Variant report

Variant	rs6705361
Chromosome Location	chr2:149356409-149356410
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	chr2:149354442..149357102-chr2:149358398..149361183,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10177983	0.86[JPT][hapmap]
rs10181555	0.86[JPT][hapmap]
rs10181614	0.86[JPT][hapmap]
rs10928400	0.83[EUR][1000 genomes]
rs10928408	0.85[JPT][hapmap]
rs11687034	0.86[JPT][hapmap]
rs11688979	0.87[GIH][hapmap]
rs12470026	0.83[EUR][1000 genomes]
rs12615224	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13003024	0.90[EUR][1000 genomes]
rs13009428	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13016446	0.86[JPT][hapmap]
rs13022094	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16828786	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16828790	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4284768	0.92[EUR][1000 genomes]
rs4972281	0.84[GIH][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes]
rs4972377	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4972378	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61315601	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6716704	0.87[GIH][hapmap];0.86[JPT][hapmap]
rs6717865	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6717985	0.85[ASN][1000 genomes]
rs7564206	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7574168	0.86[JPT][hapmap]
rs7574666	0.85[GIH][hapmap];0.86[JPT][hapmap]
rs7592536	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1827161	chr2:149352353-149475737	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv961896	chr2:149352746-149356995	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6705361	EPC2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149352000-149357000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:149352800-149365800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:149353800-149356600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:149356200-149356800	Enhancers	Primary B cells from peripheral blood	blood

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