Variant report

Variant	esv3346269
Chromosome Location	chr15:44149694-44150467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:44150349-44150437	Kidney_OC	kidney:	n/a	n/a

Variant related genes	Relation type
WDR76	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201371275	chr15:44149695-44149696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572129329	chr15:44149702-44149703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534203691	chr15:44149792-44149793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150440057	chr15:44149793-44149794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138354922	chr15:44149854-44149855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540032316	chr15:44149863-44149864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556766508	chr15:44149881-44149882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576566343	chr15:44149916-44149917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8025924	chr15:44149940-44149941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541870188	chr15:44150011-44150012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561645341	chr15:44150102-44150103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192974116	chr15:44150108-44150109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542773759	chr15:44150112-44150113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35873566	chr15:44150135-44150136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34568506	chr15:44150139-44150140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529908326	chr15:44150160-44150161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397854561	chr15:44150162-44150163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1975364	chr15:44150189-44150190	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs559281629	chr15:44150195-44150196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533103198	chr15:44150199-44150200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549667365	chr15:44150219-44150220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563455616	chr15:44150375-44150376	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs184294718	chr15:44150380-44150381	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs146313280	chr15:44150394-44150395	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs189626320	chr15:44150413-44150414	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs5812252	chr15:44150442-44150443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139367259	chr15:44150450-44150451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547850101	chr15:44150459-44150460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1965794	chr15:44150466-44150467	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Mental retardation	17124404	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44117400-44150200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:44119600-44150600	Weak transcription	Esophagus	oesophagus
3	chr15:44119600-44151000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:44119600-44156400	Weak transcription	Pancreas	Pancrea
5	chr15:44119600-44166000	Weak transcription	Spleen	Spleen
6	chr15:44119600-44169400	Weak transcription	Fetal Intestine Large	intestine
7	chr15:44119600-44172800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
9	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:44119800-44166400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:44120200-44150800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:44120600-44150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:44120600-44150800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:44120600-44156600	Weak transcription	Fetal Brain Male	brain
15	chr15:44120600-44157800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:44120600-44158600	Weak transcription	Colonic Mucosa	Colon
17	chr15:44120600-44159600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr15:44120600-44161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:44120600-44164600	Weak transcription	Brain Hippocampus Middle	brain
20	chr15:44120600-44164600	Weak transcription	NHEK	skin
21	chr15:44120600-44165800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:44121000-44177600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:44121400-44159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr15:44121400-44160600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:44121600-44150800	Weak transcription	Fetal Heart	heart
26	chr15:44121600-44151200	Weak transcription	NHLF	lung
27	chr15:44122000-44157000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr15:44124000-44166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:44124600-44150800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:44128200-44151800	Weak transcription	Fetal Lung	lung
31	chr15:44128200-44151800	Weak transcription	Left Ventricle	heart
32	chr15:44128200-44167800	Weak transcription	Ovary	ovary
33	chr15:44128400-44150800	Weak transcription	Adipose Nuclei	Adipose
34	chr15:44128600-44167800	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:44129200-44161200	Weak transcription	Brain Substantia Nigra	brain
36	chr15:44129800-44150800	Weak transcription	Primary B cells from cord blood	blood
37	chr15:44131200-44167600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:44133000-44166000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:44135400-44157800	Weak transcription	Fetal Kidney	kidney
40	chr15:44135600-44150800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:44136800-44152200	Weak transcription	Lung	lung
42	chr15:44137800-44149800	Strong transcription	Dnd41	blood
43	chr15:44137800-44160200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:44142200-44163800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr15:44142200-44164600	Weak transcription	Brain Angular Gyrus	brain
46	chr15:44142800-44154000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr15:44142800-44154000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:44142800-44156800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:44143000-44154200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:44143200-44154000	Strong transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links