Variant report

Variant	rs7419804
Chromosome Location	chr2:127728054-127728055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10168813	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10803617	0.94[ASN][1000 genomes]
rs10803618	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12053575	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12620265	0.88[ASN][1000 genomes]
rs12692123	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12993596	0.93[EUR][1000 genomes]
rs12999613	0.97[EUR][1000 genomes]
rs13010625	0.90[EUR][1000 genomes]
rs13028314	0.97[EUR][1000 genomes]
rs13031759	0.94[EUR][1000 genomes]
rs13032403	0.94[EUR][1000 genomes]
rs1553844	0.84[ASN][1000 genomes]
rs1553845	0.90[ASN][1000 genomes]
rs1912498	0.94[ASN][1000 genomes]
rs28758224	0.96[ASN][1000 genomes]
rs34167893	0.97[EUR][1000 genomes]
rs34340556	0.94[EUR][1000 genomes]
rs34840409	0.97[EUR][1000 genomes]
rs34840927	0.97[EUR][1000 genomes]
rs35002098	0.97[EUR][1000 genomes]
rs35143983	0.90[EUR][1000 genomes]
rs35580772	0.94[EUR][1000 genomes]
rs35686520	0.97[EUR][1000 genomes]
rs36076731	0.97[EUR][1000 genomes]
rs4662692	0.90[ASN][1000 genomes]
rs4662695	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662696	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662697	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4662698	0.88[ASN][1000 genomes]
rs4662699	0.88[ASN][1000 genomes]
rs4663070	0.88[ASN][1000 genomes]
rs4663075	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663076	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663077	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663079	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663080	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663081	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663082	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663083	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55962144	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56086835	0.89[EUR][1000 genomes]
rs60133364	0.94[EUR][1000 genomes]
rs60292917	0.94[EUR][1000 genomes]
rs61633215	0.82[ASN][1000 genomes]
rs6431201	0.88[ASN][1000 genomes]
rs6431206	0.94[ASN][1000 genomes]
rs6431207	0.94[ASN][1000 genomes]
rs6431208	0.94[ASN][1000 genomes]
rs6431209	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431210	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431211	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6431212	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67141267	0.90[EUR][1000 genomes]
rs6732056	0.94[ASN][1000 genomes]
rs6736826	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6749935	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753685	0.88[ASN][1000 genomes]
rs72976756	0.84[ASN][1000 genomes]
rs72980845	0.82[ASN][1000 genomes]
rs73952788	0.86[ASN][1000 genomes]
rs73952789	0.88[ASN][1000 genomes]
rs7420039	0.90[ASN][1000 genomes]
rs7423317	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7424763	0.94[ASN][1000 genomes]
rs7556956	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557069	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565248	0.90[ASN][1000 genomes]
rs7590060	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs870468	0.84[ASN][1000 genomes]
rs9967839	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats 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
6	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:127726600-127728200	Enhancers	Fetal Muscle Leg	muscle
2	chr2:127727200-127728600	Enhancers	Fetal Muscle Trunk	muscle
3	chr2:127727400-127729000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:127727400-127729200	Enhancers	HSMMtube	muscle
5	chr2:127727800-127728400	Enhancers	Fetal Brain Female	brain
6	chr2:127727800-127728600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:127727800-127728800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:127727800-127728800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr2:127727800-127729400	Bivalent Enhancer	Fetal Stomach	stomach
10	chr2:127727800-127730600	Enhancers	Fetal Brain Male	brain
11	chr2:127728000-127728200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:127728000-127728400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:127728000-127728400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:127728000-127728800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:127728000-127728800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr2:127728000-127729000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:127728000-127729000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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