Variant report

Variant	esv11884
Chromosome Location	chr19:43035285-43037914
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	FOS	chr19:43035603-43035732	MCF10A-Er-Src	breast:	n/a	chr19:43035688-43035697
2	JUND	chr19:43035523-43035723	HepG2	liver:	n/a	chr19:43035688-43035697
3	POLR2A	chr19:43037184-43037364	MCF10A-Er-Src	breast:	n/a	n/a
4	RCOR1	chr19:43035719-43035722	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CEACAM1	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186460895	chr19:43035311-43035312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540619384	chr19:43035317-43035318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11665686	chr19:43035370-43035371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191237766	chr19:43035385-43035386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182728370	chr19:43035389-43035390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557606739	chr19:43035400-43035401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577761748	chr19:43035473-43035474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187855640	chr19:43035509-43035510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565163425	chr19:43035569-43035570	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs191149645	chr19:43035598-43035599	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs573999998	chr19:43035599-43035600	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs577498607	chr19:43035631-43035632	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs143488018	chr19:43035633-43035634	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs562872229	chr19:43035658-43035659	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs71361019	chr19:43035668-43035669	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs183321231	chr19:43035721-43035722	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs187762606	chr19:43035742-43035743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192258861	chr19:43035758-43035759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527873264	chr19:43035766-43035767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7246161	chr19:43035767-43035768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10451439	chr19:43035805-43035806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544916712	chr19:43035830-43035831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530333060	chr19:43035842-43035843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371547212	chr19:43035905-43035906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544742322	chr19:43035937-43035938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11670962	chr19:43035945-43035946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548527765	chr19:43035957-43035958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376615397	chr19:43036016-43036017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568502188	chr19:43036023-43036024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531252805	chr19:43036027-43036028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551432002	chr19:43036037-43036038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571287925	chr19:43036090-43036091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140350133	chr19:43036139-43036140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559570096	chr19:43036200-43036201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11671043	chr19:43036208-43036209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs57675141	chr19:43036226-43036227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185107275	chr19:43036266-43036267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567519188	chr19:43036283-43036284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530620866	chr19:43036294-43036295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188006459	chr19:43036351-43036352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76987508	chr19:43036458-43036459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368313235	chr19:43036492-43036493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556546694	chr19:43036508-43036509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576363582	chr19:43036530-43036531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545106906	chr19:43036565-43036566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372070880	chr19:43036566-43036567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558978579	chr19:43036594-43036595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192889618	chr19:43036608-43036609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561026727	chr19:43036618-43036619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572473114	chr19:43036626-43036627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43033600-43035400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:43033600-43035400	Weak transcription	HMEC	breast
3	chr19:43033600-43035600	Weak transcription	Esophagus	oesophagus
4	chr19:43033600-43036200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr19:43033600-43037000	Weak transcription	Spleen	Spleen
6	chr19:43033600-43038400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:43033600-43043000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:43033600-43043800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:43033600-43044200	Weak transcription	Gastric	stomach
10	chr19:43033800-43035400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:43033800-43037000	Weak transcription	Brain Anterior Caudate	brain
12	chr19:43033800-43037600	Weak transcription	Liver	Liver
13	chr19:43033800-43038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:43033800-43038600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:43033800-43039200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr19:43033800-43040000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr19:43033800-43043400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:43033800-43044200	Weak transcription	Brain Substantia Nigra	brain
19	chr19:43034000-43037000	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:43034000-43038400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:43034000-43038400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:43034000-43038600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:43034000-43039800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:43034000-43043000	Weak transcription	Adipose Nuclei	Adipose
25	chr19:43034200-43038400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:43034200-43038400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:43034200-43038400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:43034200-43043600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:43035000-43035600	Enhancers	HepG2	liver
30	chr19:43035200-43037600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr19:43035400-43035800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:43035400-43036000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:43035400-43036800	Enhancers	HMEC	breast
34	chr19:43035600-43035800	Enhancers	NHEK	skin
35	chr19:43035600-43036000	Enhancers	Esophagus	oesophagus
36	chr19:43036800-43042800	Weak transcription	HMEC	breast
37	chr19:43037000-43037200	Active TSS	Spleen	Spleen
38	chr19:43037000-43037400	Enhancers	Brain Anterior Caudate	brain
39	chr19:43037000-43037600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:43037000-43037600	Enhancers	Brain Hippocampus Middle	brain
41	chr19:43037000-43038000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr19:43037400-43039400	Weak transcription	Brain Anterior Caudate	brain
43	chr19:43037600-43039200	Weak transcription	Brain Hippocampus Middle	brain
44	chr19:43037600-43042800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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