Variant report

Variant	esv3500240
Chromosome Location	chr12:60752085-60759033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr12:60752818-60752868	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:60755679-60755697	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:60755566-60755756	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr12:60752437-60752568	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:60755627..60757547-chr12:60757638..60760144,2	K562	blood:
2	chr12:60712942..60715353-chr12:60755743..60757323,2	MCF-7	breast:
3	chr12:60755627..60757547-chr12:60757638..60760144,2	K562	blood:
4	chr12:60752778..60755096-chr12:60757481..60759676,2	K562	blood:

Variant related genes	Relation type
ENSG00000251822	TF binding region
ENSG00000251822	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140049587	chr12:60752123-60752124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533519365	chr12:60752132-60752133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4430551	chr12:60752173-60752174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4583009	chr12:60752193-60752194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7307028	chr12:60752270-60752271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs567344843	chr12:60752277-60752278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573497428	chr12:60752302-60752303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146290723	chr12:60752303-60752304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576262023	chr12:60752312-60752313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113546505	chr12:60752314-60752315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558539563	chr12:60752320-60752321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7307145	chr12:60752323-60752324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4406857	chr12:60752340-60752341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371196403	chr12:60752355-60752356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562311443	chr12:60752370-60752371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369021643	chr12:60752379-60752380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs63275061	chr12:60752380-60752381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375897756	chr12:60752382-60752383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541048267	chr12:60752388-60752389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554690918	chr12:60752392-60752393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6581317	chr12:60752416-60752417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563420363	chr12:60752467-60752468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543472772	chr12:60752471-60752472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12579739	chr12:60752485-60752486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79699865	chr12:60752503-60752504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532221925	chr12:60752505-60752506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377480481	chr12:60752551-60752552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552235973	chr12:60752632-60752633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148694791	chr12:60752636-60752637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6581318	chr12:60752642-60752643	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs142206240	chr12:60752645-60752646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527309710	chr12:60752646-60752647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11832232	chr12:60752657-60752658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs151203254	chr12:60752658-60752659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139141570	chr12:60752661-60752662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181213188	chr12:60752744-60752745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75776779	chr12:60752748-60752749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145178953	chr12:60752753-60752754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531605765	chr12:60752758-60752759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558841768	chr12:60752762-60752763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536896313	chr12:60752789-60752790	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147589462	chr12:60752823-60752824	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142019994	chr12:60752828-60752829	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73109163	chr12:60752858-60752859	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574447618	chr12:60752864-60752865	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10784049	chr12:60752866-60752867	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs145781789	chr12:60752882-60752883	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553355539	chr12:60752892-60752893	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577399564	chr12:60752893-60752894	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546055988	chr12:60752926-60752927	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60750800-60753000	Enhancers	Fetal Intestine Large	intestine
2	chr12:60756800-60757600	Enhancers	Fetal Heart	heart

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