Variant report

Variant	esv2762848
Chromosome Location	chr10:16420474-16436516
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	chr10:16425069..16427084-chr10:16526700..16529577,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1QL3-2	chr10:16428802-16429050	NONHSAT011594

Extended variants
information (count: 599 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182191722	chr10:16420482-16420483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60128616	chr10:16420499-16420500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186322007	chr10:16420539-16420540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191564944	chr10:16420554-16420555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180789277	chr10:16420577-16420578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570829748	chr10:16420628-16420629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141502632	chr10:16420671-16420672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12780823	chr10:16420677-16420678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12780831	chr10:16420684-16420685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556488043	chr10:16420688-16420689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575015014	chr10:16420707-16420708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147488939	chr10:16420735-16420736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563252965	chr10:16420765-16420766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12781000	chr10:16420780-16420781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554679236	chr10:16420801-16420802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139925240	chr10:16420830-16420831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540251494	chr10:16420842-16420843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3909039	chr10:16420858-16420859	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534474743	chr10:16420888-16420889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370491535	chr10:16420903-16420904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544479203	chr10:16420919-16420920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562632014	chr10:16420934-16420935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185205217	chr10:16420952-16420953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548063947	chr10:16420953-16420954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189910633	chr10:16420966-16420967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542870054	chr10:16420970-16420971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552153336	chr10:16420984-16420985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570470018	chr10:16421003-16421004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375269801	chr10:16421004-16421005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537445349	chr10:16421037-16421038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537837988	chr10:16421042-16421043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550495206	chr10:16421050-16421051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183216833	chr10:16421051-16421052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536082853	chr10:16421065-16421066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143840761	chr10:16421101-16421102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145524003	chr10:16421107-16421108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553773928	chr10:16421157-16421158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs3858180	chr10:16421199-16421200	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576956535	chr10:16421257-16421258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375966768	chr10:16421259-16421260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534957879	chr10:16421301-16421302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139689563	chr10:16421307-16421308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553268271	chr10:16421324-16421325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574645792	chr10:16421342-16421343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574610663	chr10:16421354-16421355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542105820	chr10:16421371-16421372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149753460	chr10:16421373-16421374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191537173	chr10:16421402-16421403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552292117	chr10:16421418-16421419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564235954	chr10:16421477-16421478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Renal cell carcinoma	18765545	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
DiGeorge-Velo cardiofacial	22470819	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
Adrenocortical carcinoma	18281524	CNVD
Digeorge syndrome	17576883	CNVD
Lung cancer	16773561	CNVD
Velocardiofacial syndrome	17576883	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:16403400-16428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:16409800-16428800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:16419600-16422000	Weak transcription	A549	lung
4	chr10:16420400-16420800	Weak transcription	Placenta	Placenta
5	chr10:16420800-16421200	Enhancers	Placenta	Placenta
6	chr10:16421400-16425200	Enhancers	HepG2	liver
7	chr10:16422000-16422800	Enhancers	A549	lung
8	chr10:16422800-16423200	Flanking Active TSS	A549	lung
9	chr10:16423200-16424000	Active TSS	A549	lung
10	chr10:16423200-16427000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr10:16424000-16424200	Flanking Active TSS	A549	lung
12	chr10:16424200-16424600	Enhancers	A549	lung
13	chr10:16424600-16424800	Enhancers	Fetal Brain Female	brain
14	chr10:16424800-16425800	Weak transcription	Fetal Brain Female	brain
15	chr10:16425600-16425800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:16425800-16426200	Enhancers	Brain Germinal Matrix	brain
17	chr10:16425800-16426400	Enhancers	Fetal Brain Female	brain
18	chr10:16425800-16426400	Enhancers	Fetal Muscle Leg	muscle
19	chr10:16426000-16426200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:16426000-16426400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:16426000-16426400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:16426000-16427600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr10:16426200-16426400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:16426200-16426400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr10:16426200-16426600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
26	chr10:16426200-16426600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:16426200-16427200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr10:16426400-16427400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr10:16426400-16428600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr10:16427000-16427200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr10:16427200-16428000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr10:16427200-16428200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr10:16427200-16428600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr10:16427400-16428600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr10:16427600-16428200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr10:16427600-16429800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr10:16428000-16428200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr10:16428200-16428400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr10:16428200-16428600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr10:16428200-16428600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr10:16428200-16429800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr10:16428400-16428600	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr10:16428600-16428800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr10:16428600-16428800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr10:16428600-16429000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr10:16428600-16429000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr10:16428600-16429000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr10:16428600-16429000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr10:16428600-16429800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:16428800-16429000	Active TSS	H1 Cell Line	embryonic stem cell

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