Variant report

Variant	esv3436106
Chromosome Location	chr12:83515776-83515989
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	chr12:83500913..83502581-chr12:83513715..83516679,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569833649	chr12:83515784-83515785	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537153167	chr12:83515798-83515799	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371433734	chr12:83515799-83515800	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558640235	chr12:83515807-83515808	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs577009524	chr12:83515820-83515821	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs540704052	chr12:83515822-83515823	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs193227071	chr12:83515828-83515829	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573880909	chr12:83515829-83515830	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183858533	chr12:83515843-83515844	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs542473911	chr12:83515847-83515848	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs10862588	chr12:83515848-83515849	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs61929902	chr12:83515853-83515854	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs545981938	chr12:83515865-83515866	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564278739	chr12:83515877-83515878	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528572426	chr12:83515880-83515881	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546708210	chr12:83515882-83515883	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs74106069	chr12:83515897-83515898	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529962970	chr12:83515904-83515905	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs7954865	chr12:83515925-83515926	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115614529	chr12:83515930-83515931	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545398435	chr12:83515949-83515950	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs375166888	chr12:83515957-83515958	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs55707483	chr12:83515968-83515969	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs367892453	chr12:83515984-83515985	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83492600-83515800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83503600-83515800	Weak transcription	Fetal Brain Male	brain
3	chr12:83515000-83515800	Enhancers	Brain Angular Gyrus	brain
4	chr12:83515000-83515800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr12:83515200-83515800	Enhancers	Brain Hippocampus Middle	brain
6	chr12:83515200-83515800	Enhancers	Brain Substantia Nigra	brain
7	chr12:83515200-83516000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:83515200-83516200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:83515400-83515800	Enhancers	Brain Anterior Caudate	brain
10	chr12:83515400-83516200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:83515400-83516600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:83515400-83516600	Enhancers	K562	blood
13	chr12:83515600-83516200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:83515600-83516400	Genic enhancers	Fetal Stomach	stomach
15	chr12:83515600-83516800	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr12:83515800-83516000	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr12:83515800-83516200	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr12:83515800-83516200	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr12:83515800-83516400	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr12:83515800-83516400	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr12:83515800-83516400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr12:83515800-83516400	Enhancers	Fetal Brain Male	brain
23	chr12:83515800-83516400	Active TSS	HSMMtube	muscle
24	chr12:83515800-83516600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:83515800-83516600	Enhancers	Fetal Lung	lung
26	chr12:83515800-83516600	Enhancers	Fetal Muscle Leg	muscle
27	chr12:83515800-83517000	Enhancers	Cortex derived primary cultured neurospheres	brain

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