Variant report

Variant	rs6970469
Chromosome Location	chr7:39963509-39963510
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	chr7:39955644..39957229-chr7:39962334..39965045,2	K562	blood:
2	chr7:39963368..39965638-chr7:39986641..39989237,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1002749	0.93[ASN][1000 genomes]
rs10232503	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10233552	0.81[EUR][1000 genomes]
rs10243593	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10252631	0.81[EUR][1000 genomes]
rs10261984	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10951623	0.84[EUR][1000 genomes]
rs10951624	0.81[EUR][1000 genomes]
rs10951625	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11768464	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11972983	0.84[EUR][1000 genomes]
rs11977756	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11983287	0.84[EUR][1000 genomes]
rs12530835	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12531761	0.84[EUR][1000 genomes]
rs12531774	0.84[EUR][1000 genomes]
rs12532714	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12534103	0.81[EUR][1000 genomes]
rs12535281	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536190	0.84[EUR][1000 genomes]
rs12536726	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12537125	0.84[EUR][1000 genomes]
rs12537320	0.84[EUR][1000 genomes]
rs12539956	0.81[EUR][1000 genomes]
rs1257698	0.81[EUR][1000 genomes]
rs12666454	0.86[EUR][1000 genomes]
rs12669872	0.84[EUR][1000 genomes]
rs12672040	0.81[EUR][1000 genomes]
rs12672136	0.84[EUR][1000 genomes]
rs12672142	0.84[EUR][1000 genomes]
rs13438258	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13438262	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13438324	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17171637	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17171645	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17171646	0.84[EUR][1000 genomes]
rs17496429	0.84[EUR][1000 genomes]
rs17496670	0.87[EUR][1000 genomes]
rs17496733	0.84[EUR][1000 genomes]
rs17537767	0.84[EUR][1000 genomes]
rs17538125	0.84[EUR][1000 genomes]
rs2015842	0.84[EUR][1000 genomes]
rs2302341	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2329615	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28627647	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28879668	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34650758	0.92[ASN][1000 genomes]
rs3735135	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3800799	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3801238	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3847019	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3911836	0.84[EUR][1000 genomes]
rs3911889	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4344004	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4720344	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4720347	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4720349	0.81[EUR][1000 genomes]
rs4723923	0.84[EUR][1000 genomes]
rs4723925	0.81[EUR][1000 genomes]
rs4723927	0.84[EUR][1000 genomes]
rs4723928	0.84[EUR][1000 genomes]
rs60315659	0.84[EUR][1000 genomes]
rs6462956	0.91[ASN][1000 genomes]
rs6956091	0.93[ASN][1000 genomes]
rs6961040	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6963973	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6967332	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758696	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs773411	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7779663	0.84[EUR][1000 genomes]
rs7790624	0.90[ASN][1000 genomes]
rs940272	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	esv3375265	chr7:39939761-39966001	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3347596	chr7:39939761-39969926	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39950000-39965000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:39961800-39964800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:39962000-39966000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:39962600-39963800	Weak transcription	HepG2	liver
5	chr7:39963000-39964000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:39963000-39964000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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