Variant report

Variant	rs3749005
Chromosome Location	chr2:168115325-168115326
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	chr2:168114351..168116891-chr2:168133743..168135416,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10497322	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10497324	0.88[EUR][1000 genomes]
rs12622076	0.86[EUR][1000 genomes]
rs1564385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16853195	0.83[TSI][hapmap]
rs16853307	1.00[ASW][hapmap];0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16853313	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16853367	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853396	0.83[AFR][1000 genomes]
rs16853424	0.86[AFR][1000 genomes]
rs57877625	0.86[EUR][1000 genomes]
rs58178589	0.97[EUR][1000 genomes]
rs58432165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61335281	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61607968	0.88[EUR][1000 genomes]
rs61748633	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73012071	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73012082	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73012092	0.88[EUR][1000 genomes]
rs73012102	0.88[EUR][1000 genomes]
rs73015852	0.80[AFR][1000 genomes]
rs73015860	0.80[AFR][1000 genomes]
rs73029719	0.91[EUR][1000 genomes]
rs73029720	0.80[EUR][1000 genomes]
rs73029727	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73029736	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73029754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583591	chr2:168037489-168132892	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv979347	chr2:168092753-168141678	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr2:168100200-168115600	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:168104000-168122200	Weak transcription	Left Ventricle	heart
3	chr2:168113400-168115800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:168113400-168115800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:168113400-168116000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:168113400-168116000	Strong transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:168113400-168116200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:168113600-168116400	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:168114000-168115400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:168114000-168118000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:168114800-168116200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:168115000-168115400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:168115000-168116000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:168115000-168116000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:168115200-168116000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:168115200-168116000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:168115200-168117000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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