Variant report

Variant	rs11209844
Chromosome Location	chr1:72255500-72255501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11209818	0.82[JPT][hapmap]
rs11209841	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs11209842	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11578097	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11584866	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1158573	1.00[ASW][hapmap];0.94[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap]
rs11588321	0.80[CHB][hapmap]
rs12023733	0.81[JPT][hapmap]
rs12024388	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12037107	0.82[JPT][hapmap]
rs12040327	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12048869	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12078969	0.82[CHB][hapmap]
rs1459801	0.85[EUR][1000 genomes]
rs1491198	0.82[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs17091704	0.82[JPT][hapmap]
rs1870523	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1870525	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2125775	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2125776	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2125777	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4649943	0.82[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4649945	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs4649947	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4649949	0.82[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs4649950	0.81[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs4650123	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs482060	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs531071	1.00[ASW][hapmap]
rs6424448	0.81[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs6697370	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6701156	0.82[CHB][hapmap]
rs7528030	0.82[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1007250	chr1:71998391-72350683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534992	chr1:71998391-72350683	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1003446	chr1:72060680-72419918	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1008210	chr1:72099161-72374197	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv830181	chr1:72155983-72296578	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv916783	chr1:72196061-72707953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1007910	chr1:72247302-72543998	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72240600-72256600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:72249600-72257000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:72251000-72256000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:72254000-72256400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:72254400-72256200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:72254800-72255600	Enhancers	Colon Smooth Muscle	Colon
7	chr1:72255000-72258000	Weak transcription	Rectal Smooth Muscle	rectum

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