Variant report

Variant	rs9986712
Chromosome Location	chr7:103325422-103325423
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	chr7:103320659..103322391-chr7:103324017..103325552,2	K562	blood:
2	chr7:103319857..103322133-chr7:103324441..103326185,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10233007	1.00[MEX][hapmap]
rs10257295	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10269791	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11976596	1.00[CHB][hapmap]
rs11976809	1.00[ASN][1000 genomes]
rs11979780	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17154257	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2285335	1.00[JPT][hapmap]
rs2299361	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2299362	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[ASN][1000 genomes]
rs2301560	1.00[ASN][1000 genomes]
rs2382880	1.00[MEX][hapmap]
rs2382881	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2382882	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs28784650	0.93[AFR][1000 genomes]
rs28862664	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs362699	1.00[MEX][hapmap]
rs3757736	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3819473	1.00[JPT][hapmap]
rs476736	1.00[JPT][hapmap]
rs491170	1.00[JPT][hapmap]
rs491921	1.00[JPT][hapmap]
rs496801	1.00[JPT][hapmap]
rs499998	1.00[JPT][hapmap]
rs549743	1.00[JPT][hapmap]
rs588423	1.00[JPT][hapmap]
rs59475294	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61411045	1.00[ASN][1000 genomes]
rs636187	1.00[JPT][hapmap]
rs638355	1.00[JPT][hapmap]
rs651488	1.00[JPT][hapmap]
rs665251	1.00[JPT][hapmap]
rs682018	1.00[JPT][hapmap]
rs683360	1.00[JPT][hapmap]
rs6958285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410852	1.00[ASN][1000 genomes]
rs73410854	1.00[ASN][1000 genomes]
rs7779598	1.00[MEX][hapmap]
rs7810686	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7811905	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs9770578	0.92[AFR][1000 genomes];1.00[AMR][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	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1835816	chr7:103255144-103354223	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103321400-103329800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:103321800-103330800	Weak transcription	K562	blood
3	chr7:103322200-103328800	Weak transcription	HepG2	liver

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