Variant report

Variant	rs12119469
Chromosome Location	chr1:95549438-95549439
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:95549239..95551783-chr1:95557722..95560296,2	K562	blood:
2	chr1:95544414..95547978-chr1:95549348..95553409,4	K562	blood:
3	chr1:95538304..95542687-chr1:95547314..95551412,4	K562	blood:
4	chr1:95548633..95550280-chr1:95551848..95554407,2	K562	blood:
5	chr1:95548534..95550560-chr1:95561242..95563243,2	K562	blood:
6	chr1:95537906..95540318-chr1:95548748..95550282,2	MCF-7	breast:
7	chr1:95543478..95545914-chr1:95548996..95550848,2	K562	blood:
8	chr1:95545358..95548450-chr1:95548611..95551467,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172339	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11165283	0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs11165284	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12119383	0.85[AMR][1000 genomes]
rs12119701	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12121738	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12123807	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12124097	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12124647	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12126245	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12129274	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12137333	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12139069	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141083	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12142619	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17112852	0.88[CHB][hapmap]
rs4245669	0.84[ASN][1000 genomes]
rs4847374	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4847375	0.86[ASN][1000 genomes]
rs4847376	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs58602136	0.86[ASN][1000 genomes]
rs61772641	0.86[ASN][1000 genomes]
rs71483843	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7527765	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7532763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7551281	1.00[EUR][1000 genomes]
rs9787257	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9787343	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95542000-95549600	Weak transcription	HepG2	liver
2	chr1:95546400-95550600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:95546600-95550400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:95546600-95552000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:95546800-95550400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:95546800-95550400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:95546800-95550600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:95549000-95549800	Enhancers	K562	blood
9	chr1:95549000-95551200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:95549200-95549800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:95549200-95550400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:95549200-95552400	Enhancers	A549	lung
13	chr1:95549200-95554200	Enhancers	Fetal Heart	heart
14	chr1:95549400-95550800	Enhancers	Rectal Mucosa Donor 29	rectum

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