Variant report

Variant	rs4370470
Chromosome Location	chr7:78358514-78358515
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	chr7:78354533..78356785-chr7:78357118..78359771,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10228963	1.00[CEU][hapmap]
rs10229438	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs10229458	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs10230190	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs10230478	1.00[CEU][hapmap]
rs10230501	1.00[CEU][hapmap]
rs10242583	0.93[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10243772	1.00[CEU][hapmap]
rs10243883	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs10272085	1.00[CEU][hapmap]
rs10273632	1.00[CEU][hapmap]
rs10485917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10485918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10485920	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10953681	1.00[CEU][hapmap]
rs10953686	1.00[CEU][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10953687	1.00[CEU][hapmap]
rs11760265	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11760430	1.00[CEU][hapmap]
rs11762589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11763541	1.00[CEU][hapmap]
rs11764280	1.00[CEU][hapmap]
rs11768142	1.00[CEU][hapmap]
rs11768372	1.00[CEU][hapmap]
rs11770561	1.00[CEU][hapmap]
rs11773249	1.00[CEU][hapmap]
rs1207873	0.84[ASN][1000 genomes]
rs12530747	1.00[CEU][hapmap]
rs12530771	1.00[CEU][hapmap]
rs12530792	1.00[CEU][hapmap]
rs12531353	1.00[CEU][hapmap]
rs12531389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12531547	1.00[CEU][hapmap]
rs12531558	1.00[CEU][hapmap]
rs12533182	1.00[CEU][hapmap]
rs12533194	1.00[CEU][hapmap]
rs12533269	1.00[CEU][hapmap]
rs12533873	1.00[CEU][hapmap]
rs12534669	1.00[CEU][hapmap]
rs12534800	1.00[CEU][hapmap]
rs12536628	1.00[CEU][hapmap]
rs12536952	1.00[CEU][hapmap]
rs12536959	1.00[CEU][hapmap]
rs12537842	1.00[CEU][hapmap]
rs12538564	0.86[CEU][hapmap]
rs12538687	1.00[CEU][hapmap]
rs12538706	1.00[CEU][hapmap]
rs12540478	1.00[CEU][hapmap]
rs12540572	1.00[CEU][hapmap]
rs12540597	1.00[CEU][hapmap]
rs13240011	1.00[CEU][hapmap]
rs1390822	1.00[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs1496765	1.00[CEU][hapmap]
rs16886300	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs16886301	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs16886304	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs16886321	0.93[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17151403	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17151416	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[ASN][1000 genomes]
rs17151445	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[ASN][1000 genomes]
rs17441871	1.00[CEU][hapmap]
rs17442142	1.00[CEU][hapmap]
rs34048176	0.86[ASN][1000 genomes]
rs37853	0.88[JPT][hapmap]
rs4730487	0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs58148748	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6953739	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs73152428	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73152456	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs739897	0.86[ASN][1000 genomes]
rs7789893	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7790100	0.95[ASN][1000 genomes]
rs7810385	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs877682	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1019355	chr7:78319575-78399845	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv607657	chr7:78329795-78483211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4370470	SGCE	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78346800-78361400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:78355600-78363400	Weak transcription	Brain Anterior Caudate	brain

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