Variant report

Variant	rs7597935
Chromosome Location	chr2:63993230-63993231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63992375..63994336-chr2:64065980..64068247,2	K562	blood:
2	chr2:63974709..63977005-chr2:63992761..63994693,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10183479	0.83[MKK][hapmap];0.91[YRI][hapmap]
rs10201844	0.84[CHB][hapmap]
rs10211360	0.84[CHB][hapmap]
rs10865342	0.81[AFR][1000 genomes]
rs10865343	0.84[CHB][hapmap]
rs10865344	0.88[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11125981	0.84[AFR][1000 genomes]
rs11677338	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686956	0.87[AFR][1000 genomes]
rs11691987	0.83[MKK][hapmap];0.91[YRI][hapmap]
rs11695421	0.89[AFR][1000 genomes]
rs12713497	0.84[CHB][hapmap]
rs12991311	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006124	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384707	0.84[CHB][hapmap]
rs17619717	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17619753	0.88[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs35474183	0.88[AFR][1000 genomes]
rs4318375	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs4538187	0.83[MKK][hapmap];1.00[YRI][hapmap]
rs4671073	0.83[YRI][hapmap]
rs4671528	0.84[CHB][hapmap]
rs6546029	0.83[MKK][hapmap];0.91[YRI][hapmap]
rs6546030	0.91[YRI][hapmap]
rs6546039	0.84[CHB][hapmap]
rs6710230	0.85[LWK][hapmap];0.92[YRI][hapmap]
rs6715992	0.83[MKK][hapmap];0.91[YRI][hapmap]
rs6726257	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6732746	0.83[MKK][hapmap]
rs6737855	0.84[CHB][hapmap]
rs6741298	0.84[CHB][hapmap]
rs6741584	0.84[CHB][hapmap]
rs6742187	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747307	0.84[CHB][hapmap]
rs6755646	0.91[YRI][hapmap]
rs7590399	0.81[MKK][hapmap];0.91[YRI][hapmap]
rs9309356	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS 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	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63976400-64028600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:63990800-63993400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:63991600-63994400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:63992200-63993400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:63992400-63993400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:63993000-63994400	Weak transcription	Adipose Nuclei	Adipose
7	chr2:63993200-63994200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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