Variant report

Variant	rs16847948
Chromosome Location	chr1:227736629-227736630
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	chr1:227733965..227736657-chr1:227743143..227745274,2	K562	blood:
2	chr1:227735428..227737258-chr1:227773777..227776402,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12563117	1.00[EUR][1000 genomes]
rs12563564	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564736	1.00[EUR][1000 genomes]
rs12564917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565099	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12565618	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565653	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567084	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567934	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1323021	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13373816	1.00[EUR][1000 genomes]
rs16841323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847912	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847929	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848026	1.00[EUR][1000 genomes]
rs16848044	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16859962	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860227	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492440	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2313220	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34984248	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35703429	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462138	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58961542	0.94[ASN][1000 genomes]
rs59461077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665512	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090936	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090937	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090938	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090954	1.00[ASN][1000 genomes]
rs73090985	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090986	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090994	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73091000	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092610	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533013	0.87[ASN][1000 genomes]
rs7546845	0.87[ASN][1000 genomes]
rs7554851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554870	1.00[ASN][1000 genomes]
rs996226	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv947520	chr1:227724042-227750192	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv947560	chr1:227726600-227750192	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227731000-227748400	Weak transcription	Right Atrium	heart
2	chr1:227731200-227739000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:227734600-227738600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:227735200-227737000	Enhancers	Rectal Mucosa Donor 29	rectum

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