Variant report

Variant	rs2188284
Chromosome Location	chr7:103864567-103864568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103864521..103866383-chr7:103867413..103869166,2	MCF-7	breast:
2	chr7:103846534..103850528-chr7:103863639..103871951,9	MCF-7	breast:
3	chr7:103846903..103848907-chr7:103862421..103864771,2	MCF-7	breast:
4	chr7:103846683..103848713-chr7:103864388..103866402,2	K562	blood:

Variant related genes	Relation type
ENSG00000164815	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10227080	0.99[ASN][1000 genomes]
rs10227508	1.00[ASN][1000 genomes]
rs10230891	0.81[ASN][1000 genomes]
rs10231179	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10231189	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10236259	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10236401	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10239281	0.82[JPT][hapmap]
rs10242507	1.00[ASN][1000 genomes]
rs10246176	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256548	1.00[ASN][1000 genomes]
rs10256554	1.00[ASN][1000 genomes]
rs10265732	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10265960	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10265985	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10269939	0.82[JPT][hapmap]
rs10808128	0.91[ASW][hapmap];1.00[YRI][hapmap]
rs10953406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10953407	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10953408	0.91[ASW][hapmap];1.00[YRI][hapmap]
rs10953409	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10953410	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11973848	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11976032	0.80[ASN][1000 genomes]
rs11980573	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11984388	0.82[JPT][hapmap]
rs12534723	0.87[ASN][1000 genomes]
rs12535884	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12537665	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12537685	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12667514	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12668873	0.98[ASN][1000 genomes]
rs12669853	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12705177	0.82[JPT][hapmap]
rs12705189	0.82[JPT][hapmap]
rs13223411	1.00[ASN][1000 genomes]
rs13223419	0.99[ASN][1000 genomes]
rs13223492	1.00[ASN][1000 genomes]
rs13223504	1.00[ASN][1000 genomes]
rs13237931	1.00[ASN][1000 genomes]
rs13238019	1.00[ASN][1000 genomes]
rs13238105	1.00[ASN][1000 genomes]
rs13438174	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13438176	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438761	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1557663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs194836	0.82[JPT][hapmap]
rs194840	0.86[JPT][hapmap]
rs194842	0.82[JPT][hapmap]
rs194850	0.82[JPT][hapmap]
rs194853	0.81[JPT][hapmap]
rs194854	0.82[JPT][hapmap]
rs2058720	0.80[JPT][hapmap]
rs2075217	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2075218	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2075219	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2075220	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2078807	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2214009	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299407	0.82[JPT][hapmap]
rs2307400	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs2385139	1.00[ASN][1000 genomes]
rs2385140	0.82[ASW][hapmap];0.93[YRI][hapmap]
rs28372965	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28681560	1.00[ASN][1000 genomes]
rs28842615	1.00[ASN][1000 genomes]
rs28859908	1.00[ASN][1000 genomes]
rs3087358	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3808011	0.81[JPT][hapmap]
rs3808012	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs3808013	0.82[JPT][hapmap]
rs4006647	1.00[ASN][1000 genomes]
rs4286867	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4370466	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4370467	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4445159	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4486111	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.83[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4529396	0.93[ASN][1000 genomes]
rs4636136	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4729971	0.81[ASN][1000 genomes]
rs4729973	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs55848	0.82[JPT][hapmap]
rs56669148	1.00[ASN][1000 genomes]
rs62487963	1.00[ASN][1000 genomes]
rs6944360	0.82[JPT][hapmap]
rs6946357	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6946587	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948440	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6948583	0.91[ASW][hapmap];1.00[YRI][hapmap]
rs6948673	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6948723	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6948967	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6962612	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6962673	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6967816	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968451	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6975834	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs6979022	0.82[JPT][hapmap]
rs7350041	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs741325	0.82[JPT][hapmap]
rs756754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778396	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7795570	0.82[JPT][hapmap]
rs7806228	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9641322	0.82[JPT][hapmap]
rs971813	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9791845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9918581	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	nsv1029571	chr7:103855890-103909757	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv608066	chr7:103861035-103916484	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv429789	chr7:103862259-103909757	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2188284	TAF6	cis	parietal	SCAN
rs2188284	GPC2	cis	parietal	SCAN
rs2188284	PRKRIP1	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103864200-103865200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:103864200-103865600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:103864400-103864800	Enhancers	Hela-S3	cervix
4	chr7:103864400-103865200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:103864400-103865200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:103864400-103865200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:103864400-103865600	Enhancers	Stomach Mucosa	stomach
8	chr7:103864400-103865600	Enhancers	A549	lung

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