Variant report

Variant	esv3449559
Chromosome Location	chr12:122362248-122362692
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	chr12:122277581..122279588-chr12:122359904..122362557,2	K562	blood:
2	chr12:122232615..122235866-chr12:122360663..122363500,3	K562	blood:

Variant related genes	Relation type
ENSG00000212694	chromatin interactions
ENSG00000272849	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140792263	chr12:122362291-122362292	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs10770187	chr12:122362316-122362317	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs374934212	chr12:122362333-122362334	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs71082912	chr12:122362346-122362347	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs571251311	chr12:122362353-122362354	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs550552942	chr12:122362359-122362360	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs569282077	chr12:122362361-122362362	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533588714	chr12:122362401-122362402	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555276876	chr12:122362402-122362403	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs2688409	chr12:122362424-122362425	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs10743187	chr12:122362432-122362433	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11043244	chr12:122362442-122362443	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577818898	chr12:122362450-122362451	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs545163310	chr12:122362461-122362462	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553819372	chr12:122362483-122362484	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs527408748	chr12:122362488-122362489	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575232491	chr12:122362490-122362491	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542525362	chr12:122362519-122362520	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs561260126	chr12:122362572-122362573	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375803750	chr12:122362579-122362580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528227412	chr12:122362584-122362585	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs540047355	chr12:122362587-122362588	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs138877158	chr12:122362599-122362600	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs532468115	chr12:122362602-122362603	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs372219104	chr12:122362616-122362617	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs376680117	chr12:122362620-122362621	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs547160038	chr12:122362626-122362627	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs530121957	chr12:122362627-122362628	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs144724065	chr12:122362671-122362672	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs567155991	chr12:122362673-122362674	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs148518123	chr12:122362683-122362684	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs552792935	chr12:122362690-122362691	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122354200-122363000	Weak transcription	Small Intestine	intestine
2	chr12:122355600-122364800	Weak transcription	K562	blood
3	chr12:122356000-122362600	Weak transcription	Hela-S3	cervix
4	chr12:122356400-122362600	Weak transcription	Ovary	ovary
5	chr12:122356400-122362600	Weak transcription	HMEC	breast
6	chr12:122356400-122363000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:122356600-122362600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:122356600-122362800	Weak transcription	HSMMtube	muscle
9	chr12:122356800-122362600	Weak transcription	Fetal Heart	heart
10	chr12:122356800-122362800	Weak transcription	Left Ventricle	heart
11	chr12:122356800-122362800	Weak transcription	HSMM	muscle
12	chr12:122356800-122363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:122357000-122362600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:122357000-122362600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:122357000-122362600	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:122357000-122362600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:122357000-122362600	Weak transcription	Fetal Brain Male	brain
18	chr12:122357000-122362600	Weak transcription	Fetal Brain Female	brain
19	chr12:122357000-122362600	Weak transcription	Fetal Intestine Large	intestine
20	chr12:122357000-122362600	Weak transcription	Fetal Intestine Small	intestine
21	chr12:122357000-122362600	Weak transcription	Fetal Stomach	stomach
22	chr12:122357000-122362600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:122357000-122362600	Weak transcription	Right Ventricle	heart
24	chr12:122357000-122362600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:122357000-122362600	Weak transcription	Spleen	Spleen
26	chr12:122357000-122362600	Weak transcription	NH-A	brain
27	chr12:122357000-122362800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:122357000-122362800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:122357000-122362800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:122357000-122362800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:122357000-122362800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:122357000-122362800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:122357000-122362800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:122357000-122362800	Weak transcription	Fetal Thymus	thymus
35	chr12:122357000-122363000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:122357000-122363000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:122357000-122363000	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:122357000-122363000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:122357000-122370200	Weak transcription	Brain Anterior Caudate	brain
40	chr12:122357000-122370600	Weak transcription	Aorta	Aorta
41	chr12:122357000-122380400	Weak transcription	Gastric	stomach
42	chr12:122357000-122383600	Weak transcription	Primary T cells from cord blood	blood
43	chr12:122357400-122362600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:122357400-122362800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:122357400-122362800	Weak transcription	Brain Angular Gyrus	brain
46	chr12:122357600-122362600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:122357600-122362600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:122357600-122362600	Weak transcription	Fetal Kidney	kidney
49	chr12:122357600-122362800	Weak transcription	NHLF	lung
50	chr12:122359600-122364600	Weak transcription	Monocytes-CD14+_RO01746	blood

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