Variant report

Variant	esv3379125
Chromosome Location	chr15:75794422-75797270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117168480	chr15:75794442-75794443	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527561245	chr15:75794448-75794449	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569201516	chr15:75794470-75794471	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182788615	chr15:75794495-75794496	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551617457	chr15:75794515-75794516	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567050294	chr15:75794579-75794580	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6495178	chr15:75794599-75794600	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs539482731	chr15:75794604-75794605	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs549664490	chr15:75794650-75794651	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs567971251	chr15:75794661-75794662	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs537398783	chr15:75794667-75794668	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs147082704	chr15:75794741-75794742	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs575139964	chr15:75794746-75794747	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs577610145	chr15:75794749-75794750	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs368527036	chr15:75794750-75794751	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs553604631	chr15:75794773-75794774	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567136128	chr15:75794775-75794776	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148329159	chr15:75794795-75794796	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs542422142	chr15:75794813-75794814	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs371937272	chr15:75794840-75794841	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560800695	chr15:75794841-75794842	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs187815043	chr15:75794846-75794847	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs368499992	chr15:75794869-75794870	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562884897	chr15:75794870-75794871	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs551777833	chr15:75794876-75794877	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs368564631	chr15:75794882-75794883	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs533200688	chr15:75794885-75794886	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs551825625	chr15:75794955-75794956	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs115711034	chr15:75795016-75795017	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138449573	chr15:75795026-75795027	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs371857660	chr15:75795098-75795099	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs549603110	chr15:75795127-75795128	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567908251	chr15:75795154-75795155	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs536283945	chr15:75795160-75795161	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs116506381	chr15:75795163-75795164	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs571191263	chr15:75795168-75795169	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs192486313	chr15:75795169-75795170	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112505891	chr15:75795177-75795178	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs376471056	chr15:75795217-75795218	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs184036316	chr15:75795240-75795241	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571809201	chr15:75795283-75795284	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs535987520	chr15:75795339-75795340	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs554333238	chr15:75795371-75795372	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs371578692	chr15:75795390-75795391	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs543679638	chr15:75795441-75795442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555836148	chr15:75795491-75795492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565055510	chr15:75795506-75795507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577936249	chr15:75795551-75795552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545083282	chr15:75795569-75795570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188792294	chr15:75795585-75795586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75749000-75797800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:75762200-75798000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr15:75762400-75797800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:75762400-75798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:75763800-75797800	Weak transcription	Brain Substantia Nigra	brain
6	chr15:75765600-75797800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:75766800-75798000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr15:75772000-75797800	Weak transcription	NHEK	skin
9	chr15:75772400-75797800	Weak transcription	Fetal Brain Male	brain
10	chr15:75772400-75797800	Weak transcription	Right Ventricle	heart
11	chr15:75772400-75797800	Weak transcription	Spleen	Spleen
12	chr15:75772400-75798000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:75775200-75795400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:75775200-75795400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr15:75775400-75795400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr15:75775800-75798000	Weak transcription	Fetal Heart	heart
17	chr15:75776000-75795400	Strong transcription	Fetal Stomach	stomach
18	chr15:75776200-75795400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:75777200-75816800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr15:75777600-75795400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:75777600-75812000	Weak transcription	Small Intestine	intestine
22	chr15:75778400-75795400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:75779000-75795000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:75779000-75795200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr15:75780200-75794600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:75780200-75797800	Weak transcription	Colonic Mucosa	Colon
27	chr15:75780200-75812200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:75780600-75797800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr15:75781000-75797800	Weak transcription	Pancreas	Pancrea
30	chr15:75782000-75794800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr15:75782000-75797800	Weak transcription	Left Ventricle	heart
32	chr15:75782600-75797800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:75782600-75797800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr15:75782600-75797800	Weak transcription	NHDF-Ad	bronchial
35	chr15:75782600-75815200	Weak transcription	K562	blood
36	chr15:75782800-75797800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:75782800-75797800	Weak transcription	Placenta	Placenta
38	chr15:75782800-75797800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr15:75782800-75797800	Weak transcription	GM12878-XiMat	blood
40	chr15:75783400-75797800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:75783400-75797800	Weak transcription	Aorta	Aorta
42	chr15:75785000-75797800	Weak transcription	NHLF	lung
43	chr15:75785000-75798000	Weak transcription	Hela-S3	cervix
44	chr15:75785200-75797800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr15:75785200-75797800	Weak transcription	Fetal Kidney	kidney
46	chr15:75785200-75798000	Weak transcription	NH-A	brain
47	chr15:75785400-75795000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:75785400-75797800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:75785400-75798000	Weak transcription	Primary T cells from cord blood	blood
50	chr15:75785600-75814200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links