Variant report

Variant	esv3340196
Chromosome Location	chr15:35128460-35132758
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	chr15:35087392..35089811-chr15:35132237..35134619,2	K562	blood:
2	chr15:35130591..35132648-chr15:35139707..35142491,2	K562	blood:

Variant related genes	Relation type
ENSG00000159251	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554235908	chr15:35128812-35128813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113043383	chr15:35128817-35128818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530819118	chr15:35128830-35128831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150129856	chr15:35128884-35128885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567258166	chr15:35128896-35128897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191389616	chr15:35128901-35128902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72717416	chr15:35128913-35128914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183308983	chr15:35128976-35128977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186514370	chr15:35129037-35129038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138460782	chr15:35129043-35129044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112318979	chr15:35129073-35129074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11854124	chr15:35129095-35129096	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536960520	chr15:35129098-35129099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60422488	chr15:35129107-35129108	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573209847	chr15:35129141-35129142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141605813	chr15:35129213-35129214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58757205	chr15:35129219-35129220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544117161	chr15:35129231-35129232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190093727	chr15:35129235-35129236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563485694	chr15:35129289-35129290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146187291	chr15:35129351-35129352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549282740	chr15:35129371-35129372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551184258	chr15:35129406-35129407	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs560988549	chr15:35129415-35129416	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs528121477	chr15:35129416-35129417	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs182292963	chr15:35129473-35129474	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs562106421	chr15:35129483-35129484	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs139076900	chr15:35129494-35129495	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs377653938	chr15:35129535-35129536	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs75717545	chr15:35129541-35129542	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs370922860	chr15:35129638-35129639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370615076	chr15:35129666-35129667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569110356	chr15:35129716-35129717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536416182	chr15:35129731-35129732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144388080	chr15:35129743-35129744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74244336	chr15:35129761-35129762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544727730	chr15:35129874-35129875	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs367650151	chr15:35129911-35129912	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs148780578	chr15:35129912-35129913	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs552955258	chr15:35129920-35129921	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs577271708	chr15:35130053-35130054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142407690	chr15:35130057-35130058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186613042	chr15:35130092-35130093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575414064	chr15:35130096-35130097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560186345	chr15:35130107-35130108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370286376	chr15:35130110-35130111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151293698	chr15:35130151-35130152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373750826	chr15:35130186-35130187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561262079	chr15:35130193-35130194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192575624	chr15:35130194-35130195	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35128800-35129400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:35128800-35130200	Enhancers	Hela-S3	cervix
3	chr15:35128800-35130400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:35128800-35142400	Weak transcription	Pancreas	Pancrea
5	chr15:35129000-35130000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:35129000-35130000	Enhancers	K562	blood
7	chr15:35129000-35130000	Enhancers	NHEK	skin
8	chr15:35129000-35130200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:35129000-35130400	Enhancers	HSMM	muscle
10	chr15:35129000-35130400	Enhancers	HSMMtube	muscle
11	chr15:35129200-35129400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr15:35129200-35129800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:35129200-35130000	Enhancers	HMEC	breast
14	chr15:35129200-35130000	Enhancers	HUVEC	blood vessel
15	chr15:35129200-35130200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:35129200-35130200	Enhancers	Aorta	Aorta
17	chr15:35129200-35130200	Enhancers	NH-A	brain
18	chr15:35129200-35130400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:35129200-35130400	Enhancers	NHLF	lung
20	chr15:35129200-35147600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:35129400-35129600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr15:35129400-35129600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:35129400-35129600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr15:35129400-35130000	Enhancers	A549	lung
25	chr15:35129400-35130200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:35129400-35130200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:35129400-35130200	Enhancers	NHDF-Ad	bronchial
28	chr15:35129400-35130400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:35129400-35130400	Enhancers	Osteobl	bone
30	chr15:35129400-35130800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:35129400-35132800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:35129600-35129800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr15:35129600-35130000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr15:35129600-35130200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:35129800-35130000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr15:35129800-35130400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:35130000-35130600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr15:35130000-35145600	Weak transcription	A549	lung
39	chr15:35130200-35130800	Weak transcription	Aorta	Aorta
40	chr15:35130200-35130800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr15:35130200-35131600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:35130200-35133000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:35130200-35133000	Weak transcription	NHDF-Ad	bronchial
44	chr15:35130200-35147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:35130400-35132800	Weak transcription	HSMM	muscle
46	chr15:35130400-35132800	Weak transcription	HSMMtube	muscle
47	chr15:35130400-35133000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:35130400-35133000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:35130400-35133000	Weak transcription	Osteobl	bone
50	chr15:35130400-35133200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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