Variant report

Variant	rs4775809
Chromosome Location	chr15:49614081-49614082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49611218..49613140-chr15:49613508..49615931,2	K562	blood:

Variant related genes	Relation type
ENSG00000156958	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10467992	0.85[EUR][1000 genomes]
rs10851475	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11852825	0.88[ASN][1000 genomes]
rs1812926	0.87[EUR][1000 genomes]
rs1904314	0.96[EUR][1000 genomes]
rs2086256	0.84[EUR][1000 genomes]
rs2127241	0.86[EUR][1000 genomes]
rs2127242	0.86[EUR][1000 genomes]
rs2169932	0.85[EUR][1000 genomes]
rs2219812	0.87[EUR][1000 genomes]
rs4775805	0.85[EUR][1000 genomes]
rs4775807	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6493361	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6493363	0.85[EUR][1000 genomes]
rs7167555	0.83[EUR][1000 genomes]
rs7176455	0.86[EUR][1000 genomes]
rs735495	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs754165	0.87[EUR][1000 genomes]
rs754166	0.87[EUR][1000 genomes]
rs8025952	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8031480	0.96[ASN][1000 genomes]
rs8034661	0.85[EUR][1000 genomes]
rs8040075	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8040134	0.93[ASN][1000 genomes]
rs9806748	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039220	chr15:49492509-49644261	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4775809	GALK2	Cis_1M	lymphoblastoid	RTeQTL
rs4775809	COPS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49558000-49624400	Weak transcription	Esophagus	oesophagus
2	chr15:49562200-49626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:49566600-49623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:49573800-49622200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:49580600-49615600	Weak transcription	Fetal Brain Male	brain
6	chr15:49582600-49628200	Weak transcription	Spleen	Spleen
7	chr15:49586000-49617000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr15:49594000-49619400	Weak transcription	Stomach Mucosa	stomach
9	chr15:49596800-49620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:49597200-49622200	Weak transcription	NH-A	brain
11	chr15:49597200-49624800	Weak transcription	Fetal Kidney	kidney
12	chr15:49597400-49624200	Weak transcription	K562	blood
13	chr15:49599200-49636800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:49602400-49615400	Weak transcription	Fetal Heart	heart
15	chr15:49604000-49614200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:49606400-49622200	Weak transcription	HSMM	muscle
17	chr15:49607000-49622200	Weak transcription	NHDF-Ad	bronchial
18	chr15:49607200-49623800	Weak transcription	Psoas Muscle	Psoas
19	chr15:49607600-49624400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:49607800-49622200	Weak transcription	Brain Substantia Nigra	brain
21	chr15:49608000-49615200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:49608000-49615800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr15:49608000-49631800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:49608200-49615400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:49608400-49615600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:49608600-49615200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:49608600-49615600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr15:49608600-49615600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr15:49608600-49631800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:49609200-49615200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:49609200-49615800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr15:49609600-49621200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:49610200-49614200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr15:49610400-49622400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:49611000-49614200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:49611000-49614200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr15:49611000-49614200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:49611000-49614200	Strong transcription	Fetal Intestine Large	intestine
39	chr15:49611000-49614200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr15:49611000-49614400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:49611000-49614800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:49611000-49615200	Strong transcription	Left Ventricle	heart
43	chr15:49611000-49615800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:49611000-49615800	Strong transcription	Liver	Liver
45	chr15:49611000-49616000	Strong transcription	Primary T cells from cord blood	blood
46	chr15:49611000-49616200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr15:49611000-49616400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr15:49611200-49614200	Strong transcription	Aorta	Aorta
49	chr15:49611200-49614200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr15:49611200-49614800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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