Variant report

Variant	rs4711782
Chromosome Location	chr6:44363230-44363231
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44362914..44365374-chr6:44494792..44497518,2	K562	blood:
2	chr6:44356285..44358292-chr6:44361831..44365473,3	K562	blood:
3	chr6:44354712..44356273-chr6:44362969..44365442,2	K562	blood:
4	chr6:44355391..44357263-chr6:44358949..44363275,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000096401	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10948136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571946	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11571962	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12527053	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12527726	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12527984	0.81[MEX][hapmap];0.85[AMR][1000 genomes]
rs12528170	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16871831	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs16871832	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs16871837	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1999371	0.85[AMR][1000 genomes]
rs3757288	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4413612	1.00[ASW][hapmap];0.81[MEX][hapmap]
rs4714781	1.00[ASW][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs4714787	0.85[AMR][1000 genomes]
rs72866289	0.85[AMR][1000 genomes]
rs72867824	0.81[ASN][1000 genomes]
rs9369482	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4711782	PRELP	trans	brain	seeQTL
rs4711782	KLF2	trans	brain	seeQTL
rs4711782	FOXC1	trans	brain	seeQTL
rs4711782	ECEL1	trans	brain	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44356400-44364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:44356400-44393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:44357200-44376200	Weak transcription	Stomach Mucosa	stomach
4	chr6:44357400-44364400	Weak transcription	Right Atrium	heart
5	chr6:44357400-44367000	Strong transcription	HSMM	muscle
6	chr6:44357400-44367200	Strong transcription	Fetal Muscle Leg	muscle
7	chr6:44357600-44370200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:44357600-44377600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:44357600-44383200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:44357600-44388200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:44357800-44367000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr6:44357800-44367200	Strong transcription	Placenta	Placenta
13	chr6:44357800-44378200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:44358000-44364600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr6:44358000-44366200	Strong transcription	NH-A	brain
16	chr6:44358000-44366800	Strong transcription	HMEC	breast
17	chr6:44358000-44367400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:44358000-44369200	Strong transcription	Osteobl	bone
19	chr6:44358000-44384800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:44358000-44385600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:44358000-44385600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:44358000-44385800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr6:44358000-44386000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:44358200-44364200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:44358200-44364600	Strong transcription	Fetal Intestine Large	intestine
26	chr6:44358200-44369200	Strong transcription	Hela-S3	cervix
27	chr6:44358200-44378000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr6:44358200-44381800	Strong transcription	Fetal Thymus	thymus
29	chr6:44358200-44385600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr6:44358400-44363400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:44358400-44364200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr6:44358400-44364200	Weak transcription	Small Intestine	intestine
33	chr6:44358400-44364400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:44358400-44364400	Weak transcription	Fetal Heart	heart
35	chr6:44358400-44367600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:44358400-44368400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:44358400-44368400	Strong transcription	Adipose Nuclei	Adipose
38	chr6:44358400-44378400	Strong transcription	K562	blood
39	chr6:44358400-44385200	Strong transcription	Dnd41	blood
40	chr6:44358400-44386000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:44358400-44403800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:44358600-44367200	Strong transcription	Thymus	Thymus
43	chr6:44358600-44369200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr6:44358600-44378600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:44358600-44381800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:44358800-44366400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:44358800-44367000	Strong transcription	Lung	lung
48	chr6:44358800-44369400	Strong transcription	Fetal Stomach	stomach
49	chr6:44358800-44385600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:44359000-44364000	Strong transcription	Fetal Intestine Small	intestine

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