Variant report

Variant	rs17037255
Chromosome Location	chr2:48510259-48510260
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48510170..48510784-chr8:119556555..119557269,2	MCF-7	breast:
2	chr2:48434273..48436933-chr2:48509087..48510604,2	K562	blood:
3	chr2:48507670..48509520-chr2:48510001..48512667,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11125170	0.84[CEU][hapmap]
rs13404317	0.90[EUR][1000 genomes]
rs1509562	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17397205	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28399967	0.80[AFR][1000 genomes]
rs28439229	0.91[YRI][hapmap]
rs57729372	0.84[ASN][1000 genomes]
rs62137000	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62138796	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138798	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62138804	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62138805	0.90[ASN][1000 genomes]
rs62138808	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62138810	0.82[EUR][1000 genomes]
rs62138815	0.87[ASN][1000 genomes]
rs62138816	0.87[ASN][1000 genomes]
rs62138817	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6545025	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6545026	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6545031	0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs6545033	0.92[YRI][hapmap]
rs6738828	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72820413	0.84[ASN][1000 genomes]
rs72820414	0.84[ASN][1000 genomes]
rs72887650	0.85[AFR][1000 genomes]
rs7563625	0.84[CEU][hapmap];0.91[YRI][hapmap]
rs7583112	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs959141	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9677579	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48505200-48511600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:48505400-48513600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:48506000-48539000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:48506600-48510800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:48507000-48510800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:48507400-48510800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:48507400-48511000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:48509600-48511200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:48509600-48511600	Weak transcription	Placenta	Placenta
10	chr2:48509600-48511600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:48510200-48510600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:48510200-48511600	Weak transcription	K562	blood

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