Variant report

Variant	rs9437813
Chromosome Location	chr1:95549913-95549914
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr1:95549452..95551789-chr1:95607274..95610071,2	K562	blood:
6	chr1:95548534..95550560-chr1:95561242..95563243,2	K562	blood:
7	chr1:95537906..95540318-chr1:95548748..95550282,2	MCF-7	breast:
8	chr1:95543478..95545914-chr1:95548996..95550848,2	K562	blood:
9	chr1:95545358..95548450-chr1:95548611..95551467,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172339	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10493880	0.80[AMR][1000 genomes]
rs10735790	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10782996	0.88[ASN][1000 genomes]
rs10874902	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11165299	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11585462	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11591183	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563592	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12569038	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741128	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12748237	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12751774	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2391388	0.87[ASN][1000 genomes]
rs2391389	0.87[ASN][1000 genomes]
rs2766010	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2766011	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2797622	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2893274	0.81[ASN][1000 genomes]
rs34280926	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35678413	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35888232	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259714	0.85[ASN][1000 genomes]
rs4309032	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339907	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4390223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4630159	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847220	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4949965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950056	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4950057	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4950058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950083	0.80[ASN][1000 genomes]
rs61774262	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6675668	0.94[ASN][1000 genomes]
rs6683112	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6687388	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6687450	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6698046	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7537374	0.86[ASN][1000 genomes]
rs7539139	0.87[ASN][1000 genomes]
rs9437665	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9437672	0.98[ASN][1000 genomes]
rs9437689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9437810	0.98[ASN][1000 genomes]
rs9437812	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9661031	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95546400-95550600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:95546600-95550400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:95546600-95552000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:95546800-95550400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:95546800-95550400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:95546800-95550600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:95549000-95551200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:95549200-95550400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:95549200-95552400	Enhancers	A549	lung
10	chr1:95549200-95554200	Enhancers	Fetal Heart	heart
11	chr1:95549400-95550800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr1:95549600-95552600	Enhancers	HepG2	liver
13	chr1:95549800-95550600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:95549800-95551200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:95549800-95551200	Enhancers	Psoas Muscle	Psoas
16	chr1:95549800-95552000	Flanking Active TSS	K562	blood
17	chr1:95549800-95553000	Enhancers	HUES6 Cell Line	embryonic stem cell

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