Variant report

Variant	rs1443628
Chromosome Location	chr6:48531489-48531490
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10807395	0.86[EUR][1000 genomes]
rs1365720	0.86[EUR][1000 genomes]
rs1427156	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1573203	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs171452	0.84[EUR][1000 genomes]
rs1991355	0.86[EUR][1000 genomes]
rs1991356	0.86[EUR][1000 genomes]
rs2052800	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396872	0.82[ASN][1000 genomes]
rs2396874	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs243121	0.84[EUR][1000 genomes]
rs243123	0.84[EUR][1000 genomes]
rs243124	0.84[EUR][1000 genomes]
rs243127	0.84[EUR][1000 genomes]
rs243128	0.84[EUR][1000 genomes]
rs243129	0.84[EUR][1000 genomes]
rs243130	0.84[EUR][1000 genomes]
rs243134	0.84[EUR][1000 genomes]
rs243135	0.84[EUR][1000 genomes]
rs2912622	0.83[EUR][1000 genomes]
rs2912630	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2912634	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2996245	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2996251	0.85[EUR][1000 genomes]
rs3010522	0.86[EUR][1000 genomes]
rs3010523	0.86[EUR][1000 genomes]
rs3010527	0.85[EUR][1000 genomes]
rs3010531	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4501429	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6925069	0.86[EUR][1000 genomes]
rs6937487	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7750141	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9296599	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9296602	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9296603	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9369799	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs967600	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv603035	chr6:47902243-48700995	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv885877	chr6:48117685-48626930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv917050	chr6:48168742-48578496	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv830657	chr6:48387714-48566656	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv462942	chr6:48480264-48598199	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv885878	chr6:48481466-48623408	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv830658	chr6:48497904-48632523	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48528400-48532600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:48528600-48532400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:48531000-48535400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:48531200-48532000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:48531200-48532000	Enhancers	Fetal Kidney	kidney
6	chr6:48531200-48532200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:48531200-48532600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:48531200-48532600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:48531200-48533200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:48531200-48533600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:48531400-48531800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links