Variant report

Variant	rs17690109
Chromosome Location	chr15:42343001-42343002
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42334887..42337926-chr15:42340297..42343175,4	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11070356	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12148273	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17690827	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17690899	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17691153	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17747505	0.91[CEU][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17748059	0.91[CEU][hapmap]
rs17748132	0.91[CEU][hapmap]
rs1993069	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412656	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28568280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4923922	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4923923	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4923924	0.87[EUR][1000 genomes]
rs4923925	0.87[EUR][1000 genomes]
rs4923928	0.91[CEU][hapmap]
rs4924608	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4924609	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4924611	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924614	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4924615	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4924616	0.87[EUR][1000 genomes]
rs4924617	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4924620	0.91[CEU][hapmap]
rs7162019	0.91[CEU][hapmap]
rs7165460	0.91[CEU][hapmap]
rs7166026	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7166111	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7166789	0.91[CEU][hapmap]
rs7168863	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7173686	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7176443	1.00[CEU][hapmap]
rs7177034	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7180420	0.87[EUR][1000 genomes]
rs750051	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs750052	0.91[CEU][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs755599	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8029713	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS 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 miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv471683	chr15:42334375-42502982	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1043641	chr15:42336584-42381240	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42340800-42346400	Enhancers	Fetal Muscle Leg	muscle
2	chr15:42341400-42347000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr15:42341400-42348800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr15:42341400-42349000	Weak transcription	Esophagus	oesophagus
5	chr15:42341600-42343200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr15:42341600-42343800	Enhancers	Fetal Heart	heart
7	chr15:42341600-42344200	Enhancers	Fetal Muscle Trunk	muscle
8	chr15:42342200-42344200	Enhancers	Right Atrium	heart
9	chr15:42342200-42349000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:42342400-42349000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:42342600-42345000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:42342800-42344000	Enhancers	Fetal Stomach	stomach
13	chr15:42343000-42343200	Bivalent Enhancer	HSMMtube	muscle
14	chr15:42343000-42343600	Enhancers	Fetal Brain Male	brain
15	chr15:42343000-42345400	Weak transcription	Psoas Muscle	Psoas
16	chr15:42343000-42349000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:42343000-42349000	Weak transcription	Left Ventricle	heart
18	chr15:42343000-42349000	Weak transcription	Right Ventricle	heart
19	chr15:42343000-42357600	Weak transcription	Lung	lung

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