Variant report

Variant	esv3417952
Chromosome Location	chr12:104373694-104376675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:104376611-104376721	MCF-7	breast:	n/a	n/a
2	POLR2A	chr12:104373967-104374211	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:104376586-104376719	K562	blood:	n/a	n/a
4	POLR2A	chr12:104376588-104376630	K562	blood:	n/a	n/a
5	POLR2A	chr12:104373791-104373829	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:104376458-104376494	MCF-7	breast:	n/a	n/a
7	POLR2A	chr12:104374327-104374408	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:104376363-104376522	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:104370024..104373447-chr12:104374664..104377599,4	K562	blood:
2	chr12:104350535..104352319-chr12:104374868..104377372,2	MCF-7	breast:
3	chr12:104374585..104376211-chr12:104383333..104385407,2	K562	blood:
4	chr12:104375830..104377503-chr12:104387925..104389874,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSP90B1-1	chr12:104373609-104374251	NONHSAT030402
2	lnc-HSP90B1-2	chr12:104375473-104376103	l_718_chr12:104372013-104376103

No data

Variant related genes	Relation type
ENSG00000215976	TF binding region
TDG	TF binding region
ENSG00000204954	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150152878	chr12:104373710-104373711	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs145088797	chr12:104373714-104373715	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs151041931	chr12:104373728-104373729	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs552491179	chr12:104373762-104373763	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs144948575	chr12:104373814-104373815	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs149084574	chr12:104373818-104373819	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs71466288	chr12:104373844-104373845	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs530492599	chr12:104373884-104373885	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs71466289	chr12:104373889-104373890	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs375400235	chr12:104373894-104373895	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs377372681	chr12:104373898-104373899	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs3829301	chr12:104373955-104373956	Strong transcription Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34657183	chr12:104373959-104373960	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs531839375	chr12:104373983-104373984	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs548745748	chr12:104374037-104374038	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs372272271	chr12:104374047-104374048	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs568524251	chr12:104374067-104374068	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs534320387	chr12:104374105-104374106	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs554258902	chr12:104374124-104374125	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs138632818	chr12:104374158-104374159	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs113298360	chr12:104374160-104374161	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs558922437	chr12:104374164-104374165	Strong transcription Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs4135095	chr12:104374276-104374277	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181924888	chr12:104374278-104374279	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186148992	chr12:104374305-104374306	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368473227	chr12:104374318-104374319	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540330509	chr12:104374367-104374368	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs76229841	chr12:104374415-104374416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1866074	chr12:104374442-104374443	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs545371836	chr12:104374444-104374445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2629800	chr12:104374462-104374463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115683616	chr12:104374495-104374496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2629801	chr12:104374510-104374511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2629802	chr12:104374517-104374518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180703433	chr12:104374539-104374540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548570984	chr12:104374543-104374544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568641049	chr12:104374587-104374588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4135096	chr12:104374608-104374609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2629803	chr12:104374610-104374611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114046022	chr12:104374614-104374615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547960092	chr12:104374615-104374616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4135097	chr12:104374632-104374633	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs370345591	chr12:104374638-104374639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149333312	chr12:104374662-104374663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76647728	chr12:104374685-104374686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371052913	chr12:104374693-104374694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61937628	chr12:104374742-104374743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144628391	chr12:104374805-104374806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558523296	chr12:104374832-104374833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4135098	chr12:104374833-104374834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Acute lymphoblastic leukemia	21339820	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

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104360800-104378600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:104361200-104379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:104362000-104373800	Weak transcription	Psoas Muscle	Psoas
6	chr12:104362000-104382600	Weak transcription	Esophagus	oesophagus
7	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
9	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:104362400-104378000	Weak transcription	Small Intestine	intestine
11	chr12:104363800-104382400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:104364000-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:104364600-104383800	Strong transcription	Dnd41	blood
14	chr12:104366200-104376000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:104366600-104383600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:104366800-104380400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:104366800-104381600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:104367000-104377000	Strong transcription	Fetal Stomach	stomach
19	chr12:104367600-104381000	Strong transcription	GM12878-XiMat	blood
20	chr12:104368200-104373800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:104368200-104380600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:104368400-104373800	Weak transcription	NHEK	skin
23	chr12:104368800-104381000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr12:104368800-104381600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr12:104369200-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:104369200-104381000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr12:104369200-104381000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr12:104369200-104383800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:104369400-104376400	Weak transcription	Fetal Heart	heart
30	chr12:104369400-104380800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:104369400-104381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:104369400-104381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:104369600-104381600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:104369800-104378000	Strong transcription	Primary T cells from cord blood	blood
35	chr12:104369800-104383600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:104370000-104379600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:104370000-104381600	Strong transcription	Fetal Thymus	thymus
38	chr12:104370200-104376200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:104370200-104381000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:104370200-104381000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:104370200-104381000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:104370200-104384600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:104370400-104379800	Strong transcription	K562	blood
44	chr12:104370400-104380400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:104370400-104380800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:104370400-104381000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:104370400-104381000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:104370400-104381000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:104370400-104381000	Strong transcription	HSMM	muscle
50	chr12:104370400-104381000	Strong transcription	Monocytes-CD14+_RO01746	blood

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