Variant report

Variant	rs3731843
Chromosome Location	chr2:38749920-38749921
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38749021..38751091-chr2:38805998..38807763,2	K562	blood:
2	chr2:38749544..38751613-chr2:38963489..38965052,2	K562	blood:
3	chr2:38747817..38750045-chr2:38750359..38752178,2	K562	blood:
4	chr2:38748763..38750578-chr2:38752263..38755021,2	K562	blood:
5	chr2:38748674..38751613-chr2:38962125..38964989,2	K562	blood:
6	chr2:38741140..38745477-chr2:38746945..38750612,4	K562	blood:

Variant related genes	Relation type
ENSG00000231367	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12105827	0.89[ASN][1000 genomes]
rs12622497	0.81[CEU][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs12622526	0.88[EUR][1000 genomes]
rs12993657	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13003268	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13004207	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13008970	0.97[ASN][1000 genomes]
rs13011825	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13017981	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13033060	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13382384	0.87[EUR][1000 genomes]
rs13383838	0.87[EUR][1000 genomes]
rs1540436	0.89[JPT][hapmap]
rs17421378	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs17421399	0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs17493321	0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs17493370	0.82[JPT][hapmap]
rs17493419	0.82[JPT][hapmap]
rs17493538	0.81[CHD][hapmap]
rs34171322	0.86[ASN][1000 genomes]
rs34218951	0.85[ASN][1000 genomes]
rs34311924	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34355269	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34655983	0.96[ASN][1000 genomes]
rs35066504	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35120096	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35275207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35299812	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35704960	0.96[ASN][1000 genomes]
rs35789272	0.96[ASN][1000 genomes]
rs35803605	0.85[ASN][1000 genomes]
rs59239099	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6544170	0.81[CHD][hapmap]
rs72795132	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7574556	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs7584009	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7592090	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7603200	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7606253	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7606376	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs934394	0.81[JPT][hapmap]
rs934395	0.82[JPT][hapmap]

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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38743000-38750000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:38743200-38750000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:38743200-38750400	Weak transcription	Aorta	Aorta
4	chr2:38744800-38751600	Weak transcription	Adipose Nuclei	Adipose
5	chr2:38745000-38750000	Weak transcription	K562	blood
6	chr2:38745000-38753400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:38749400-38750000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:38749400-38750000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:38749600-38751000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:38749600-38751600	Weak transcription	Ovary	ovary
11	chr2:38749800-38752200	Enhancers	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links