Variant report

Variant	rs72994322
Chromosome Location	chr6:131035572-131035573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10485095	1.00[AFR][1000 genomes]
rs17059344	1.00[AFR][1000 genomes]
rs17059420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17059453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17059490	1.00[AFR][1000 genomes]
rs17059520	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17059525	1.00[EUR][1000 genomes]
rs2221651	0.92[ASN][1000 genomes]
rs4144215	1.00[AFR][1000 genomes]
rs55925405	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56116438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56275069	1.00[AFR][1000 genomes]
rs56684748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56725541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56771583	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60789680	1.00[AFR][1000 genomes]
rs72499767	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72988292	1.00[AFR][1000 genomes]
rs72988295	1.00[AFR][1000 genomes]
rs72990208	1.00[AFR][1000 genomes]
rs72990221	1.00[AFR][1000 genomes]
rs72990296	1.00[AFR][1000 genomes]
rs72990301	1.00[AFR][1000 genomes]
rs72992209	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72992224	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72992225	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72992244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72992295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72992299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72994307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72994310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72994328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72996247	1.00[AFR][1000 genomes]
rs72996254	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72996263	1.00[EUR][1000 genomes]
rs72996267	1.00[AFR][1000 genomes]
rs72996271	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72996290	1.00[EUR][1000 genomes]
rs72996293	1.00[EUR][1000 genomes]

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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv604664	chr6:131004998-131115817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131030000-131037200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:131032000-131035600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:131032200-131035800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:131033200-131036800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:131033600-131035600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:131034600-131036800	Enhancers	Fetal Stomach	stomach
7	chr6:131034800-131035800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:131034800-131036800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:131035200-131036200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:131035200-131036400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:131035200-131037600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:131035400-131036400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:131035400-131036400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:131035400-131037800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:131035400-131038000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:131035400-131038000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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