Variant report

Variant	esv3336861
Chromosome Location	chr12:121692540-121693292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121691598..121693749-chr12:121732696..121735280,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110931	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569581250	chr12:121692540-121692541	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536080939	chr12:121692542-121692543	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562823500	chr12:121692582-121692583	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11065508	chr12:121692592-121692593	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534820515	chr12:121692706-121692707	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553269308	chr12:121692760-121692761	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs578015152	chr12:121692791-121692792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73222413	chr12:121692841-121692842	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2668250	chr12:121692868-121692869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543106113	chr12:121692876-121692877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561230788	chr12:121692900-121692901	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143213643	chr12:121692999-121693000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201529670	chr12:121693010-121693011	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs71455196	chr12:121693023-121693024	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557293304	chr12:121693034-121693035	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200801209	chr12:121693036-121693037	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201628352	chr12:121693037-121693038	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370028967	chr12:121693038-121693039	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11065509	chr12:121693039-121693040	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11065510	chr12:121693046-121693047	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs58485522	chr12:121693067-121693068	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs71453546	chr12:121693080-121693081	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs71444533	chr12:121693083-121693084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189083626	chr12:121693090-121693091	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374368605	chr12:121693092-121693093	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377424483	chr12:121693093-121693094	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181474525	chr12:121693095-121693096	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11065511	chr12:121693107-121693108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370060006	chr12:121693116-121693117	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370155598	chr12:121693117-121693118	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71079045	chr12:121693118-121693119	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs56728923	chr12:121693119-121693120	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs71455197	chr12:121693141-121693142	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71079046	chr12:121693146-121693147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs55692571	chr12:121693154-121693155	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138896739	chr12:121693170-121693171	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563057180	chr12:121693173-121693174	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372715871	chr12:121693182-121693183	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377156809	chr12:121693185-121693186	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs151052278	chr12:121693188-121693189	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71919280	chr12:121693195-121693196	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10669483	chr12:121693198-121693199	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189521060	chr12:121693202-121693203	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573736497	chr12:121693203-121693204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532648139	chr12:121693243-121693244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121653200-121698800	Weak transcription	Fetal Heart	heart
2	chr12:121670600-121695000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:121674600-121692800	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:121674600-121704200	Strong transcription	Brain Germinal Matrix	brain
5	chr12:121677400-121695600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:121677400-121717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:121677400-121717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:121679000-121713000	Strong transcription	Fetal Intestine Large	intestine
9	chr12:121679200-121709200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:121679200-121714400	Weak transcription	Right Atrium	heart
11	chr12:121679400-121699000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:121679400-121713800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:121679600-121708800	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:121679600-121709200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr12:121679600-121713000	Strong transcription	Liver	Liver
16	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
17	chr12:121679800-121694600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:121679800-121703200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:121679800-121709000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:121679800-121713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:121679800-121713600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:121680000-121709800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:121680800-121713800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:121681000-121709000	Strong transcription	Adipose Nuclei	Adipose
25	chr12:121681000-121712600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:121681200-121693400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr12:121681200-121693800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:121681200-121706400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:121681200-121708800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:121681200-121708800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:121681200-121708800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:121681200-121713600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:121681200-121717800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:121681400-121708800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:121681600-121694000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:121682200-121695000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:121684600-121696000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:121684800-121693000	Strong transcription	Brain Hippocampus Middle	brain
39	chr12:121684800-121693400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:121684800-121693800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:121684800-121693800	Strong transcription	Left Ventricle	heart
42	chr12:121684800-121694600	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr12:121684800-121694600	Strong transcription	Dnd41	blood
44	chr12:121684800-121694800	Strong transcription	A549	lung
45	chr12:121684800-121695000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:121684800-121699800	Strong transcription	Ovary	ovary
47	chr12:121684800-121704200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:121684800-121711800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:121685000-121692800	Strong transcription	HSMMtube	muscle
50	chr12:121685000-121693000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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