Variant report

Variant	rs7198871
Chromosome Location	chr16:70325318-70325319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2C	chr16:70324942-70325456	GM12878	blood:	n/a	chr16:70325268-70325289 chr16:70325207-70325222 chr16:70325249-70325257 chr16:70325268-70325289
2	FOS	chr16:70325095-70325449	HUVEC	blood vessel:	n/a	chr16:70325247-70325259 chr16:70325247-70325258 chr16:70325249-70325257
3	MEF2A	chr16:70324902-70325428	GM12878	blood:	n/a	chr16:70325268-70325289 chr16:70325249-70325257 chr16:70325268-70325289
4	NFIC	chr16:70324931-70325395	GM12878	blood:	n/a	n/a
5	TBL1XR1	chr16:70324806-70325321	K562	blood:	n/a	n/a
6	FOS	chr16:70325262-70325428	MCF10A-Er-Src	breast:	n/a	n/a
7	MEF2A	chr16:70324935-70325354	GM12878	blood:	n/a	chr16:70325268-70325289 chr16:70325249-70325257 chr16:70325268-70325289
8	FOS	chr16:70325114-70325427	MCF10A-Er-Src	breast:	n/a	chr16:70325247-70325259 chr16:70325247-70325258 chr16:70325249-70325257
9	FOS	chr16:70325284-70325418	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70319780..70324322-chr16:70325066..70330067,6	MCF-7	breast:
2	chr16:70320811..70326767-chr16:70331299..70339483,12	K562	blood:
3	chr16:70294294..70296444-chr16:70323407..70325438,2	K562	blood:
4	chr16:70321807..70326700-chr16:70327142..70336316,14	MCF-7	breast:
5	chr16:70321558..70325394-chr16:70325539..70331219,12	K562	blood:
6	chr16:70294294..70298794-chr16:70322473..70325438,5	K562	blood:

Variant related genes	Relation type
DDX19B	TF binding region
AARS	TF binding region
ENSG00000265230	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000260537	Chromatin interaction

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs11537667	0.81[AMR][1000 genomes]
rs11859191	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11859257	0.81[AMR][1000 genomes]
rs11859730	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11859827	0.81[AMR][1000 genomes]
rs11859870	0.81[AFR][1000 genomes]
rs11860870	1.00[MEX][hapmap]
rs11860922	0.81[AMR][1000 genomes]
rs11861097	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11861651	0.84[AMR][1000 genomes]
rs11862053	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs11862150	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11862188	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11863128	0.86[AFR][1000 genomes]
rs11863943	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11864179	1.00[EUR][1000 genomes]
rs11865484	1.00[EUR][1000 genomes]
rs11865564	1.00[EUR][1000 genomes]
rs11866378	0.81[AMR][1000 genomes]
rs11866451	0.81[AMR][1000 genomes]
rs16970121	0.93[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs16970133	0.93[ASW][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap]
rs16970141	1.00[MEX][hapmap];0.83[YRI][hapmap]
rs16970147	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs16970151	1.00[MEX][hapmap]
rs16970152	1.00[MEX][hapmap]
rs16970159	1.00[MEX][hapmap]
rs16970165	1.00[MEX][hapmap]
rs16970169	1.00[MEX][hapmap]
rs16970302	0.93[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970361	1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs17878609	1.00[EUR][1000 genomes]
rs17878832	1.00[EUR][1000 genomes]
rs17880242	1.00[EUR][1000 genomes]
rs17880268	1.00[MEX][hapmap]
rs17881069	1.00[EUR][1000 genomes]
rs17881219	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17882471	1.00[MEX][hapmap]
rs17883309	1.00[EUR][1000 genomes]
rs17886064	1.00[EUR][1000 genomes]
rs28438754	0.84[AMR][1000 genomes]
rs2869156	0.81[AMR][1000 genomes]
rs3096368	1.00[EUR][1000 genomes]
rs35904382	1.00[EUR][1000 genomes]
rs3972075	0.91[AMR][1000 genomes]
rs3972077	0.84[AMR][1000 genomes]
rs55657328	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55769835	1.00[EUR][1000 genomes]
rs55805938	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55819743	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55936739	1.00[EUR][1000 genomes]
rs55963712	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55965002	0.81[AMR][1000 genomes]
rs55971559	0.81[AMR][1000 genomes]
rs56050266	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56051513	0.91[AMR][1000 genomes]
rs56077083	0.84[AMR][1000 genomes]
rs56082018	1.00[EUR][1000 genomes]
rs56090000	0.81[AMR][1000 genomes]
rs56980444	1.00[EUR][1000 genomes]
rs57320283	0.81[AMR][1000 genomes]
rs57422630	1.00[EUR][1000 genomes]
rs57492770	0.84[AFR][1000 genomes]
rs57623576	0.81[AMR][1000 genomes]
rs58047061	1.00[EUR][1000 genomes]
rs58131227	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58319566	0.91[AMR][1000 genomes]
rs58328210	1.00[EUR][1000 genomes]
rs58434182	0.85[AFR][1000 genomes]
rs58467558	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59260159	0.87[AFR][1000 genomes]
rs59272950	0.84[AMR][1000 genomes]
rs59384897	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59612351	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59769732	0.81[AMR][1000 genomes]
rs59849898	0.81[AMR][1000 genomes]
rs60103946	0.81[AMR][1000 genomes]
rs60426209	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60463946	0.81[AMR][1000 genomes]
rs60815141	1.00[EUR][1000 genomes]
rs60841206	0.81[AMR][1000 genomes]
rs61172065	0.81[AMR][1000 genomes]
rs61319691	1.00[EUR][1000 genomes]
rs61391917	0.81[AMR][1000 genomes]
rs61594809	0.81[AMR][1000 genomes]
rs6499307	1.00[AMR][1000 genomes]
rs6499312	0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs6499313	1.00[EUR][1000 genomes]
rs6499314	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs6499315	1.00[EUR][1000 genomes]
rs7185665	0.81[AMR][1000 genomes]
rs7186024	0.81[AMR][1000 genomes]
rs7188864	1.00[EUR][1000 genomes]
rs7189535	0.86[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7190536	1.00[EUR][1000 genomes]
rs7190921	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191210	0.91[AMR][1000 genomes]
rs7192000	0.93[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195086	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7195567	1.00[MEX][hapmap]
rs7196392	1.00[MEX][hapmap]
rs7199145	1.00[MEX][hapmap]
rs7199346	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7199655	1.00[EUR][1000 genomes]
rs7203761	0.93[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.96[YRI][hapmap]
rs7203772	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.91[YRI][hapmap]
rs7205918	0.81[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7205990	1.00[MEX][hapmap]
rs7206347	1.00[EUR][1000 genomes]
rs74024172	0.91[AMR][1000 genomes]
rs74024176	0.81[AMR][1000 genomes]
rs74024177	0.81[AMR][1000 genomes]
rs74024180	0.81[AMR][1000 genomes]
rs74024182	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024183	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024184	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024185	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024186	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024187	0.81[AMR][1000 genomes]
rs74024188	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024191	0.81[AMR][1000 genomes]
rs74024193	0.81[AMR][1000 genomes]
rs74024196	0.81[AMR][1000 genomes]
rs74026022	1.00[EUR][1000 genomes]
rs74026033	1.00[EUR][1000 genomes]
rs74026049	1.00[EUR][1000 genomes]
rs8044699	0.91[AMR][1000 genomes]
rs8045571	1.00[MEX][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045769	0.91[AMR][1000 genomes]
rs8046253	1.00[EUR][1000 genomes]
rs8046662	1.00[MEX][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046786	0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8049046	1.00[EUR][1000 genomes]
rs8049316	1.00[MEX][hapmap]
rs8049361	0.91[AMR][1000 genomes]
rs8053657	1.00[EUR][1000 genomes]
rs8054203	1.00[EUR][1000 genomes]
rs8055675	1.00[AMR][1000 genomes]
rs8056048	0.84[AMR][1000 genomes]
rs8056196	1.00[AMR][1000 genomes]
rs8056811	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs8062602	1.00[EUR][1000 genomes]
rs8063749	0.81[AMR][1000 genomes]
rs8064090	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv960356	chr16:70318585-70339325	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70324000-70332400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr16:70324000-70332600	Weak transcription	NHEK	skin
3	chr16:70324000-70332800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:70324200-70329000	Weak transcription	HepG2	liver
5	chr16:70324200-70332400	Weak transcription	Colonic Mucosa	Colon
6	chr16:70324200-70332400	Weak transcription	Fetal Muscle Leg	muscle
7	chr16:70324200-70332600	Weak transcription	Placenta	Placenta
8	chr16:70324400-70332400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:70324800-70325400	Enhancers	HUVEC	blood vessel
10	chr16:70324800-70328400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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