Variant report

Variant	rs7340322
Chromosome Location	chr2:48504901-48504902
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48502226..48505078-chr2:48564025..48566160,2	K562	blood:
2	chr2:48475464..48477949-chr2:48504616..48506328,2	K562	blood:
3	chr2:48496645..48499568-chr2:48504807..48506955,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10153773	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs10174717	0.84[ASN][1000 genomes]
rs10180295	0.90[ASN][1000 genomes]
rs10186237	1.00[CHB][hapmap];0.85[YRI][hapmap];0.89[ASN][1000 genomes]
rs10193072	0.90[ASN][1000 genomes]
rs10199431	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs10208124	0.85[ASN][1000 genomes]
rs11676168	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs11682044	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap];0.88[ASN][1000 genomes]
rs11685861	0.88[YRI][hapmap]
rs11690690	0.89[YRI][hapmap]
rs12616792	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12713008	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13383364	0.87[ASN][1000 genomes]
rs13385535	0.84[ASN][1000 genomes]
rs13386751	0.97[ASN][1000 genomes]
rs13387171	0.86[ASN][1000 genomes]
rs13388291	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs13426834	0.97[ASN][1000 genomes]
rs13432998	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2471403	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2471404	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2471405	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28806843	0.87[ASN][1000 genomes]
rs28841370	0.83[ASN][1000 genomes]
rs4290706	0.88[ASN][1000 genomes]
rs4411759	1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs4547573	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.85[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	0.82[ASN][1000 genomes]
rs59412192	0.82[ASN][1000 genomes]
rs59761994	0.81[ASN][1000 genomes]
rs60677957	0.85[ASN][1000 genomes]
rs62136987	0.82[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	0.83[ASN][1000 genomes]
rs62137007	0.83[ASN][1000 genomes]
rs62137008	0.80[ASN][1000 genomes]
rs62137009	0.80[ASN][1000 genomes]
rs62138801	0.89[ASN][1000 genomes]
rs6545026	0.88[YRI][hapmap]
rs6545027	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.94[ASN][1000 genomes]
rs6545028	0.87[ASN][1000 genomes]
rs6545029	0.80[ASN][1000 genomes]
rs6545030	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.82[ASN][1000 genomes]
rs6545034	0.81[ASN][1000 genomes]
rs6545035	0.81[ASN][1000 genomes]
rs6545036	0.92[YRI][hapmap]
rs6705802	0.92[YRI][hapmap]
rs6712029	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[YRI][hapmap];0.82[ASN][1000 genomes]
rs6757206	0.84[ASN][1000 genomes]
rs72818493	0.88[ASN][1000 genomes]
rs72820405	0.81[ASN][1000 genomes]
rs72887649	0.88[ASN][1000 genomes]
rs7566239	0.93[YRI][hapmap]
rs7568960	0.98[ASN][1000 genomes]
rs7576964	0.88[YRI][hapmap]
rs7577237	0.92[YRI][hapmap]
rs7579932	0.93[YRI][hapmap]
rs7600794	0.89[YRI][hapmap]
rs7606104	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48503800-48505400	ZNF genes & repeats	GM12878-XiMat	blood
2	chr2:48503800-48505400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr2:48504600-48505400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:48504800-48505200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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