Variant report

Variant	rs7011182
Chromosome Location	chr8:20209328-20209329
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20204664..20206937-chr8:20209022..20211953,2	K562	blood:

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

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

rs_ID	r²[population]
rs1016646	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10503679	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12678670	0.86[EUR][1000 genomes]
rs12680152	0.85[EUR][1000 genomes]
rs17092258	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17092305	0.86[EUR][1000 genomes]
rs17412582	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17412623	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17412734	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17412740	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17412929	0.94[EUR][1000 genomes]
rs17490756	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17490805	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17490847	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17490895	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17491153	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2086886	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35673104	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4601325	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4921708	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4921711	0.86[EUR][1000 genomes]
rs4921713	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4922159	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4922160	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4922161	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4922175	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4922177	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4922178	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4922179	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4922180	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4922182	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4922183	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4922187	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4922189	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55638716	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55700547	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55724720	0.94[EUR][1000 genomes]
rs55968150	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56098307	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56137757	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56157706	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56171374	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6586910	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs985577	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs985578	0.93[AMR][1000 genomes];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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20206400-20209800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:20206800-20213400	Weak transcription	Right Atrium	heart
3	chr8:20208000-20210400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
4	chr8:20208000-20210400	Weak transcription	Fetal Brain Female	brain
5	chr8:20208200-20210200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:20208200-20210400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:20208400-20215600	Weak transcription	Fetal Brain Male	brain
8	chr8:20209000-20210000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:20209000-20210400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr8:20209000-20210400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr8:20209000-20211000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr8:20209200-20209400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
13	chr8:20209200-20210400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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