Variant report

Variant	rs4694574
Chromosome Location	chr4:73752329-73752330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:73568023..73568623-chr4:73752188..73753038,2	MCF-7	breast:
2	chr4:73192107..73193147-chr4:73752130..73753066,3	K562	blood:
3	chr4:73226037..73227750-chr4:73750692..73753662,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10004087	0.93[ASN][1000 genomes]
rs10021333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10155153	0.86[ASN][1000 genomes]
rs11939560	0.95[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs12647893	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13103819	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13129078	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13129666	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13143720	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1582753	0.89[ASN][1000 genomes]
rs1599448	0.87[ASN][1000 genomes]
rs167561	0.86[ASN][1000 genomes]
rs16848812	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs192876	0.85[ASN][1000 genomes]
rs2126207	0.89[ASN][1000 genomes]
rs221594	0.85[ASN][1000 genomes]
rs2219625	0.85[ASN][1000 genomes]
rs2614299	0.89[ASN][1000 genomes]
rs315316	0.89[ASN][1000 genomes]
rs315326	0.85[ASN][1000 genomes]
rs315329	0.83[ASN][1000 genomes]
rs315333	0.85[ASN][1000 genomes]
rs315334	0.85[ASN][1000 genomes]
rs315341	0.86[ASN][1000 genomes]
rs315363	0.89[ASN][1000 genomes]
rs315368	0.89[ASN][1000 genomes]
rs315374	0.88[ASN][1000 genomes]
rs35038748	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35784055	0.85[ASN][1000 genomes]
rs4694143	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4694144	0.88[ASN][1000 genomes]
rs4694548	0.91[ASN][1000 genomes]
rs4694549	0.85[ASN][1000 genomes]
rs4694557	0.88[ASN][1000 genomes]
rs4694576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4694577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334611	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs922254	0.85[ASN][1000 genomes]
rs922255	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2757068	chr4:73683018-73770378	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759261	chr4:73683018-73770378	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv436952	chr4:73693532-73759117	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv437923	chr4:73699066-73758650	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv818243	chr4:73707973-73758511	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1005704	chr4:73708248-73907315	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv829971	chr4:73709753-73880451	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1014364	chr4:73724140-73771587	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4694574	RASSF6	cis	lymphoblastoid	seeQTL
rs4694574	CCNI	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73751200-73752600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:73752000-73753200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr4:73752200-73752800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:73752200-73753400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:73752200-73753400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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