Variant report

Variant	rs6049194
Chromosome Location	chr20:23847706-23847707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs3901412	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4416287	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4465841	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4514952	0.86[ASN][1000 genomes]
rs4524182	1.00[ASN][1000 genomes]
rs4553886	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4630828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4815238	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4815239	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4815241	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6076137	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6076139	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6076150	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6076151	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6076153	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6076154	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6076155	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6076156	1.00[ASN][1000 genomes]
rs6083277	0.85[EUR][1000 genomes]
rs6083280	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6083281	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6083285	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6083286	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6083305	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6083306	0.89[ASN][1000 genomes]
rs6083309	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6083310	0.97[ASN][1000 genomes]
rs6083312	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6106734	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6106740	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7269811	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv3336	chr20:23804081-23848943	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv833944	chr20:23806288-24021865	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv585730	chr20:23809681-23862844	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23847000-23847800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23847000-23848200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr20:23847000-23848200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:23847000-23848400	Enhancers	Fetal Thymus	thymus
5	chr20:23847000-23848800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr20:23847000-23848800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr20:23847000-23849200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr20:23847000-23852400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr20:23847200-23848800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr20:23847200-23849800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr20:23847400-23848000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr20:23847400-23848200	Enhancers	Dnd41	blood
13	chr20:23847400-23849600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr20:23847600-23847800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr20:23847600-23848000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr20:23847600-23848200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr20:23847600-23848200	Enhancers	Thymus	Thymus
18	chr20:23847600-23848600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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