Variant report

Variant	esv3492186
Chromosome Location	chr12:104377098-104378590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104370024..104373447-chr12:104374664..104377599,4	K562	blood:
2	chr12:104364267..104367088-chr12:104376743..104378838,2	MCF-7	breast:
3	chr12:104375830..104377503-chr12:104387925..104389874,3	K562	blood:
4	chr12:104350535..104352319-chr12:104374868..104377372,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204954	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567735656	chr12:104377108-104377109	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376625393	chr12:104377143-104377144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201703206	chr12:104377182-104377183	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535142076	chr12:104377210-104377211	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144714925	chr12:104377216-104377217	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376275816	chr12:104377302-104377303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574130867	chr12:104377306-104377307	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35977913	chr12:104377315-104377316	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545758982	chr12:104377382-104377383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73390435	chr12:104377430-104377431	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559410623	chr12:104377486-104377487	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528512213	chr12:104377527-104377528	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544987955	chr12:104377536-104377537	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553377319	chr12:104377537-104377538	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564902703	chr12:104377553-104377554	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185299716	chr12:104377559-104377560	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4135115	chr12:104377607-104377608	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569762626	chr12:104377651-104377652	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141080053	chr12:104377688-104377689	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373335921	chr12:104377695-104377696	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76861258	chr12:104377799-104377800	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2629747	chr12:104377828-104377829	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189029530	chr12:104377859-104377860	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145069424	chr12:104377879-104377880	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4135116	chr12:104377918-104377919	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370528350	chr12:104377924-104377925	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571231586	chr12:104377937-104377938	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142114770	chr12:104377939-104377940	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181377876	chr12:104377941-104377942	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574191781	chr12:104377967-104377968	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143126340	chr12:104378063-104378064	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79174508	chr12:104378078-104378079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553086441	chr12:104378094-104378095	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4135117	chr12:104378097-104378098	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545071083	chr12:104378133-104378134	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564940471	chr12:104378138-104378139	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184740146	chr12:104378147-104378148	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543394981	chr12:104378168-104378169	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563598248	chr12:104378234-104378235	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4135118	chr12:104378246-104378247	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549182663	chr12:104378250-104378251	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559552309	chr12:104378263-104378264	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528214156	chr12:104378287-104378288	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551446902	chr12:104378379-104378380	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571164615	chr12:104378416-104378417	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537039739	chr12:104378461-104378462	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189289327	chr12:104378467-104378468	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567925782	chr12:104378469-104378470	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181024127	chr12:104378482-104378483	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4135119	chr12:104378529-104378530	Strong transcription Weak 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:147 , 50 per page) page: 1 2 3

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	chr12:104362000-104382600	Weak transcription	Esophagus	oesophagus
6	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
8	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:104362400-104378000	Weak transcription	Small Intestine	intestine
10	chr12:104363800-104382400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:104364000-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:104364600-104383800	Strong transcription	Dnd41	blood
13	chr12:104366600-104383600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:104366800-104380400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:104366800-104381600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:104367600-104381000	Strong transcription	GM12878-XiMat	blood
17	chr12:104368200-104380600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:104368800-104381000	Strong transcription	Primary hematopoietic stem cells	blood
19	chr12:104368800-104381600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr12:104369200-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:104369200-104381000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr12:104369200-104381000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr12:104369200-104383800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:104369400-104380800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:104369400-104381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:104369400-104381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:104369600-104381600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:104369800-104378000	Strong transcription	Primary T cells from cord blood	blood
29	chr12:104369800-104383600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:104370000-104379600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:104370000-104381600	Strong transcription	Fetal Thymus	thymus
32	chr12:104370200-104381000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:104370200-104381000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:104370200-104381000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:104370200-104384600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:104370400-104379800	Strong transcription	K562	blood
37	chr12:104370400-104380400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:104370400-104380800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:104370400-104381000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:104370400-104381000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:104370400-104381000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:104370400-104381000	Strong transcription	HSMM	muscle
43	chr12:104370400-104381000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr12:104370400-104383600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:104370400-104385000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:104370400-104385600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:104370600-104380000	Strong transcription	NH-A	brain
48	chr12:104370600-104380400	Strong transcription	Osteobl	bone
49	chr12:104370600-104380800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:104370600-104380800	Strong transcription	HSMMtube	muscle

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