Variant report

Variant	rs10195657
Chromosome Location	chr2:54580409-54580410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54578951..54582305-chr2:54585861..54589772,4	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10168899	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10177706	1.00[AMR][1000 genomes]
rs10182439	1.00[AMR][1000 genomes]
rs10184091	1.00[AMR][1000 genomes]
rs10184388	1.00[AMR][1000 genomes]
rs10190817	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10192536	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10192849	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10193885	1.00[AMR][1000 genomes]
rs10195165	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196054	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs10206181	1.00[AMR][1000 genomes]
rs10206939	1.00[AMR][1000 genomes]
rs10207434	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10207830	1.00[AMR][1000 genomes]
rs10209379	1.00[AMR][1000 genomes]
rs10210249	1.00[AMR][1000 genomes]
rs11125530	1.00[AMR][1000 genomes]
rs13383434	1.00[AMR][1000 genomes]
rs13386127	1.00[AMR][1000 genomes]
rs13386211	1.00[AMR][1000 genomes]
rs13386287	0.85[YRI][hapmap]
rs13389240	1.00[AMR][1000 genomes]
rs13390991	1.00[AMR][1000 genomes]
rs13392879	1.00[AMR][1000 genomes]
rs13392982	1.00[AMR][1000 genomes]
rs13393792	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs13396310	1.00[AMR][1000 genomes]
rs13396318	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs13404835	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13407955	1.00[AMR][1000 genomes]
rs13410757	1.00[AMR][1000 genomes]
rs13411424	1.00[AMR][1000 genomes]
rs13411458	1.00[AMR][1000 genomes]
rs13415033	1.00[AMR][1000 genomes]
rs13415558	1.00[AMR][1000 genomes]
rs13419158	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs13423383	1.00[AMR][1000 genomes]
rs13423617	1.00[AMR][1000 genomes]
rs13425423	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs13431239	1.00[AMR][1000 genomes]
rs28607569	1.00[AMR][1000 genomes]
rs28698214	1.00[AMR][1000 genomes]
rs9808395	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1004632	chr2:54469283-54590480	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54569400-54587200	Weak transcription	Fetal Brain Male	brain
2	chr2:54577000-54580600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:54578800-54583400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:54580000-54580800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:54580000-54580800	Enhancers	Colon Smooth Muscle	Colon
6	chr2:54580000-54581400	Enhancers	Fetal Heart	heart
7	chr2:54580200-54580800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:54580200-54581000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:54580200-54581000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:54580200-54581000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:54580200-54581200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:54580400-54580600	Enhancers	Right Ventricle	heart
13	chr2:54580400-54580800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:54580400-54581000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr2:54580400-54581000	Enhancers	Placenta Amnion	Placenta Amnion

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