Variant report

Variant	esv34041
Chromosome Location	chr15:33720726-33871487
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:33751077..33753937-chr15:33756239..33758312,2	K562	blood:
2	chr15:33828327..33830977-chr15:33831241..33833830,2	K562	blood:
3	chr15:33857269..33859324-chr15:33862505..33864558,2	K562	blood:
4	chr15:33870139..33872552-chr17:56728731..56731471,2	MCF-7	breast:
5	chr15:33751077..33753937-chr15:33756239..33758312,2	K562	blood:
6	chr15:33832654..33835580-chr15:33840205..33844028,3	K562	blood:
7	chr15:33832654..33835580-chr15:33840205..33844028,3	K562	blood:
8	chr15:33828327..33830977-chr15:33831241..33833830,2	K562	blood:
9	chr15:33857269..33859324-chr15:33862505..33864558,2	K562	blood:
10	chr15:33778958..33781584-chr15:33783377..33785698,2	K562	blood:
11	chr15:33778958..33781584-chr15:33783377..33785698,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHRM5-4	chr15:33791200-33791382	ucscGeneNc_uc001zjc_2

No data

Extended variants
information (count: 6316 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:6316 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2596230	chr15:33720726-33720727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545456500	chr15:33720748-33720749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190268770	chr15:33720767-33720768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79207733	chr15:33720798-33720799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17236056	chr15:33720854-33720855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs150326683	chr15:33720868-33720869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182202118	chr15:33720918-33720919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35077720	chr15:33720927-33720928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76974686	chr15:33720935-33720936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80053353	chr15:33720937-33720938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376192564	chr15:33721005-33721006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565852155	chr15:33721009-33721010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539660061	chr15:33721080-33721081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150603707	chr15:33721093-33721094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186760209	chr15:33721097-33721098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371111170	chr15:33721117-33721118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559215615	chr15:33721153-33721154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374506012	chr15:33721199-33721200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573952261	chr15:33721241-33721242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138004239	chr15:33721290-33721291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576290672	chr15:33721298-33721299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553264398	chr15:33721301-33721302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577949583	chr15:33721341-33721342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545172858	chr15:33721344-33721345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563589141	chr15:33721374-33721375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531427897	chr15:33721382-33721383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149482739	chr15:33721420-33721421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543616137	chr15:33721444-33721445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189767626	chr15:33721459-33721460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370400867	chr15:33721504-33721505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565088998	chr15:33721556-33721557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143886222	chr15:33721623-33721624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115661352	chr15:33721697-33721698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140656570	chr15:33721707-33721708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551591432	chr15:33721764-33721765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183135472	chr15:33721787-33721788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201130244	chr15:33721838-33721839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551494961	chr15:33721853-33721854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559976866	chr15:33721883-33721884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373571686	chr15:33721903-33721904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537504534	chr15:33721937-33721938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143329777	chr15:33721950-33721951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188776825	chr15:33721993-33721994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527311362	chr15:33722008-33722009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534691110	chr15:33722104-33722105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199657127	chr15:33722109-33722110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34966649	chr15:33722121-33722122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193024310	chr15:33722137-33722138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577916491	chr15:33722240-33722241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538990841	chr15:33722278-33722279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Hodgkin''s lymphoma	18641027	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33713600-33721000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:33717200-33733200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:33720400-33721400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:33721000-33722400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:33721000-33724600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:33721200-33722000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr15:33721400-33721800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr15:33721400-33723000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:33721800-33722000	Enhancers	Brain Germinal Matrix	brain
10	chr15:33723000-33724200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:33724400-33724600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:33730400-33730600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:33732400-33732600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:33732400-33738800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:33732600-33732800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:33732600-33732800	Enhancers	Aorta	Aorta
17	chr15:33732600-33733200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:33732600-33733200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:33732600-33733400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr15:33732600-33734000	Enhancers	Primary hematopoietic stem cells	blood
21	chr15:33732600-33739600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:33732800-33746600	Weak transcription	Aorta	Aorta
23	chr15:33733000-33733400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:33733000-33733600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
25	chr15:33733200-33733400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:33733200-33733400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:33733200-33733400	Enhancers	Brain Anterior Caudate	brain
28	chr15:33733200-33735800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:33733400-33734600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:33733400-33738600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:33733400-33740800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:33733400-33746000	Weak transcription	Brain Anterior Caudate	brain
33	chr15:33734000-33735000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr15:33735000-33735200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr15:33735000-33739200	Enhancers	Primary hematopoietic stem cells	blood
36	chr15:33735800-33736200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:33735800-33736200	Enhancers	NHEK	skin
38	chr15:33736200-33740800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:33736200-33740800	Weak transcription	NHEK	skin
40	chr15:33737800-33740200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:33738600-33739400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:33738800-33740800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:33739000-33739200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr15:33739000-33739400	Enhancers	Brain Angular Gyrus	brain
45	chr15:33739200-33742000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr15:33739400-33740600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:33739400-33740800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr15:33739600-33740000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:33740000-33743400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:33740200-33742200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links