Variant report

Variant	esv3393622
Chromosome Location	chr12:45709985-45712033
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	chr12:45701919..45704723-chr12:45708246..45711469,3	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562605533	chr12:45710009-45710010	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs569165337	chr12:45710039-45710040	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs530365561	chr12:45710075-45710076	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs144296424	chr12:45710134-45710135	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566749762	chr12:45710146-45710147	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs528336945	chr12:45710174-45710175	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111893758	chr12:45710189-45710190	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190995093	chr12:45710194-45710195	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs182694472	chr12:45710226-45710227	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs7965430	chr12:45710230-45710231	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76259676	chr12:45710289-45710290	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs187639551	chr12:45710302-45710303	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191253001	chr12:45710357-45710358	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs182999685	chr12:45710409-45710410	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs542175186	chr12:45710414-45710415	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs553995568	chr12:45710476-45710477	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs532116452	chr12:45710540-45710541	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs572873036	chr12:45710555-45710556	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs57266792	chr12:45710558-45710559	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs143439683	chr12:45710564-45710565	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs12582025	chr12:45710584-45710585	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs35920056	chr12:45710660-45710661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192103621	chr12:45710670-45710671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78158164	chr12:45710680-45710681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543396410	chr12:45710693-45710694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11182972	chr12:45710702-45710703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12817144	chr12:45710705-45710706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561392371	chr12:45710721-45710722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12817176	chr12:45710750-45710751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12812185	chr12:45710753-45710754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184650234	chr12:45710839-45710840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530307836	chr12:45710861-45710862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548503911	chr12:45710867-45710868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10632163	chr12:45710894-45710895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373635870	chr12:45710896-45710897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368344465	chr12:45710897-45710898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200564261	chr12:45710898-45710899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201057636	chr12:45710900-45710901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199740904	chr12:45710902-45710903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572959402	chr12:45710913-45710914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201070310	chr12:45710915-45710916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146703890	chr12:45710916-45710917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193115748	chr12:45710921-45710922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77784044	chr12:45711012-45711013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552506811	chr12:45711021-45711022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570915541	chr12:45711028-45711029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184286944	chr12:45711045-45711046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562526399	chr12:45711047-45711048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532985877	chr12:45711050-45711051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538003909	chr12:45711076-45711077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
4	chr12:45684400-45721800	Weak transcription	Esophagus	oesophagus
5	chr12:45692400-45721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:45693200-45725400	Weak transcription	Fetal Kidney	kidney
8	chr12:45693600-45730600	Weak transcription	NH-A	brain
9	chr12:45693800-45721800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:45695200-45741800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:45696400-45736600	Weak transcription	HepG2	liver
12	chr12:45696800-45721800	Weak transcription	HMEC	breast
13	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
14	chr12:45698200-45710000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:45698800-45710000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:45698800-45726000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:45698800-45726000	Weak transcription	Placenta	Placenta
18	chr12:45699000-45710000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:45699000-45741800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:45699400-45725400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:45699800-45715800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:45700000-45743600	Weak transcription	Gastric	stomach
24	chr12:45701400-45743400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:45704200-45715400	Weak transcription	A549	lung
26	chr12:45704200-45721600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:45704400-45720000	Weak transcription	HSMMtube	muscle
28	chr12:45704400-45721800	Weak transcription	Liver	Liver
29	chr12:45704800-45710000	Weak transcription	Osteobl	bone
30	chr12:45704800-45715600	Weak transcription	Psoas Muscle	Psoas
31	chr12:45704800-45715800	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:45704800-45716200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:45704800-45725000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:45704800-45725400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:45705200-45720400	Weak transcription	Ovary	ovary
36	chr12:45705800-45710200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:45706600-45710400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:45706600-45732400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:45706800-45710400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:45707000-45710000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:45707000-45710200	Strong transcription	Primary T cells from cord blood	blood
42	chr12:45707000-45710200	Strong transcription	Adipose Nuclei	Adipose
43	chr12:45707000-45710400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:45707000-45710400	Strong transcription	Fetal Thymus	thymus
45	chr12:45707200-45710000	Strong transcription	Dnd41	blood
46	chr12:45707200-45710200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:45707200-45710200	Strong transcription	Fetal Intestine Large	intestine
48	chr12:45707200-45710400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:45707200-45710400	Strong transcription	Fetal Lung	lung
50	chr12:45707200-45710800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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