Variant report

Variant	rs13404704
Chromosome Location	chr2:152508429-152508430
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	chr2:152499221..152501472-chr2:152507320..152509759,2	K562	blood:
2	chr2:152507038..152510208-chr2:152517884..152520798,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10167462	0.94[CEU][hapmap]
rs10170273	1.00[CEU][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes]
rs10178880	1.00[CEU][hapmap];0.89[JPT][hapmap];0.98[EUR][1000 genomes]
rs10193188	0.94[CEU][hapmap];0.89[JPT][hapmap]
rs1054883	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs10930723	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10930740	0.81[EUR][1000 genomes]
rs11695661	0.94[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs11904536	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12052828	0.94[CEU][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes]
rs12328501	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12464543	0.94[CEU][hapmap]
rs12616767	1.00[CEU][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12618063	0.87[CHB][hapmap]
rs12620077	1.00[CEU][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes]
rs12693090	0.82[EUR][1000 genomes]
rs13032138	1.00[CEU][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes]
rs13428975	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1357468	0.80[CEU][hapmap]
rs1799	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs2344733	0.89[CEU][hapmap]
rs4077121	0.94[CEU][hapmap]
rs4077122	0.94[CEU][hapmap]
rs4273217	0.94[CEU][hapmap]
rs4289189	0.83[EUR][1000 genomes]
rs4374369	0.94[CEU][hapmap]
rs4381781	0.94[CEU][hapmap];0.84[JPT][hapmap]
rs4413159	0.94[CEU][hapmap]
rs4425075	0.94[CEU][hapmap];0.84[JPT][hapmap]
rs4465763	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs4536649	1.00[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4564765	0.97[EUR][1000 genomes]
rs4564766	0.94[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs4611637	0.94[CEU][hapmap]
rs4614931	0.94[CEU][hapmap]
rs4625904	0.94[CEU][hapmap]
rs4664494	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4664497	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs4664501	0.94[CEU][hapmap]
rs5005569	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6433566	0.83[EUR][1000 genomes]
rs6433569	0.89[JPT][hapmap]
rs6433575	0.94[CEU][hapmap];0.84[JPT][hapmap]
rs6713162	1.00[CEU][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes]
rs6716286	0.94[CEU][hapmap]
rs6729101	0.87[CEU][hapmap]
rs6730589	0.94[CEU][hapmap]
rs6733811	0.84[JPT][hapmap]
rs6733909	0.94[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs6734148	0.94[CEU][hapmap];0.89[JPT][hapmap]
rs6735208	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6760384	0.94[CEU][hapmap]
rs7426114	1.00[CEU][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes]
rs7563441	0.94[CEU][hapmap]
rs7564024	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7564674	0.83[EUR][1000 genomes]
rs7596744	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs9287990	1.00[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

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	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	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	chr2:152500000-152512200	Weak transcription	Pancreas	Pancrea
2	chr2:152502200-152523000	Weak transcription	Placenta	Placenta
3	chr2:152504400-152531600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:152505200-152543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:152506400-152509000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:152507000-152510800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:152507000-152511400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:152507200-152508600	Enhancers	K562	blood
9	chr2:152507600-152508800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:152507600-152521000	Weak transcription	Psoas Muscle	Psoas
11	chr2:152507800-152510800	Weak transcription	HSMMtube	muscle
12	chr2:152507800-152511400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:152507800-152511400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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