Variant report

Variant	esv3414622
Chromosome Location	chr12:45599685-45601883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45601556..45603272-chr12:45608951..45610843,2	K562	blood:
2	chr12:45600941..45603033-chr12:45611069..45612571,2	K562	blood:
3	chr12:45594592..45596629-chr12:45598522..45601377,2	MCF-7	breast:
4	chr12:45600294..45606822-chr12:45606984..45612571,15	K562	blood:
5	chr12:45593253..45599943-chr12:45607385..45612735,9	MCF-7	breast:
6	chr12:45600353..45602276-chr12:45606984..45608577,2	K562	blood:

Variant related genes	Relation type
ENSG00000134297	chromatin interactions
ENSG00000177119	chromatin interactions
ENSG00000257738	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568635705	chr12:45599704-45599705	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs183353728	chr12:45599714-45599715	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs137960417	chr12:45599715-45599716	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs548001730	chr12:45599754-45599755	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs372995302	chr12:45599777-45599778	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs12312979	chr12:45599786-45599787	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs199551021	chr12:45599790-45599791	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs374764926	chr12:45599791-45599792	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs539893601	chr12:45599800-45599801	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs571454650	chr12:45599803-45599804	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs77806166	chr12:45599805-45599806	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs111679324	chr12:45599807-45599808	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs199938504	chr12:45599811-45599812	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs116221996	chr12:45599873-45599874	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs115399569	chr12:45599895-45599896	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs116716830	chr12:45599900-45599901	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs573589341	chr12:45599965-45599966	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143105451	chr12:45599994-45599995	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552706138	chr12:45599996-45599997	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577427344	chr12:45600032-45600033	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370477197	chr12:45600039-45600040	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373769347	chr12:45600040-45600041	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs367985150	chr12:45600041-45600042	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201894891	chr12:45600042-45600043	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192778491	chr12:45600056-45600057	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544671710	chr12:45600071-45600072	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377320405	chr12:45600099-45600100	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs563260299	chr12:45600119-45600120	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530655244	chr12:45600187-45600188	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542239680	chr12:45600254-45600255	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183585233	chr12:45600266-45600267	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs114371170	chr12:45600277-45600278	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs117262181	chr12:45600347-45600348	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs566235898	chr12:45600352-45600353	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs138525016	chr12:45600418-45600419	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs141427150	chr12:45600455-45600456	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs371069880	chr12:45600456-45600457	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs55732644	chr12:45600477-45600478	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs561080395	chr12:45600514-45600515	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs113929107	chr12:45600523-45600524	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs570037213	chr12:45600524-45600525	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs537592138	chr12:45600559-45600560	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs373426377	chr12:45600573-45600574	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs376462804	chr12:45600575-45600576	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs555474306	chr12:45600593-45600594	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs567328934	chr12:45600611-45600612	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs534567632	chr12:45600613-45600614	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs187931327	chr12:45600615-45600616	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs192497809	chr12:45600622-45600623	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs184558376	chr12:45600645-45600646	Weak transcription	Chromatin interactive region	3 gene(s)	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45586600-45602400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:45593400-45600000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:45595200-45599800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:45595200-45608600	Weak transcription	Fetal Thymus	thymus
5	chr12:45595200-45608600	Weak transcription	Small Intestine	intestine
6	chr12:45595400-45608600	Weak transcription	Fetal Intestine Large	intestine
7	chr12:45596800-45600400	Enhancers	Liver	Liver
8	chr12:45597000-45600400	Enhancers	Adipose Nuclei	Adipose
9	chr12:45598200-45600400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:45598200-45600400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:45598600-45599800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr12:45598600-45600000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:45598600-45600200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:45598600-45600400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:45598600-45600400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:45598800-45600000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:45598800-45600200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:45598800-45600400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:45598800-45600400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:45599000-45600200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr12:45599000-45600200	Enhancers	Primary T cells from cord blood	blood
22	chr12:45599000-45600200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:45599000-45600400	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:45599000-45600400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr12:45599200-45599800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:45599200-45600000	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:45599200-45600000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:45599200-45600000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:45599200-45600200	Enhancers	Primary B cells from cord blood	blood
30	chr12:45599200-45600200	Enhancers	Thymus	Thymus
31	chr12:45599200-45600200	Enhancers	GM12878-XiMat	blood
32	chr12:45599200-45600400	Enhancers	HUVEC	blood vessel
33	chr12:45599400-45599800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr12:45599400-45600200	Enhancers	Dnd41	blood
35	chr12:45599400-45600400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:45599400-45600400	Enhancers	Spleen	Spleen
37	chr12:45599400-45601400	Weak transcription	HepG2	liver
38	chr12:45599800-45600000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:45599800-45600200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr12:45599800-45600200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:45599800-45600400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:45600000-45600200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr12:45600000-45600200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:45600000-45600200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr12:45600000-45600400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:45600000-45608600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:45600200-45600400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:45600200-45600400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:45600200-45600400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:45600200-45600400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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