Variant report

Variant	esv3444261
Chromosome Location	chr12:120950557-120951111
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	chr12:120934503..120936476-chr12:120949215..120951696,2	K562	blood:
2	chr12:120933882..120936476-chr12:120948065..120950715,2	K562	blood:

Variant related genes	Relation type
ENSG00000088986	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535318481	chr12:120950583-120950584	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs555382558	chr12:120950588-120950589	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532961158	chr12:120950591-120950592	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575385559	chr12:120950613-120950614	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112115497	chr12:120950658-120950659	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564194915	chr12:120950665-120950666	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113108232	chr12:120950667-120950668	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540351317	chr12:120950686-120950687	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148140913	chr12:120950707-120950708	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12813930	chr12:120950713-120950714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs147295271	chr12:120950733-120950734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562294413	chr12:120950751-120950752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536277762	chr12:120950763-120950764	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531113512	chr12:120950785-120950786	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140847054	chr12:120950789-120950790	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186063538	chr12:120950809-120950810	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143109233	chr12:120950831-120950832	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546692588	chr12:120950883-120950884	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566488046	chr12:120950896-120950897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535519847	chr12:120950905-120950906	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555632028	chr12:120950941-120950942	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190373848	chr12:120950943-120950944	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181175626	chr12:120951006-120951007	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557957097	chr12:120951024-120951025	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369428933	chr12:120951028-120951029	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373100704	chr12:120951064-120951065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145060344	chr12:120951078-120951079	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527749338	chr12:120951101-120951102	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
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120935200-120951400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:120935200-120966200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120935600-120966200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:120935800-120951800	Weak transcription	Esophagus	oesophagus
5	chr12:120935800-120953400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:120936000-120955200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:120936000-120964200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:120936400-120963800	Weak transcription	Hela-S3	cervix
9	chr12:120936400-120966000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:120936400-120966200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:120936600-120954800	Strong transcription	Adipose Nuclei	Adipose
12	chr12:120936800-120956600	Weak transcription	Stomach Mucosa	stomach
13	chr12:120937000-120951800	Weak transcription	NH-A	brain
14	chr12:120937200-120966000	Weak transcription	Psoas Muscle	Psoas
15	chr12:120937600-120963600	Strong transcription	Fetal Intestine Small	intestine
16	chr12:120938000-120953200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:120939800-120951800	Weak transcription	Fetal Brain Male	brain
18	chr12:120940600-120957400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:120941000-120950600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:120941800-120964000	Weak transcription	HUVEC	blood vessel
21	chr12:120942000-120951800	Weak transcription	NHLF	lung
22	chr12:120942000-120962600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:120942400-120959800	Weak transcription	Fetal Kidney	kidney
24	chr12:120942800-120966200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:120943000-120954800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:120943000-120958400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:120943000-120963800	Weak transcription	K562	blood
28	chr12:120943000-120966200	Weak transcription	Fetal Heart	heart
29	chr12:120943200-120951800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:120943200-120953000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:120945600-120955200	Strong transcription	Liver	Liver
32	chr12:120945600-120956200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:120945600-120962000	Strong transcription	Fetal Muscle Leg	muscle
34	chr12:120945800-120950600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:120945800-120951800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:120945800-120954600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:120945800-120954800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:120945800-120955000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:120945800-120955000	Strong transcription	Thymus	Thymus
40	chr12:120945800-120956200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr12:120945800-120963600	Strong transcription	Fetal Stomach	stomach
42	chr12:120946400-120951800	Weak transcription	NHEK	skin
43	chr12:120946600-120952400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:120947000-120953800	Weak transcription	HMEC	breast
45	chr12:120947200-120953200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:120947200-120966000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:120947400-120951600	Weak transcription	Colonic Mucosa	Colon
48	chr12:120947400-120951800	Weak transcription	A549	lung
49	chr12:120947800-120953200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:120948000-120951800	Weak transcription	HepG2	liver

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