Variant report

Variant	esv2619796
Chromosome Location	chr12:40005886-40007472
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	chr12:40005732..40008128-chr12:40008934..40010953,2	K562	blood:
2	chr12:40006374..40007995-chr12:40011197..40013165,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 56 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565709372	chr12:40005910-40005911	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs533200940	chr12:40005949-40005950	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551837940	chr12:40005994-40005995	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570092849	chr12:40006046-40006047	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs181830674	chr12:40006054-40006055	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185195004	chr12:40006102-40006103	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555639974	chr12:40006135-40006136	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs142632825	chr12:40006137-40006138	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535307176	chr12:40006158-40006159	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12824320	chr12:40006177-40006178	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs374185831	chr12:40006187-40006188	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs527597567	chr12:40006241-40006242	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs150980248	chr12:40006242-40006243	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557829403	chr12:40006249-40006250	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576011187	chr12:40006383-40006384	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs76337729	chr12:40006401-40006402	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139539559	chr12:40006402-40006403	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573524762	chr12:40006442-40006443	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115634220	chr12:40006466-40006467	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376147731	chr12:40006576-40006577	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189710482	chr12:40006624-40006625	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533351766	chr12:40006705-40006706	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149692547	chr12:40006706-40006707	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs182686002	chr12:40006736-40006737	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs530874413	chr12:40006775-40006776	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs186602585	chr12:40006820-40006821	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs567835593	chr12:40006840-40006841	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs535264885	chr12:40006856-40006857	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543585962	chr12:40006902-40006903	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs112300505	chr12:40006906-40006907	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs12312240	chr12:40006908-40006909	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs111794113	chr12:40006910-40006911	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs539324617	chr12:40006922-40006923	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs12312247	chr12:40006927-40006928	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs373917472	chr12:40006931-40006932	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564701137	chr12:40006941-40006942	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs191062061	chr12:40006966-40006967	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs557393501	chr12:40006983-40006984	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs138675654	chr12:40006988-40006989	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs12312301	chr12:40007042-40007043	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573486273	chr12:40007044-40007045	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs71449731	chr12:40007048-40007049	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs12312309	chr12:40007061-40007062	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs71449732	chr12:40007185-40007186	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs71075064	chr12:40007219-40007220	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540868727	chr12:40007222-40007223	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs559220401	chr12:40007242-40007243	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs547623955	chr12:40007341-40007342	Genic enhancers Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs577819340	chr12:40007401-40007402	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs545303485	chr12:40007409-40007410	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Cancer	20164919	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	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39963800-40010200	Weak transcription	Left Ventricle	heart
2	chr12:39966800-40009400	Weak transcription	Primary T cells from cord blood	blood
3	chr12:39980200-40006000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:39980200-40009200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:39996400-40007800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:39996800-40009400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:39999600-40009800	Weak transcription	Brain Anterior Caudate	brain
8	chr12:40000200-40009400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:40000200-40010200	Weak transcription	Brain Substantia Nigra	brain
10	chr12:40001200-40010000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:40002000-40009800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:40003400-40006400	Active TSS	GM12878-XiMat	blood
13	chr12:40004400-40009200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:40004600-40006400	Weak transcription	Adipose Nuclei	Adipose
15	chr12:40004600-40007400	Weak transcription	Fetal Brain Female	brain
16	chr12:40004800-40006600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:40005000-40012200	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:40005200-40006800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:40005400-40006800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:40005600-40006000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:40005600-40006000	Enhancers	Fetal Brain Male	brain
22	chr12:40005600-40007800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:40005600-40008600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:40005800-40006400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:40005800-40006800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:40005800-40006800	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:40005800-40007800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr12:40006000-40007800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:40006000-40007800	Weak transcription	Fetal Brain Male	brain
30	chr12:40006000-40008200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:40006400-40006600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr12:40006400-40006600	Enhancers	Adipose Nuclei	Adipose
33	chr12:40006400-40006800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
34	chr12:40006600-40006800	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr12:40006600-40007400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:40006600-40007400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:40006800-40007000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:40006800-40007400	Enhancers	Adipose Nuclei	Adipose
39	chr12:40006800-40007600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:40006800-40007800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:40006800-40009400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:40006800-40015000	Active TSS	GM12878-XiMat	blood
43	chr12:40007000-40007200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:40007200-40007400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:40007200-40008000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:40007400-40007600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:40007400-40007600	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr12:40007400-40007600	Enhancers	Fetal Brain Female	brain
49	chr12:40007400-40007800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:40007400-40008000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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