Variant report

Variant	esv3516057
Chromosome Location	chr12:9179122-9182670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:9180462-9180660	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:9180427-9180434	Gliobla	brain:	n/a	n/a
3	RUNX3	chr12:9180276-9180566	GM12878	blood:	n/a	n/a
4	RUNX3	chr12:9180333-9180577	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9101626..9103314-chr12:9176948..9179841,2	MCF-7	breast:

Variant related genes	Relation type
HNRNPA1P34	TF binding region
ENSG00000003056	chromatin interactions
ENSG00000139187	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182417467	chr12:9179218-9179219	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs377112958	chr12:9179245-9179246	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs1805713	chr12:9179301-9179302	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146245052	chr12:9179326-9179327	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs76189207	chr12:9179412-9179413	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs78233850	chr12:9179414-9179415	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34765531	chr12:9179431-9179432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs148448491	chr12:9179447-9179448	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs142880302	chr12:9179595-9179596	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs79241919	chr12:9179615-9179616	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs79439922	chr12:9179616-9179617	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570436647	chr12:9179653-9179654	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs147612107	chr12:9179678-9179679	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565609268	chr12:9179693-9179694	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs114102405	chr12:9179725-9179726	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369878487	chr12:9179791-9179792	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs3026247	chr12:9179793-9179794	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187106392	chr12:9179843-9179844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57172653	chr12:9179855-9179856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35180986	chr12:9179867-9179868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77266804	chr12:9179869-9179870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528167085	chr12:9179895-9179896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375551885	chr12:9179994-9179995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1805712	chr12:9180215-9180216	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561465377	chr12:9180220-9180221	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs550996392	chr12:9180245-9180246	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs1805669	chr12:9180251-9180252	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs372361666	chr12:9180280-9180281	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs191265803	chr12:9180340-9180341	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs12303154	chr12:9180352-9180353	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556798628	chr12:9180493-9180494	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs1805711	chr12:9180496-9180497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs115941758	chr12:9180555-9180556	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs536032344	chr12:9180685-9180686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1805710	chr12:9180703-9180704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs144666822	chr12:9180710-9180711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368723755	chr12:9180740-9180741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112312374	chr12:9180742-9180743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374670479	chr12:9180745-9180746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142958714	chr12:9180746-9180747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199598931	chr12:9180747-9180748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58552815	chr12:9180748-9180749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184510874	chr12:9180783-9180784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376733252	chr12:9180817-9180818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189493259	chr12:9180850-9180851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193002395	chr12:9180865-9180866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112825737	chr12:9180893-9180894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534220154	chr12:9180896-9180897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185763977	chr12:9180910-9180911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553112242	chr12:9180938-9180939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9165800-9182400	Weak transcription	Adipose Nuclei	Adipose
2	chr12:9174400-9181800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr12:9174800-9185800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:9175200-9185800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:9176600-9182800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:9177000-9180600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:9177600-9180400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:9177600-9180400	Enhancers	Fetal Thymus	thymus
9	chr12:9177600-9181600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:9178200-9179400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:9178400-9180000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:9178400-9180200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:9178400-9181800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:9178400-9185000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:9178600-9180600	Enhancers	Primary T cells from cord blood	blood
17	chr12:9178800-9180000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:9178800-9180400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr12:9178800-9181400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:9178800-9184400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr12:9179000-9179600	Weak transcription	Thymus	Thymus
22	chr12:9179000-9180000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:9179400-9179600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:9179600-9180000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:9179600-9180200	Enhancers	Thymus	Thymus
26	chr12:9180000-9180200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr12:9180000-9180200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:9180000-9180400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:9180000-9180400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:9180000-9180600	Enhancers	Esophagus	oesophagus
31	chr12:9180200-9180400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr12:9180200-9180600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:9180200-9180800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:9180400-9180600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr12:9180400-9181400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:9180400-9181800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:9180400-9181800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:9180400-9183000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:9180400-9183400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:9180600-9181800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr12:9180600-9182600	Weak transcription	Esophagus	oesophagus
42	chr12:9180600-9183200	Weak transcription	Primary T cells from cord blood	blood
43	chr12:9180600-9184200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:9180600-9185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:9181400-9184400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:9181400-9184800	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr12:9181600-9182600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:9181800-9182200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:9181800-9182800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:9181800-9183000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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