Variant report

Variant	esv3372464
Chromosome Location	chr19:39092312-39095110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:39093406-39093432	Lung_OC	lung:	n/a	n/a
2	JUND	chr19:39094974-39094988	K562	blood:	n/a	n/a
3	POLR2A	chr19:39094883-39094899	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:39094667-39094686	GM12878	blood:	n/a	n/a
5	ZNF384	chr19:39094497-39095110	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39091925..39094839-chr19:39095384..39098392,6	K562	blood:
2	chr19:39090721..39094839-chr19:39095384..39098942,6	K562	blood:

Variant related genes	Relation type
MAP4K1	TF binding region

Extended variants
information (count: 250 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537552079	chr19:39092331-39092332	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376628400	chr19:39092347-39092348	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375096035	chr19:39092357-39092358	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183412272	chr19:39092364-39092365	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559752466	chr19:39092365-39092366	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551592601	chr19:39092367-39092368	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577192884	chr19:39092370-39092371	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187367290	chr19:39092380-39092381	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11880946	chr19:39092410-39092411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554021013	chr19:39092530-39092531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572280872	chr19:39092545-39092546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2098657	chr19:39092610-39092611	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375609037	chr19:39092633-39092634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531257319	chr19:39092671-39092672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545056345	chr19:39092681-39092682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564691710	chr19:39092741-39092742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532118005	chr19:39092763-39092764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547104560	chr19:39092832-39092833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368410696	chr19:39092872-39092873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10408718	chr19:39092877-39092878	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530458540	chr19:39092885-39092886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552166282	chr19:39092912-39092913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112101840	chr19:39092916-39092917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548761606	chr19:39092958-39092959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570266346	chr19:39093000-39093001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530502291	chr19:39093017-39093018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368535417	chr19:39093018-39093019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144580777	chr19:39093024-39093025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200364062	chr19:39093052-39093053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561068704	chr19:39093056-39093057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531529302	chr19:39093057-39093058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559112688	chr19:39093058-39093059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570894522	chr19:39093060-39093061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542601556	chr19:39093070-39093071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534997560	chr19:39093073-39093074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561154550	chr19:39093079-39093080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553141898	chr19:39093107-39093108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147992410	chr19:39093121-39093122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549737661	chr19:39093124-39093125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141626709	chr19:39093127-39093128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554312653	chr19:39093131-39093132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548561651	chr19:39093140-39093141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575845653	chr19:39093146-39093147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528351956	chr19:39093148-39093149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546819551	chr19:39093150-39093151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564971222	chr19:39093161-39093162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377101145	chr19:39093170-39093171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192250023	chr19:39093178-39093179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183137577	chr19:39093179-39093180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571305272	chr19:39093180-39093181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	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
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	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

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39070600-39100000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:39074800-39101600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr19:39076600-39093200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:39076800-39092800	Strong transcription	Primary B cells from peripheral blood	blood
5	chr19:39077000-39101600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:39077200-39103200	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr19:39077800-39093000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:39086400-39096600	Weak transcription	Fetal Thymus	thymus
9	chr19:39086400-39098400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:39086800-39096600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:39087200-39107800	Weak transcription	Colonic Mucosa	Colon
12	chr19:39087400-39107400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr19:39087400-39108200	Weak transcription	Gastric	stomach
14	chr19:39087400-39108800	Weak transcription	Right Atrium	heart
15	chr19:39088200-39096200	Weak transcription	Spleen	Spleen
16	chr19:39088400-39096600	Weak transcription	Dnd41	blood
17	chr19:39088400-39098400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:39088600-39096200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:39088600-39100200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:39089200-39094200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr19:39090000-39092600	Strong transcription	Primary T cells from cord blood	blood
22	chr19:39090400-39092400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:39090400-39092600	Strong transcription	Primary B cells from cord blood	blood
24	chr19:39090800-39094600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:39091000-39094400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr19:39091200-39094200	Weak transcription	GM12878-XiMat	blood
27	chr19:39091200-39094400	Weak transcription	K562	blood
28	chr19:39091200-39094800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr19:39091200-39095600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:39091400-39094600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr19:39091400-39095600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr19:39091800-39092400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:39092000-39092400	Strong transcription	Thymus	Thymus
34	chr19:39092200-39094200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr19:39092200-39095800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:39092400-39094800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:39092400-39095400	Weak transcription	Thymus	Thymus
38	chr19:39092400-39097000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:39092600-39094800	Weak transcription	Primary T cells from cord blood	blood
40	chr19:39092600-39095600	Weak transcription	Primary B cells from cord blood	blood
41	chr19:39092600-39109000	Weak transcription	Small Intestine	intestine
42	chr19:39092800-39094400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr19:39093000-39094600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:39093200-39094000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:39094000-39104600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:39094200-39095200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:39094200-39097800	Strong transcription	GM12878-XiMat	blood
48	chr19:39094200-39104200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:39094400-39095000	Enhancers	K562	blood
50	chr19:39094400-39104200	Strong transcription	Primary B cells from peripheral blood	blood

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