Variant report

Variant	rs12616792
Chromosome Location	chr2:48493182-48493183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48492137..48494411-chr2:48542775..48545328,2	K562	blood:
2	chr2:48492280..48493854-chr2:48539785..48541732,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10153773	1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap]
rs10174717	0.83[ASN][1000 genomes]
rs10180295	0.89[ASN][1000 genomes]
rs10186237	1.00[CHB][hapmap];0.88[YRI][hapmap];0.88[ASN][1000 genomes]
rs10193072	0.89[ASN][1000 genomes]
rs10199431	1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[YRI][hapmap];0.82[ASN][1000 genomes]
rs10208124	0.85[ASN][1000 genomes]
rs11676168	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs11682044	1.00[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap];0.87[ASN][1000 genomes]
rs11685861	0.88[YRI][hapmap]
rs11690690	0.88[YRI][hapmap]
rs12713008	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13383364	0.86[ASN][1000 genomes]
rs13385535	0.83[ASN][1000 genomes]
rs13386751	0.96[ASN][1000 genomes]
rs13387171	0.85[ASN][1000 genomes]
rs13388291	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[ASN][1000 genomes]
rs13426834	0.96[ASN][1000 genomes]
rs13432998	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.83[ASN][1000 genomes]
rs2471403	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2471404	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2471405	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28806843	0.87[ASN][1000 genomes]
rs28841370	0.82[ASN][1000 genomes]
rs4290706	0.87[ASN][1000 genomes]
rs4411759	1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs4547573	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs4641990	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs56352447	0.83[ASN][1000 genomes]
rs58660534	0.81[ASN][1000 genomes]
rs59264464	0.81[ASN][1000 genomes]
rs59412192	0.81[ASN][1000 genomes]
rs59761994	0.81[ASN][1000 genomes]
rs60677957	0.84[ASN][1000 genomes]
rs62136987	0.81[ASN][1000 genomes]
rs62137001	0.81[ASN][1000 genomes]
rs62137002	0.81[ASN][1000 genomes]
rs62137003	0.81[ASN][1000 genomes]
rs62137005	0.81[ASN][1000 genomes]
rs62137006	0.82[ASN][1000 genomes]
rs62137007	0.82[ASN][1000 genomes]
rs62138801	0.88[ASN][1000 genomes]
rs6545026	0.88[YRI][hapmap]
rs6545027	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap];0.93[ASN][1000 genomes]
rs6545028	0.87[ASN][1000 genomes]
rs6545030	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[YRI][hapmap];0.81[ASN][1000 genomes]
rs6545034	0.80[ASN][1000 genomes]
rs6545035	0.80[ASN][1000 genomes]
rs6545036	0.92[YRI][hapmap]
rs6705802	0.92[YRI][hapmap]
rs6712029	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.88[YRI][hapmap];0.81[ASN][1000 genomes]
rs6757206	0.83[ASN][1000 genomes]
rs72818493	0.87[ASN][1000 genomes]
rs72820405	0.81[ASN][1000 genomes]
rs72887649	0.87[ASN][1000 genomes]
rs7340322	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7566239	0.92[YRI][hapmap]
rs7568960	0.97[ASN][1000 genomes]
rs7576964	0.81[CHD][hapmap];0.88[YRI][hapmap]
rs7577237	0.92[YRI][hapmap]
rs7579932	0.92[YRI][hapmap]
rs7600794	0.88[YRI][hapmap]
rs7606104	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48491200-48493200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:48491200-48494000	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:48491400-48493400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:48492000-48493600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:48492600-48493200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:48492600-48493200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr2:48493000-48496600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:48493000-48496600	Enhancers	K562	blood

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