Variant report

Variant	esv3449729
Chromosome Location	chr12:42477382-42478413
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	chr12:42477955..42479692-chr12:42628844..42631560,2	K562	blood:
2	chr12:42477798..42480028-chr12:42482266..42483853,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GXYLT1	hsa-miR-124-3p	chr12:42478403-42478396
2	GXYLT1	hsa-miR-124-3p	chr12:42478397-42478414

Variant related genes	Relation type
ENSG00000015153	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77158470	chr12:42477389-42477390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76914487	chr12:42477390-42477391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74421025	chr12:42477397-42477398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74528509	chr12:42477402-42477403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552735792	chr12:42477403-42477404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141768281	chr12:42477404-42477405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77580537	chr12:42477426-42477427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs824720	chr12:42477427-42477428	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527663874	chr12:42477431-42477432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12426612	chr12:42477459-42477460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78525011	chr12:42477465-42477466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571173749	chr12:42477495-42477496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74981842	chr12:42477498-42477499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74804510	chr12:42477499-42477500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78722598	chr12:42477500-42477501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77966826	chr12:42477515-42477516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78442817	chr12:42477521-42477522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147110359	chr12:42477527-42477528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79227243	chr12:42477530-42477531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75256252	chr12:42477543-42477544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80322593	chr12:42477550-42477551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77234580	chr12:42477555-42477556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78834163	chr12:42477557-42477558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17666080	chr12:42477570-42477571	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs76919338	chr12:42477574-42477575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74409221	chr12:42477577-42477578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76374609	chr12:42477579-42477580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78307728	chr12:42477581-42477582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77817688	chr12:42477582-42477583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147753280	chr12:42477594-42477595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200489850	chr12:42477610-42477611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141123917	chr12:42477613-42477614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376187421	chr12:42477643-42477644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79436389	chr12:42477665-42477666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183921771	chr12:42477675-42477676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77997792	chr12:42477678-42477679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554631991	chr12:42477683-42477684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78949569	chr12:42477693-42477694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572775821	chr12:42477701-42477702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114181396	chr12:42477710-42477711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201651315	chr12:42477727-42477728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568664272	chr12:42477737-42477738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76706152	chr12:42477761-42477762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540195331	chr12:42477766-42477767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79803944	chr12:42477779-42477780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553199062	chr12:42477780-42477781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147518333	chr12:42477781-42477782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202204777	chr12:42477799-42477800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559306126	chr12:42477815-42477816	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs199740515	chr12:42477819-42477820	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:90 , 50 per page) page: 1 2

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	chr12:42470400-42479200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:42470400-42484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:42470600-42484000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:42470600-42491400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:42470800-42480000	Weak transcription	A549	lung
9	chr12:42470800-42485600	Weak transcription	Aorta	Aorta
10	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:42471200-42479000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:42471200-42483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:42471400-42485600	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:42471800-42483400	Weak transcription	Fetal Stomach	stomach
15	chr12:42471800-42486600	Weak transcription	Fetal Intestine Small	intestine
16	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
17	chr12:42472200-42487800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:42472800-42489000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:42473400-42477400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:42473400-42477600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:42473400-42480200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:42473600-42479200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:42473600-42481000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:42473600-42483600	Weak transcription	Adipose Nuclei	Adipose
25	chr12:42473600-42484000	Weak transcription	HUVEC	blood vessel
26	chr12:42473600-42484200	Weak transcription	Primary T cells from cord blood	blood
27	chr12:42473800-42484000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:42474000-42479000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:42474000-42479400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:42474000-42484000	Weak transcription	NH-A	brain
31	chr12:42474000-42484200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:42474000-42496000	Weak transcription	Fetal Intestine Large	intestine
33	chr12:42474200-42479600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:42474200-42484000	Weak transcription	Osteobl	bone
35	chr12:42474200-42486000	Weak transcription	GM12878-XiMat	blood
36	chr12:42474200-42487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:42474200-42490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:42474400-42480400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:42474600-42477400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:42474600-42479400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:42474600-42479400	Weak transcription	Dnd41	blood
42	chr12:42474600-42479800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:42474600-42480600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr12:42474600-42482600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
47	chr12:42474800-42487600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:42474800-42487600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr12:42474800-42491800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:42475000-42484200	Weak transcription	Rectal Smooth Muscle	rectum

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