Variant report

Variant	rs57259822
Chromosome Location	chr7:12360599-12360600
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	chr7:12359587..12361942-chr7:12364993..12366787,2	K562	blood:
2	chr7:12359785..12361369-chr7:12363361..12365480,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VWDE-5	chr7:12360180-12360643	expReg_chr7_1116_-

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10224863	1.00[EUR][1000 genomes]
rs10232185	1.00[EUR][1000 genomes]
rs10232837	1.00[EUR][1000 genomes]
rs10233068	1.00[EUR][1000 genomes]
rs10240596	1.00[EUR][1000 genomes]
rs10245998	1.00[EUR][1000 genomes]
rs10246117	1.00[EUR][1000 genomes]
rs10250410	1.00[EUR][1000 genomes]
rs10250861	1.00[EUR][1000 genomes]
rs10251780	1.00[EUR][1000 genomes]
rs10255590	1.00[EUR][1000 genomes]
rs10259433	1.00[EUR][1000 genomes]
rs10266459	1.00[EUR][1000 genomes]
rs10267494	1.00[EUR][1000 genomes]
rs10270541	1.00[EUR][1000 genomes]
rs10277600	1.00[EUR][1000 genomes]
rs13328318	1.00[EUR][1000 genomes]
rs1595012	1.00[EUR][1000 genomes]
rs16877307	1.00[EUR][1000 genomes]
rs17165685	1.00[EUR][1000 genomes]
rs17165707	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17165709	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17166002	1.00[EUR][1000 genomes]
rs28409186	1.00[EUR][1000 genomes]
rs28432320	1.00[EUR][1000 genomes]
rs28451348	1.00[EUR][1000 genomes]
rs28465410	1.00[EUR][1000 genomes]
rs28806867	1.00[EUR][1000 genomes]
rs57209188	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57742006	1.00[EUR][1000 genomes]
rs58059818	1.00[EUR][1000 genomes]
rs58476665	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58749049	1.00[EUR][1000 genomes]
rs58818488	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59769625	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61411483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6942432	0.82[AFR][1000 genomes]
rs6947477	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6968985	1.00[EUR][1000 genomes]
rs6977974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6978326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288165	1.00[EUR][1000 genomes]
rs73288192	1.00[EUR][1000 genomes]
rs73288195	1.00[EUR][1000 genomes]
rs73290105	1.00[EUR][1000 genomes]
rs73290106	1.00[EUR][1000 genomes]
rs73290188	1.00[EUR][1000 genomes]
rs73290454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73296310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73297098	1.00[EUR][1000 genomes]
rs73298535	1.00[EUR][1000 genomes]
rs73300543	1.00[EUR][1000 genomes]
rs73301022	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73301040	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73302462	1.00[EUR][1000 genomes]
rs73679942	1.00[EUR][1000 genomes]
rs7791110	1.00[EUR][1000 genomes]
rs7809959	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv887629	chr7:12304555-12400837	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019021	chr7:12310445-12375516	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv887630	chr7:12323757-12400837	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1034059	chr7:12342549-12367818	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1029941	chr7:12351595-12444490	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv433030	chr7:12352210-12443042	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1034475	chr7:12352210-12444490	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1029098	chr7:12354108-12443042	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12351000-12367600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:12352200-12360600	Weak transcription	K562	blood
3	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:12354800-12364800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:12358000-12361800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:12360000-12362400	Enhancers	A549	lung
7	chr7:12360200-12361000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:12360400-12362400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:12360400-12367600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:12360400-12367800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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