Variant report

Variant	rs4729973
Chromosome Location	chr7:103870787-103870788
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103858966..103860906-chr7:103867973..103872038,3	K562	blood:
2	chr7:103848155..103849804-chr7:103868628..103871068,2	MCF-7	breast:
3	chr7:103846534..103850528-chr7:103863639..103871951,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164815	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10227080	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10227508	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10230891	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10231179	0.96[CEU][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10231189	0.95[CEU][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10236259	0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10236401	0.95[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10239281	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs10242507	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10246176	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1024817	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10256548	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10256554	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10265732	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10265960	0.95[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10265985	0.95[CEU][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10269939	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1035168	0.82[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10953406	0.95[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10953407	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10953409	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10953410	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11973848	0.87[EUR][1000 genomes]
rs11976032	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11980573	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11984388	0.83[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs12534723	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12535884	1.00[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12537665	0.90[CEU][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12537685	0.95[CEU][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12667514	0.95[CEU][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12668873	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12669853	0.95[CEU][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12705177	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12705185	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12705189	0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13223411	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13223419	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13223492	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13223504	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13237931	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13238019	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13238105	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13438174	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13438176	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13438761	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1557663	1.00[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs194829	0.81[AMR][1000 genomes]
rs194836	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs194839	0.82[AMR][1000 genomes]
rs194840	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs194842	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs194845	0.95[JPT][hapmap]
rs194850	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs194853	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs194854	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs194856	0.82[CEU][hapmap]
rs194860	0.95[JPT][hapmap]
rs194862	0.85[CEU][hapmap]
rs194863	0.83[CEU][hapmap]
rs194864	0.82[CEU][hapmap]
rs194866	0.82[CEU][hapmap]
rs2058720	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2058721	0.84[AMR][1000 genomes]
rs2075217	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2075218	0.95[CEU][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2075219	0.95[CEU][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes]
rs2075220	0.95[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2078807	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs2188284	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs2192965	0.96[CEU][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2214009	0.95[CEU][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs2299407	0.82[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2307400	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2385139	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28372965	0.87[EUR][1000 genomes]
rs28681560	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28767289	0.85[ASN][1000 genomes]
rs28842615	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28859908	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3087358	0.95[CEU][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3808011	0.83[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs3808012	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs3808013	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4006647	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4286867	0.81[EUR][1000 genomes]
rs4370466	0.83[EUR][1000 genomes]
rs4370467	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4385404	0.88[AFR][1000 genomes]
rs4445159	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4461829	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4486111	0.95[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4529396	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4636136	0.95[CEU][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4729962	0.95[JPT][hapmap]
rs4729963	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4729971	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55848	0.82[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs56669148	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62487963	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6944360	0.83[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs6946357	0.95[CEU][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6946587	0.80[ASN][1000 genomes]
rs6948440	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6948673	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6948723	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6948967	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6952639	0.81[CEU][hapmap];0.95[JPT][hapmap]
rs6962612	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6962673	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6967816	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6968451	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6975834	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6979022	0.83[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs6979695	0.83[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs714519	0.95[JPT][hapmap]
rs7350041	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs741325	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs756754	0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7778396	0.95[JPT][hapmap]
rs7795570	0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7806228	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9641322	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9656092	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs971813	0.96[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9791845	0.95[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9918581	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs9918639	0.83[JPT][hapmap];0.80[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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103865200-103871000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:103865200-103871800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:103870000-103871800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:103870000-103871800	Weak transcription	Stomach Mucosa	stomach
5	chr7:103870200-103870800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:103870200-103871200	Enhancers	Brain Germinal Matrix	brain
7	chr7:103870600-103871200	Enhancers	Cortex derived primary cultured neurospheres	brain

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