Variant report

Variant	esv2654909
Chromosome Location	chr15:35008307-35010034
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:35001097..35003090-chr15:35007070..35008790,2	K562	blood:
2	chr15:35005678..35008340-chr15:35281317..35283659,2	K562	blood:
3	chr15:35005516..35008329-chr15:35009732..35011993,2	K562	blood:
4	chr15:35005516..35008329-chr15:35009732..35011993,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557447580	chr15:35008307-35008308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191209875	chr15:35008322-35008323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs685352	chr15:35008335-35008336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs574055814	chr15:35008376-35008377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544740344	chr15:35008394-35008395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537132671	chr15:35008447-35008448	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs115525069	chr15:35008448-35008449	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs145001330	chr15:35008451-35008452	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114355194	chr15:35008452-35008453	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559963301	chr15:35008453-35008454	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs375523448	chr15:35008468-35008469	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs28668120	chr15:35008478-35008479	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs114173486	chr15:35008509-35008510	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs375245386	chr15:35008547-35008548	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs545417169	chr15:35008553-35008554	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368172925	chr15:35008565-35008566	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs684374	chr15:35008592-35008593	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs77118027	chr15:35008605-35008606	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs684000	chr15:35008634-35008635	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs142124960	chr15:35008642-35008643	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528057219	chr15:35008650-35008651	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs183297494	chr15:35008674-35008675	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs683922	chr15:35008676-35008677	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs565992727	chr15:35008778-35008779	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs528426135	chr15:35008803-35008804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375276683	chr15:35008804-35008805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113840762	chr15:35008805-35008806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61179689	chr15:35008819-35008820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12899593	chr15:35008868-35008869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551435031	chr15:35008879-35008880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188512033	chr15:35008890-35008891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193041998	chr15:35008894-35008895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555461595	chr15:35008930-35008931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566014030	chr15:35008962-35008963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183015654	chr15:35008967-35008968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs58419065	chr15:35008981-35008982	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs115655727	chr15:35008992-35008993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200981311	chr15:35009034-35009035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs202243794	chr15:35009035-35009036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200491151	chr15:35009036-35009037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563342441	chr15:35009037-35009038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575195243	chr15:35009038-35009039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542727262	chr15:35009042-35009043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561017458	chr15:35009043-35009044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62006116	chr15:35009179-35009180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528556149	chr15:35009203-35009204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547603294	chr15:35009211-35009212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559273182	chr15:35009214-35009215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62006117	chr15:35009242-35009243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533304567	chr15:35009255-35009256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35001200-35009800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:35001600-35013600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:35003000-35011000	Weak transcription	HSMM	muscle
4	chr15:35004000-35008400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:35005800-35008400	Weak transcription	Aorta	Aorta
6	chr15:35006200-35008400	Weak transcription	Left Ventricle	heart
7	chr15:35006400-35011000	Weak transcription	Right Atrium	heart
8	chr15:35007400-35009600	Weak transcription	HSMMtube	muscle
9	chr15:35007400-35011800	Weak transcription	K562	blood
10	chr15:35008000-35009800	Enhancers	Liver	Liver
11	chr15:35008200-35008400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr15:35008200-35008400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr15:35008200-35010000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr15:35008400-35008600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:35008400-35008600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:35008400-35008600	ZNF genes & repeats	Aorta	Aorta
17	chr15:35008400-35008600	Enhancers	Left Ventricle	heart
18	chr15:35008400-35008600	Bivalent Enhancer	Pancreas	Pancrea
19	chr15:35008400-35008600	Enhancers	Psoas Muscle	Psoas
20	chr15:35008400-35008600	Enhancers	Right Ventricle	heart
21	chr15:35008400-35008600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr15:35008400-35008600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr15:35008400-35008800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:35008400-35008800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr15:35008600-35008800	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr15:35008600-35009600	Weak transcription	Psoas Muscle	Psoas
27	chr15:35008600-35010000	Enhancers	Fetal Muscle Leg	muscle
28	chr15:35008600-35011000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:35008600-35011000	Weak transcription	Right Ventricle	heart
30	chr15:35008600-35011600	Weak transcription	Left Ventricle	heart
31	chr15:35008600-35011800	Weak transcription	Aorta	Aorta
32	chr15:35008600-35014200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr15:35008800-35010200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:35008800-35010200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:35008800-35014200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr15:35009400-35015200	Enhancers	Fetal Heart	heart
37	chr15:35009600-35009800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:35009600-35010000	Enhancers	Psoas Muscle	Psoas
39	chr15:35009600-35011800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:35009600-35012200	Enhancers	HSMMtube	muscle
41	chr15:35009600-35014000	Enhancers	Hela-S3	cervix
42	chr15:35009800-35011000	Weak transcription	Liver	Liver
43	chr15:35010000-35011000	Weak transcription	Fetal Muscle Leg	muscle
44	chr15:35010000-35011000	Weak transcription	Psoas Muscle	Psoas
45	chr15:35010000-35013600	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links