Variant report

Variant	rs7017389
Chromosome Location	chr8:91698953-91698954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91655961..91659913-chr8:91697811..91701494,3	K562	blood:
2	chr8:91652169..91654028-chr8:91698689..91701594,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246792	Chromatin interaction
ENSG00000180694	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10046610	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10046655	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10046723	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10092379	0.83[AMR][1000 genomes]
rs10102274	0.91[EUR][1000 genomes]
rs10103195	0.91[EUR][1000 genomes]
rs10504897	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10504899	0.91[AMR][1000 genomes]
rs10504900	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11986094	0.91[EUR][1000 genomes]
rs11989315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994308	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16893366	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16905044	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16905150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905310	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16905319	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16905331	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17717748	0.82[EUR][1000 genomes]
rs28394575	0.86[ASN][1000 genomes]
rs4265146	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4339599	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4500048	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4571698	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59253454	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60664481	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60690249	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61312544	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61441737	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6471253	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6984689	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994987	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7011031	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7011692	0.91[EUR][1000 genomes]
rs7013400	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73301574	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73301578	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73301581	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73301593	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73305518	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73307288	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73311066	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73311068	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73311083	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73311086	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73311089	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73311093	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7815900	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7823529	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9297885	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3326233	chr8:91690825-91708859	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3368643	chr8:91695076-91698974	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91692800-91706400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:91695000-91699600	Weak transcription	NHDF-Ad	bronchial
3	chr8:91695000-91709600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:91697400-91699400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:91697400-91704400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:91698000-91699000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:91698000-91699400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:91698000-91699400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:91698200-91699400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:91698200-91699600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:91698400-91699000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:91698400-91700200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:91698800-91699600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:91698800-91700200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:91698800-91721200	Weak transcription	H9 Cell Line	embryonic stem cell

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