Variant report

Variant	rs7844291
Chromosome Location	chr8:55016650-55016651
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	chr8:55014583..55016959-chr8:55047205..55048947,2	K562	blood:

Variant related genes	Relation type
ENSG00000137547	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10093311	0.91[AMR][1000 genomes]
rs10093431	0.96[AMR][1000 genomes]
rs10095163	0.91[AMR][1000 genomes]
rs10095164	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes]
rs10095679	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs10096376	0.96[AMR][1000 genomes]
rs10099080	0.96[AMR][1000 genomes]
rs10101289	0.96[AMR][1000 genomes]
rs10102439	0.96[AMR][1000 genomes]
rs10102726	0.91[AMR][1000 genomes]
rs10102905	0.91[AMR][1000 genomes]
rs10112203	0.91[AMR][1000 genomes]
rs1044604	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1112697	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1112698	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986605	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988830	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11988859	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11993180	1.00[AMR][1000 genomes]
rs11994366	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11998000	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998659	0.96[AMR][1000 genomes]
rs12115094	1.00[EUR][1000 genomes]
rs16919750	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16919924	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28369337	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28379732	0.96[AMR][1000 genomes]
rs28397021	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28412019	0.82[AMR][1000 genomes]
rs28413072	0.96[AMR][1000 genomes]
rs28507589	0.96[AMR][1000 genomes]
rs28533970	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28565202	0.86[AMR][1000 genomes]
rs28707072	0.91[AMR][1000 genomes]
rs28736685	0.96[AMR][1000 genomes]
rs28759114	0.96[AMR][1000 genomes]
rs55704212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55781183	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55864901	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56087054	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56902942	0.91[AMR][1000 genomes]
rs57093383	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58515879	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58595525	0.91[AMR][1000 genomes]
rs59087284	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59114404	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59270026	1.00[EUR][1000 genomes]
rs59277432	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59387379	0.96[AMR][1000 genomes]
rs60186893	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60672236	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60805450	0.96[AMR][1000 genomes]
rs6473899	0.96[AMR][1000 genomes]
rs6473901	1.00[AMR][1000 genomes]
rs6473902	1.00[AMR][1000 genomes]
rs6473903	1.00[AMR][1000 genomes]
rs6473905	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473906	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473907	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473908	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473910	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981386	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6983650	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6983958	0.96[AMR][1000 genomes]
rs6984119	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6989211	0.96[AMR][1000 genomes]
rs6992073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7001391	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003793	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7004808	0.91[AMR][1000 genomes]
rs7005653	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007028	0.96[AMR][1000 genomes]
rs7007031	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007176	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes]
rs7008593	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7011032	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7014036	0.91[AMR][1000 genomes]
rs7016108	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7018089	0.91[AMR][1000 genomes]
rs7018355	0.95[AMR][1000 genomes]
rs73589273	0.86[AMR][1000 genomes]
rs73589286	0.96[AMR][1000 genomes]
rs73589295	0.96[AMR][1000 genomes]
rs73679588	1.00[AMR][1000 genomes]
rs73679589	1.00[AMR][1000 genomes]
rs73679596	1.00[AMR][1000 genomes]
rs73679602	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681304	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681305	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681307	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681308	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681309	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681805	1.00[AMR][1000 genomes]
rs73681806	1.00[AMR][1000 genomes]
rs7815998	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822750	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7823234	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7824355	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes]
rs7824979	1.00[AMR][1000 genomes]
rs7833336	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834757	0.96[AMR][1000 genomes]
rs7836760	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839276	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844299	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7844390	1.00[CEU][hapmap]
rs7846650	0.96[AMR][1000 genomes]
rs9771960	0.95[AMR][1000 genomes]
rs9918912	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats 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	11 gene(s)	inside rSNPs	diseases
7	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv890922	chr8:54994759-55023494	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55014000-55018400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:55014800-55017800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:55014800-55018800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:55015000-55018000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:55015000-55018000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:55015000-55018000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:55015000-55018200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:55015000-55018600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:55015000-55018800	Weak transcription	HMEC	breast
10	chr8:55015200-55017000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:55015200-55017000	Weak transcription	Placenta	Placenta
12	chr8:55015200-55018000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:55015200-55018200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:55015200-55018200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:55015200-55018200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:55015200-55018400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:55015200-55018400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:55015200-55018400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:55015200-55018400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:55015200-55018400	Weak transcription	K562	blood
21	chr8:55015200-55018600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:55015200-55018600	Weak transcription	HepG2	liver
23	chr8:55015200-55018800	Weak transcription	NHEK	skin
24	chr8:55015400-55018800	Weak transcription	GM12878-XiMat	blood
25	chr8:55016200-55017000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:55016600-55017200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:55016600-55017200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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