091782	chr12:9532232-9532233	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs148068864	chr12:9532279-9532280	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs17804911	chr12:9532395-9532396	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs141780992	chr12:9532401-9532402	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs7310088	chr12:9532417-9532418	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs112739023	chr12:9532451-9532452	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs114314014	chr12:9532650-9532651	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs150574106	chr12:9532670-9532671	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs140457189	chr12:9532726-9532727	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs74062825	chr12:9532737-9532738	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11609201	chr12:9532818-9532819	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143119507	chr12:9532829-9532830	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542013494	chr12:9532836-9532837	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs147474159	chr12:9532877-9532878	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs115806163	chr12:9532886-9532887	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs527741594	chr12:9532890-9532891	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs184430263	chr12:9532896-9532897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs7310818	chr12:9532933-9532934	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs73242925	chr12:9532959-9532960	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375038547	chr12:9533009-9533010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD
small cell lung cancer	20016488	CNVD
Incontinentia Pigmenti	22033527	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Cancer	21272361	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9528000-9531400	Weak transcription	HepG2	liver
2	chr12:9528600-9533400	Weak transcription	Gastric	stomach
3	chr12:9530200-9533400	Weak transcription	Fetal Lung	lung
4	chr12:9531200-9531400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:9531400-9531600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:9531400-9531600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:9531400-9532000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:9531400-9532200	Enhancers	HepG2	liver
9	chr12:9531600-9532600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:9531600-9534800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:9531800-9532000	Enhancers	Fetal Muscle Trunk	muscle
12	chr12:9532200-9533400	Weak transcription	HepG2	liver
13	chr12:9532600-9532800	Enhancers	Lung	lung
14	chr12:9532600-9533200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:9532800-9533400	Weak transcription	Lung	lung
16	chr12:9533200-9533600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:9533200-9534200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:9533200-9534600	Enhancers	Adipose Nuclei	Adipose
19	chr12:9533200-9535000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:9533400-9533800	Enhancers	Gastric	stomach
21	chr12:9533400-9534000	Strong transcription	Fetal Lung	lung
22	chr12:9533400-9534200	Enhancers	Lung	lung
23	chr12:9533400-9535000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr12:9533400-9535000	Enhancers	HepG2	liver
25	chr12:9533600-9534200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:9533600-9534400	Enhancers	Spleen	Spleen
27	chr12:9533600-9548800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:9533800-9534800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:9533800-9534800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr12:9533800-9535200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:9534000-9540000	Weak transcription	Fetal Lung	lung
32	chr12:9534200-9534600	Enhancers	Primary hematopoietic stem cells	blood
33	chr12:9534200-9534600	Enhancers	Duodenum Mucosa	Duodenum
34	chr12:9534400-9534800	Enhancers	Primary T cells from cord blood	blood
35	chr12:9534400-9534800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr12:9534400-9540200	Weak transcription	Spleen	Spleen
37	chr12:9534600-9535000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr12:9534600-9539800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:9534600-9540400	Weak transcription	Adipose Nuclei	Adipose
40	chr12:9534800-9539200	Weak transcription	Primary T cells from cord blood	blood
41	chr12:9534800-9539400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:9534800-9540000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:9535000-9539800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:9535200-9539400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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