Variant report

Variant	rs2246084
Chromosome Location	chr1:69709710-69709711
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2243406	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243482	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2243513	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2245205	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2245305	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2245318	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2245330	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2246059	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2246060	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2246312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246316	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246327	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2248308	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2248437	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2248671	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2248775	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2249355	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2249379	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2249479	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2612233	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2612234	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2612235	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2612236	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2612238	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2612239	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2791209	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2791210	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2815431	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2815434	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3753694	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4146494	0.90[ASN][1000 genomes]
rs4265389	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830115	chr1:69593494-69736995	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1299	chr1:69687227-69732225	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1840142	chr1:69692232-69728843	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69708200-69710800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:69709200-69709800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
3	chr1:69709200-69710000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:69709200-69710200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:69709200-69710600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:69709200-69712400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr1:69709400-69709800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:69709400-69710000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:69709400-69710600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:69709400-69711000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:69709600-69710200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:69709600-69710200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:69709600-69711000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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