Variant report

Variant	esv2025559
Chromosome Location	chr12:42481619-42491335
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42482985..42484786-chr12:42501108..42503617,2	MCF-7	breast:
2	chr12:42473066..42475220-chr12:42482605..42484147,2	MCF-7	breast:
3	chr12:42480575..42482841-chr12:42486145..42488403,3	K562	blood:
4	chr12:42480575..42482841-chr12:42486145..42488403,3	K562	blood:
5	chr12:42480575..42482340-chr12:42486145..42488403,2	K562	blood:
6	chr12:42483747..42485881-chr12:42486053..42487820,2	MCF-7	breast:
7	chr12:42473894..42475644-chr12:42484252..42485777,2	K562	blood:
8	chr12:42483747..42485881-chr12:42486053..42487820,2	MCF-7	breast:
9	chr12:42480575..42482340-chr12:42486145..42488403,2	K562	blood:
10	chr12:42488035..42489890-chr12:42495880..42498709,2	K562	blood:
11	chr12:42477798..42480028-chr12:42482266..42483853,2	K562	blood:
12	chr12:42474170..42476425-chr12:42489656..42492488,2	K562	blood:
13	chr12:42473894..42476610-chr12:42483539..42485752,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222884	chromatin interactions

Extended variants
information (count: 364 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78709072	chr12:42481627-42481628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566464254	chr12:42481631-42481632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375092173	chr12:42481656-42481657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202229719	chr12:42481663-42481664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200973030	chr12:42481670-42481671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202200134	chr12:42481671-42481672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369121568	chr12:42481675-42481676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200923104	chr12:42481686-42481687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200436402	chr12:42481688-42481689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558061830	chr12:42481724-42481725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7972986	chr12:42481732-42481733	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs555254165	chr12:42481733-42481734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371166830	chr12:42481759-42481760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190668767	chr12:42481768-42481769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561828822	chr12:42481799-42481800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573606046	chr12:42481802-42481803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs824722	chr12:42481803-42481804	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140041049	chr12:42481806-42481807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138027653	chr12:42481843-42481844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111515898	chr12:42481879-42481880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551681576	chr12:42481885-42481886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190720828	chr12:42481901-42481902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182960742	chr12:42481978-42481979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188766665	chr12:42481989-42481990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74989435	chr12:42482001-42482002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538427508	chr12:42482024-42482025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149529408	chr12:42482032-42482033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144160576	chr12:42482094-42482095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539006619	chr12:42482099-42482100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148713211	chr12:42482101-42482102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576214267	chr12:42482190-42482191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141429871	chr12:42482201-42482202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555317196	chr12:42482213-42482214	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573766188	chr12:42482293-42482294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546225201	chr12:42482306-42482307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540756661	chr12:42482312-42482313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75877508	chr12:42482427-42482428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192668908	chr12:42482472-42482473	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117596947	chr12:42482668-42482669	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543159550	chr12:42482674-42482675	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372741381	chr12:42482684-42482685	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376296627	chr12:42482685-42482686	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375134704	chr12:42482698-42482699	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573271990	chr12:42482757-42482758	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs564012127	chr12:42482802-42482803	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540757347	chr12:42482832-42482833	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376447399	chr12:42482875-42482876	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7964383	chr12:42482978-42482979	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs570822432	chr12:42482999-42483000	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372059914	chr12:42483077-42483078	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Neurodevelopmental disorder	22521361	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
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42464600-42484000	Weak transcription	HSMM	muscle
2	chr12:42468400-42490200	Weak transcription	Spleen	Spleen
3	chr12:42469400-42491800	Weak transcription	Ovary	ovary
4	chr12:42470400-42484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:42470600-42484000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:42470600-42491400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:42470800-42485600	Weak transcription	Aorta	Aorta
8	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:42471200-42483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:42471400-42485600	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:42471800-42483400	Weak transcription	Fetal Stomach	stomach
12	chr12:42471800-42486600	Weak transcription	Fetal Intestine Small	intestine
13	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
14	chr12:42472200-42487800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:42472800-42489000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:42473600-42483600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:42473600-42484000	Weak transcription	HUVEC	blood vessel
18	chr12:42473600-42484200	Weak transcription	Primary T cells from cord blood	blood
19	chr12:42473800-42484000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:42474000-42484000	Weak transcription	NH-A	brain
21	chr12:42474000-42484200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:42474000-42496000	Weak transcription	Fetal Intestine Large	intestine
23	chr12:42474200-42484000	Weak transcription	Osteobl	bone
24	chr12:42474200-42486000	Weak transcription	GM12878-XiMat	blood
25	chr12:42474200-42487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:42474200-42490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:42474600-42482600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
30	chr12:42474800-42487600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:42474800-42487600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:42474800-42491800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:42475000-42484200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:42475000-42491800	Weak transcription	Brain Substantia Nigra	brain
35	chr12:42475400-42485600	Weak transcription	Left Ventricle	heart
36	chr12:42476000-42485600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:42476000-42524400	Weak transcription	Gastric	stomach
38	chr12:42476200-42487000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
40	chr12:42476400-42482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:42476400-42487400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:42476400-42487600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:42476400-42489800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
45	chr12:42476800-42483400	Weak transcription	Fetal Kidney	kidney
46	chr12:42476800-42484200	Weak transcription	NHEK	skin
47	chr12:42477000-42484000	Weak transcription	NHDF-Ad	bronchial
48	chr12:42477400-42482200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:42477600-42482400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr12:42477600-42490400	Weak transcription	Thymus	Thymus

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