Variant report

Variant	esv3361042
Chromosome Location	chr12:39809685-39811733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:39793372..39796238-chr12:39806830..39809770,2	K562	blood:
2	chr12:39811288..39814144-chr12:39836391..39839254,3	K562	blood:
3	chr12:39807954..39810429-chr12:39835327..39837986,3	MCF-7	breast:
4	chr12:39810583..39812399-chr12:39829006..39830743,2	K562	blood:
5	chr12:39804679..39806522-chr12:39811533..39813150,2	K562	blood:
6	chr12:39810025..39813517-chr12:39819590..39821395,3	MCF-7	breast:
7	chr12:39811412..39814654-chr12:39833634..39837106,4	K562	blood:
8	chr12:39810770..39813104-chr12:39835365..39837059,2	MCF-7	breast:
9	chr12:39804413..39806857-chr12:39807005..39809707,2	K562	blood:
10	chr12:39806881..39808791-chr12:39811167..39813335,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252974	chromatin interactions
ENSG00000139116	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17558706	chr12:39809750-39809751	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78039352	chr12:39809766-39809767	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs114783501	chr12:39809817-39809818	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372711481	chr12:39809819-39809820	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs559330134	chr12:39809934-39809935	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs548259613	chr12:39809943-39809944	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566661387	chr12:39809964-39809965	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs535760987	chr12:39810022-39810023	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs139983654	chr12:39810025-39810026	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs552355717	chr12:39810054-39810055	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527532071	chr12:39810161-39810162	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201190596	chr12:39810172-39810173	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs538170704	chr12:39810207-39810208	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs78495391	chr12:39810209-39810210	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370404756	chr12:39810288-39810289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575109743	chr12:39810327-39810328	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs117819007	chr12:39810392-39810393	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs367999803	chr12:39810404-39810405	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569080830	chr12:39810405-39810406	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533794539	chr12:39810406-39810407	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201646231	chr12:39810418-39810419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs531439906	chr12:39810431-39810432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112856702	chr12:39810435-39810436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140360069	chr12:39810451-39810452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7296345	chr12:39810457-39810458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11503652	chr12:39810461-39810462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150350447	chr12:39810463-39810464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199704832	chr12:39810473-39810474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200230513	chr12:39810475-39810476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201028526	chr12:39810476-39810477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199799086	chr12:39810478-39810479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564945041	chr12:39810480-39810481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200891500	chr12:39810485-39810486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10584408	chr12:39810489-39810490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34970852	chr12:39810490-39810491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536942035	chr12:39810491-39810492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554998153	chr12:39810493-39810494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141523856	chr12:39810497-39810498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546761290	chr12:39810505-39810506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11504025	chr12:39810511-39810512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201587259	chr12:39810512-39810513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35740569	chr12:39810517-39810518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190383021	chr12:39810518-39810519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532398543	chr12:39810520-39810521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562834035	chr12:39810522-39810523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397842413	chr12:39810524-39810525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372980016	chr12:39810540-39810541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7296477	chr12:39810541-39810542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558744138	chr12:39810558-39810559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181656376	chr12:39810561-39810562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39785000-39829200	Weak transcription	K562	blood
2	chr12:39790000-39816200	Weak transcription	Right Ventricle	heart
3	chr12:39794200-39824800	Weak transcription	Right Atrium	heart
4	chr12:39795400-39816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:39797600-39812000	Weak transcription	HMEC	breast
6	chr12:39800800-39812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:39800800-39814800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:39801000-39815800	Weak transcription	Psoas Muscle	Psoas
9	chr12:39801600-39811000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:39802000-39811800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:39802400-39816000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:39804000-39811800	Weak transcription	Adipose Nuclei	Adipose
13	chr12:39805200-39811800	Weak transcription	HepG2	liver
14	chr12:39806400-39813000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:39806600-39811800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:39806600-39834200	Weak transcription	Hela-S3	cervix
17	chr12:39807200-39811400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:39807800-39810200	Enhancers	Fetal Heart	heart
19	chr12:39808400-39809800	Enhancers	GM12878-XiMat	blood
20	chr12:39808600-39811800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:39808600-39812400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:39808600-39813000	Weak transcription	Brain Germinal Matrix	brain
23	chr12:39808600-39814000	Weak transcription	Brain Angular Gyrus	brain
24	chr12:39808600-39814800	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:39808600-39821600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:39808600-39830800	Weak transcription	Fetal Brain Female	brain
27	chr12:39809400-39809800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
28	chr12:39809400-39809800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:39809400-39810000	Enhancers	A549	lung
30	chr12:39809400-39815200	Weak transcription	Left Ventricle	heart
31	chr12:39809600-39809800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:39809600-39809800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr12:39809600-39809800	Enhancers	Liver	Liver
34	chr12:39809600-39809800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr12:39809600-39809800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr12:39809600-39810000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:39809600-39810000	Enhancers	Brain Anterior Caudate	brain
38	chr12:39809600-39810000	Enhancers	Colon Smooth Muscle	Colon
39	chr12:39809600-39810200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:39809600-39813600	Weak transcription	Placenta	Placenta
41	chr12:39809600-39813800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr12:39809800-39810000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr12:39809800-39813600	Weak transcription	GM12878-XiMat	blood
44	chr12:39810000-39811000	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:39810000-39813600	Weak transcription	A549	lung
46	chr12:39810000-39821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:39810200-39810400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:39810200-39812400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:39810200-39816000	Weak transcription	Fetal Heart	heart
50	chr12:39811000-39811200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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