Variant report

Variant	esv3336591
Chromosome Location	chr19:40647161-40670363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40650738..40653619-chr19:40655657..40658931,4	K562	blood:
2	chr19:40650738..40653619-chr19:40655657..40658931,4	K562	blood:
3	chr19:40661269..40662213-chr19:40727546..40728443,4	MCF-7	breast:
4	chr19:40670201..40673049-chr19:40785070..40788229,3	MCF-7	breast:
5	chr19:40645584..40647584-chr19:40649751..40651905,2	K562	blood:
6	chr19:40645584..40647584-chr19:40649751..40651905,2	K562	blood:

Variant related genes	Relation type
ENSG00000105221	chromatin interactions

Extended variants
information (count: 926 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7250298	chr19:40647161-40647162	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140715730	chr19:40647180-40647181	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs567160071	chr19:40647181-40647182	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs374431797	chr19:40647185-40647186	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544530990	chr19:40647191-40647192	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs73551668	chr19:40647219-40647220	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115912620	chr19:40647291-40647292	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs571565598	chr19:40647332-40647333	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538247420	chr19:40647352-40647353	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575373273	chr19:40647455-40647456	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555866840	chr19:40647483-40647484	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570906632	chr19:40647484-40647485	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs143840858	chr19:40647511-40647512	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs79466090	chr19:40647524-40647525	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs572328600	chr19:40647532-40647533	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs542425311	chr19:40647544-40647545	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs28890790	chr19:40647686-40647687	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs576334464	chr19:40647721-40647722	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112523957	chr19:40647806-40647807	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs552715048	chr19:40647854-40647855	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs563013991	chr19:40647874-40647875	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533322019	chr19:40647919-40647920	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369241561	chr19:40647968-40647969	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs150634356	chr19:40648055-40648056	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs560593229	chr19:40648082-40648083	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs544011026	chr19:40648092-40648093	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563829635	chr19:40648123-40648124	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs554723052	chr19:40648155-40648156	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs528002255	chr19:40648182-40648183	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs139160179	chr19:40648207-40648208	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs567497906	chr19:40648208-40648209	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs551251674	chr19:40648233-40648234	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs573462570	chr19:40648276-40648277	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs532812542	chr19:40648286-40648287	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs143148036	chr19:40648315-40648316	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs571013042	chr19:40648399-40648400	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs147456063	chr19:40648419-40648420	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs538229391	chr19:40648488-40648489	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs553747509	chr19:40648492-40648493	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs139912738	chr19:40648496-40648497	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540859422	chr19:40648508-40648509	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs536528321	chr19:40648520-40648521	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554616752	chr19:40648532-40648533	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs576297295	chr19:40648533-40648534	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs111340629	chr19:40648542-40648543	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs543653930	chr19:40648549-40648550	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs556644731	chr19:40648553-40648554	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs559288354	chr19:40648612-40648613	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs577504347	chr19:40648705-40648706	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs544586338	chr19:40648751-40648752	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40646200-40647400	Weak transcription	Adipose Nuclei	Adipose
2	chr19:40646200-40647800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr19:40646200-40647800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:40646200-40648000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:40646200-40648400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr19:40646400-40647400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr19:40646400-40648000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:40647000-40647600	Active TSS	GM12878-XiMat	blood
9	chr19:40647400-40648600	Enhancers	Adipose Nuclei	Adipose
10	chr19:40647400-40654400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr19:40647600-40647800	Flanking Active TSS	GM12878-XiMat	blood
12	chr19:40647800-40648000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:40647800-40648000	Active TSS	GM12878-XiMat	blood
14	chr19:40647800-40648200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:40647800-40648600	Enhancers	Hela-S3	cervix
16	chr19:40647800-40649000	Enhancers	Primary B cells from cord blood	blood
17	chr19:40647800-40649400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:40647800-40654000	Enhancers	Primary B cells from peripheral blood	blood
19	chr19:40648000-40648200	Flanking Active TSS	GM12878-XiMat	blood
20	chr19:40648000-40648600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:40648000-40652200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:40648000-40652400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr19:40648000-40654200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr19:40648200-40648400	Active TSS	GM12878-XiMat	blood
25	chr19:40648200-40648600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:40648200-40649200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:40648200-40649400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr19:40648200-40654600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr19:40648400-40649000	Flanking Active TSS	GM12878-XiMat	blood
30	chr19:40648400-40649800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr19:40648400-40650000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr19:40648400-40650200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr19:40648400-40652400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:40648400-40652600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr19:40648600-40649200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:40648600-40650200	Weak transcription	Adipose Nuclei	Adipose
37	chr19:40648600-40653200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:40648600-40653200	Weak transcription	Hela-S3	cervix
39	chr19:40648800-40649200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr19:40648800-40649800	Enhancers	Primary hematopoietic stem cells	blood
41	chr19:40648800-40651200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:40648800-40655000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr19:40649000-40649600	Enhancers	Primary T cells from cord blood	blood
44	chr19:40649000-40650000	Active TSS	GM12878-XiMat	blood
45	chr19:40649000-40650200	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr19:40649200-40649400	Enhancers	Brain Hippocampus Middle	brain
47	chr19:40649200-40649400	Enhancers	Fetal Muscle Trunk	muscle
48	chr19:40649200-40650200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:40649200-40650200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:40649200-40650200	Enhancers	Fetal Brain Male	brain

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