Variant report

Variant	rs6999873
Chromosome Location	chr8:92060665-92060666
allele	A/C
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	WRNIP1	chr8:92060612-92060795	GM12878	blood:	n/a	n/a
2	CHD1	chr8:92060575-92060746	GM12878	blood:	n/a	n/a
3	SPI1	chr8:92060380-92060715	GM12878	blood:	n/a	n/a
4	MAFK	chr8:92060469-92060744	HepG2	liver:	n/a	n/a
5	EBF1	chr8:92060562-92060804	GM12878	blood:	n/a	n/a
6	ZNF384	chr8:92060382-92060667	GM12878	blood:	n/a	n/a
7	SPI1	chr8:92060278-92060797	HL-60	blood:	n/a	n/a
8	SPI1	chr8:92060311-92060735	GM12891	blood:	n/a	n/a
9	MAX	chr8:92060609-92060915	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:92060283..92062519-chr8:92069210..92073278,3	K562	blood:
2	chr8:92050004..92056454-chr8:92058194..92067422,9	K562	blood:

Variant related genes	Relation type
ENSG00000254219	TF binding region
ENSG00000155099	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10090882	0.80[EUR][1000 genomes]
rs10091357	0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs10096420	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375263	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12386850	0.80[EUR][1000 genomes]
rs13248502	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[TSI][hapmap]
rs13254176	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[TSI][hapmap]
rs13259915	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs13262428	0.86[EUR][1000 genomes]
rs13265723	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs13268588	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[TSI][hapmap]
rs13269704	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs13270682	0.86[EUR][1000 genomes]
rs13277179	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs13278451	0.86[EUR][1000 genomes]
rs13279087	0.86[EUR][1000 genomes]
rs13279629	0.86[EUR][1000 genomes]
rs13281102	0.86[EUR][1000 genomes]
rs34052615	0.86[EUR][1000 genomes]
rs34184044	0.81[EUR][1000 genomes]
rs34377386	0.83[EUR][1000 genomes]
rs34811059	0.86[EUR][1000 genomes]
rs34917704	0.90[EUR][1000 genomes]
rs35193292	0.82[EUR][1000 genomes]
rs35204946	0.86[EUR][1000 genomes]
rs35234461	0.86[EUR][1000 genomes]
rs35442880	0.83[EUR][1000 genomes]
rs35716133	0.83[EUR][1000 genomes]
rs35716905	0.86[EUR][1000 genomes]
rs35858946	0.86[EUR][1000 genomes]
rs35913126	0.86[EUR][1000 genomes]
rs36057933	0.86[EUR][1000 genomes]
rs4260862	0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs4467904	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];0.94[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61003561	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71528764	0.86[EUR][1000 genomes]
rs71528766	0.86[EUR][1000 genomes]
rs71528767	0.86[EUR][1000 genomes]
rs71528768	0.86[EUR][1000 genomes]
rs71528769	0.86[EUR][1000 genomes]
rs71528773	0.86[EUR][1000 genomes]
rs71528780	0.86[EUR][1000 genomes]
rs73299992	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301705	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301707	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820781	0.80[EUR][1000 genomes]
rs7836000	0.86[ASW][hapmap];0.83[LWK][hapmap];0.81[AFR][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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92053800-92065800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:92053800-92080400	Weak transcription	Fetal Brain Female	brain
3	chr8:92055200-92062800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:92057000-92071200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:92057800-92063000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:92058200-92064800	Weak transcription	K562	blood
7	chr8:92059400-92061600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:92059800-92061000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:92059800-92061800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr8:92060000-92061400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:92060000-92061400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:92060200-92060800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:92060200-92061400	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:92060200-92061400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr8:92060200-92061400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:92060200-92061600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:92060400-92061000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:92060400-92061000	Flanking Active TSS	GM12878-XiMat	blood
19	chr8:92060400-92063000	Weak transcription	Primary B cells from cord blood	blood
20	chr8:92060600-92061400	Enhancers	Primary T cells from cord blood	blood

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