Variant report

Variant	esv3371676
Chromosome Location	chr19:39091312-39096310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

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	MYC	chr19:39092102-39092114	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:39094667-39094686	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:39092100-39092213	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:39092059-39092068	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:39091763-39092297	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:39091817-39092010	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:39090496-39091423	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:39090847-39091423	GM12892	blood:	n/a	n/a
11	POLR2A	chr19:39091716-39092163	GM12892	blood:	n/a	n/a
12	POLR2A	chr19:39094883-39094899	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:39090425-39091327	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:39092096-39092309	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:39092030-39092231	MCF-7	breast:	n/a	n/a
16	POLR2A	chr19:39091934-39091939	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:39096167-39096777	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:39092139-39092200	MCF-7	breast:	n/a	n/a
19	POLR2A	chr19:39091683-39092099	GM12892	blood:	n/a	n/a
20	POLR2A	chr19:39091792-39092030	GM12891	blood:	n/a	n/a
21	POLR2A	chr19:39091950-39092027	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:39091747-39091758	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:39090649-39091383	GM12891	blood:	n/a	n/a
24	TCF7L2	chr19:39091018-39091366	PANC-1	pancreas:	n/a	chr19:39091225-39091241 chr19:39091226-39091240 chr19:39091229-39091238 chr19:39091225-39091241
25	ZNF384	chr19:39094497-39095110	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39091925..39094839-chr19:39095384..39098392,6	K562	blood:
2	chr19:39086632..39088965-chr19:39089842..39091395,2	K562	blood:
3	chr19:39090721..39094839-chr19:39095384..39098942,6	K562	blood:
4	chr19:39096157..39098643-chr19:39100433..39102103,2	MCF-7	breast:
5	chr19:39091925..39094839-chr19:39095384..39098392,6	K562	blood:
6	chr19:39090721..39094839-chr19:39095384..39098942,6	K562	blood:
7	chr19:39095963..39098399-chr19:39108992..39111543,2	K562	blood:

No data

Variant related genes	Relation type
MAP4K1	TF binding region
ENSG00000267291	chromatin interactions
ENSG00000104814	chromatin interactions
ENSG00000178982	chromatin interactions

Extended variants
information (count: 317 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539324904	chr19:39091344-39091345	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs181028209	chr19:39091389-39091390	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs186450330	chr19:39091392-39091393	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560496607	chr19:39091440-39091441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12980810	chr19:39091463-39091464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536314664	chr19:39091531-39091532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555083577	chr19:39091635-39091636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190890078	chr19:39091645-39091646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543837201	chr19:39091649-39091650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4592774	chr19:39091668-39091669	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541551238	chr19:39091690-39091691	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs182494283	chr19:39091693-39091694	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs186288016	chr19:39091725-39091726	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs562352241	chr19:39091741-39091742	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs527499166	chr19:39091782-39091783	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs144794033	chr19:39091862-39091863	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536572574	chr19:39091986-39091987	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs368659736	chr19:39092065-39092066	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs531344324	chr19:39092105-39092106	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs35423612	chr19:39092142-39092143	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs199685763	chr19:39092144-39092145	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs113414017	chr19:39092168-39092169	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs191010751	chr19:39092181-39092182	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs548085669	chr19:39092189-39092190	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs367989286	chr19:39092201-39092202	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs536832350	chr19:39092208-39092209	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs371529081	chr19:39092209-39092210	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs555250803	chr19:39092223-39092224	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs576602306	chr19:39092244-39092245	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs573141786	chr19:39092307-39092308	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs537552079	chr19:39092331-39092332	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376628400	chr19:39092347-39092348	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375096035	chr19:39092357-39092358	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183412272	chr19:39092364-39092365	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559752466	chr19:39092365-39092366	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551592601	chr19:39092367-39092368	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577192884	chr19:39092370-39092371	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187367290	chr19:39092380-39092381	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11880946	chr19:39092410-39092411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554021013	chr19:39092530-39092531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572280872	chr19:39092545-39092546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2098657	chr19:39092610-39092611	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs375609037	chr19:39092633-39092634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531257319	chr19:39092671-39092672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545056345	chr19:39092681-39092682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564691710	chr19:39092741-39092742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532118005	chr19:39092763-39092764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547104560	chr19:39092832-39092833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368410696	chr19:39092872-39092873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10408718	chr19:39092877-39092878	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:73 , 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	chr19:39078200-39092200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:39086400-39096600	Weak transcription	Fetal Thymus	thymus
10	chr19:39086400-39098400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr19:39086800-39096600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:39087200-39107800	Weak transcription	Colonic Mucosa	Colon
13	chr19:39087400-39107400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr19:39087400-39108200	Weak transcription	Gastric	stomach
15	chr19:39087400-39108800	Weak transcription	Right Atrium	heart
16	chr19:39088200-39091800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:39088200-39096200	Weak transcription	Spleen	Spleen
18	chr19:39088400-39096600	Weak transcription	Dnd41	blood
19	chr19:39088400-39098400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr19:39088600-39096200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr19:39088600-39100200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr19:39089200-39094200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr19:39090000-39091400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr19:39090000-39092600	Strong transcription	Primary T cells from cord blood	blood
25	chr19:39090200-39091400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr19:39090400-39092400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:39090400-39092600	Strong transcription	Primary B cells from cord blood	blood
28	chr19:39090600-39092200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr19:39090800-39094600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:39091000-39094400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr19:39091200-39092000	Weak transcription	Thymus	Thymus
32	chr19:39091200-39094200	Weak transcription	GM12878-XiMat	blood
33	chr19:39091200-39094400	Weak transcription	K562	blood
34	chr19:39091200-39094800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr19:39091200-39095600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:39091400-39094600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr19:39091400-39095600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr19:39091800-39092400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:39092000-39092400	Strong transcription	Thymus	Thymus
40	chr19:39092200-39094200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr19:39092200-39095800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:39092400-39094800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:39092400-39095400	Weak transcription	Thymus	Thymus
44	chr19:39092400-39097000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:39092600-39094800	Weak transcription	Primary T cells from cord blood	blood
46	chr19:39092600-39095600	Weak transcription	Primary B cells from cord blood	blood
47	chr19:39092600-39109000	Weak transcription	Small Intestine	intestine
48	chr19:39092800-39094400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr19:39093000-39094600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:39093200-39094000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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