Variant report

Variant	rs7538348
Chromosome Location	chr1:222163036-222163037
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	chr1:221889093..221891683-chr1:222160866..222163448,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10863674	0.92[EUR][1000 genomes]
rs11118911	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11118921	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118922	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118923	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118924	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11118925	0.95[EUR][1000 genomes]
rs11118929	0.85[EUR][1000 genomes]
rs12070612	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12082069	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12083686	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12090915	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403104	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17441981	0.95[EUR][1000 genomes]
rs17442148	0.91[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs17495034	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2225999	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs34601597	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34736719	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4291507	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4565720	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59826275	0.85[ASN][1000 genomes]
rs61823898	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6686477	0.82[CEU][hapmap]
rs7517045	0.84[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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222146200-222163800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:222153200-222163800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:222156600-222166000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:222159600-222169400	Enhancers	HMEC	breast
5	chr1:222160400-222165400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:222160400-222165800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:222161000-222165200	Enhancers	NHLF	lung
8	chr1:222161000-222165400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:222161200-222163800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:222161400-222163800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:222161600-222164400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:222161600-222167000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:222161800-222163200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:222161800-222163200	Weak transcription	Hela-S3	cervix
15	chr1:222161800-222164200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:222162000-222163200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:222162000-222163400	Weak transcription	NHDF-Ad	bronchial
18	chr1:222162000-222163600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:222162000-222163800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:222162000-222164400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:222162000-222164400	Weak transcription	NH-A	brain
22	chr1:222162000-222167600	Weak transcription	Brain Substantia Nigra	brain
23	chr1:222162200-222163800	Weak transcription	NHEK	skin
24	chr1:222162200-222165600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:222162400-222163800	Weak transcription	K562	blood
26	chr1:222162600-222166200	Enhancers	Osteobl	bone
27	chr1:222162800-222163600	Weak transcription	HSMMtube	muscle
28	chr1:222162800-222165000	Enhancers	Stomach Smooth Muscle	stomach
29	chr1:222162800-222166000	Enhancers	HSMM	muscle
30	chr1:222163000-222163800	Enhancers	GM12878-XiMat	blood
31	chr1:222163000-222165400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:222163000-222165600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links