Variant report

Variant	rs9483244
Chromosome Location	chr6:131615425-131615426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131591823..131594173-chr6:131613820..131615536,2	K562	blood:
2	chr6:131614360..131616508-chr6:131705803..131707677,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10484765	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12203075	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13211569	0.81[EUR][1000 genomes]
rs1358962	0.92[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1407532	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1407533	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1885640	0.89[CEU][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap]
rs2104209	0.89[EUR][1000 genomes]
rs2146827	0.93[ASN][1000 genomes]
rs3777478	0.89[CEU][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3777480	0.92[CEU][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs3777483	0.92[CEU][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3777494	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3822866	0.89[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3850238	0.86[JPT][hapmap]
rs4327722	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4343939	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4484548	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4897505	0.92[CEU][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61056763	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6569737	0.99[EUR][1000 genomes]
rs66827112	0.81[ASN][1000 genomes]
rs6922252	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6924196	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7744734	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7754788	0.86[JPT][hapmap]
rs7755640	0.92[CEU][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs7761587	0.92[CEU][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7768335	0.86[JPT][hapmap]
rs9398980	0.90[JPT][hapmap]
rs9483237	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9483239	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9483245	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9492886	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9492894	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9800458	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9800571	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv830808	chr6:131521115-131735320	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv886666	chr6:131573433-131666295	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9483244	SNORD101	cis	parietal	SCAN
rs9483244	TAAR9	cis	parietal	SCAN
rs9483244	TBPL1	cis	cerebellum	SCAN
rs9483244	TAAR1	cis	parietal	SCAN
rs9483244	VNN1	cis	cerebellum	SCAN
rs9483244	TAAR3	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131612200-131615600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr6:131612400-131616400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:131612800-131615600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:131612800-131616600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:131613000-131615600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr6:131613000-131615600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:131613000-131615600	Enhancers	Fetal Intestine Large	intestine
8	chr6:131613000-131615800	Enhancers	Fetal Intestine Small	intestine
9	chr6:131613000-131616400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:131614200-131616000	Enhancers	Stomach Mucosa	stomach
11	chr6:131614400-131615800	Enhancers	Gastric	stomach
12	chr6:131614800-131616200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:131614800-131616400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:131614800-131619000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:131614800-131620000	Weak transcription	Spleen	Spleen
16	chr6:131614800-131624800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:131615000-131615600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:131615000-131616200	Weak transcription	Pancreas	Pancrea
19	chr6:131615000-131616400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr6:131615000-131617000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:131615000-131620600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr6:131615000-131622400	Weak transcription	Lung	lung
23	chr6:131615000-131623800	Weak transcription	Primary T cells from cord blood	blood
24	chr6:131615000-131624400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:131615000-131626200	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:131615400-131615600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr6:131615400-131615600	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr6:131615400-131615600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:131615400-131615600	Flanking Bivalent TSS/Enh	HepG2	liver
30	chr6:131615400-131616200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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