Variant report

Variant	rs13005588
Chromosome Location	chr2:188088232-188088233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188088219..188089827-chr2:188091606..188093417,2	K562	blood:
2	chr2:188082290..188085324-chr2:188088101..188090494,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10931272	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11894779	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11902984	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12465733	0.83[AMR][1000 genomes]
rs12466243	0.81[AFR][1000 genomes]
rs12469871	0.81[AMR][1000 genomes]
rs12471570	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12474804	0.81[AFR][1000 genomes]
rs12477604	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12616398	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13000137	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13024632	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16828625	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16828937	0.81[AFR][1000 genomes]
rs2370734	0.81[AMR][1000 genomes]
rs2370737	0.83[AMR][1000 genomes]
rs2887838	0.85[AMR][1000 genomes]
rs34460383	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35252928	0.85[AMR][1000 genomes]
rs35995403	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3821181	0.81[AFR][1000 genomes]
rs3821182	0.81[AFR][1000 genomes]
rs56121767	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67231021	0.81[AFR][1000 genomes]
rs6733991	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72904956	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72910639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601082	0.81[AFR][1000 genomes]
rs9646746	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv431857	chr2:187930023-188098798	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875555	chr2:188023107-188143677	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2751839	chr2:188035947-188141690	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763652	chr2:188042583-188153257	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1004711	chr2:188044247-188142073	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv997699	chr2:188052351-188142073	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv584032	chr2:188083217-188150228	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv875556	chr2:188083300-188135654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188087200-188089800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr2:188087600-188088800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr2:188088000-188091400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr2:188088200-188089000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr2:188088200-188092200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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