Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16508192..16511548-chr11:16513536..16517052,6	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10832623	1.00[ASN][1000 genomes]
rs11023973	0.86[ASN][1000 genomes]
rs11023979	0.86[ASN][1000 genomes]
rs11023982	0.86[ASN][1000 genomes]
rs11512060	0.96[ASN][1000 genomes]
rs11529134	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11529589	1.00[ASN][1000 genomes]
rs12146438	0.96[ASN][1000 genomes]
rs12362867	0.90[ASN][1000 genomes]
rs12363505	0.96[ASN][1000 genomes]
rs1354329	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4576784	1.00[ASN][1000 genomes]
rs4622221	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639898	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56311489	0.96[ASN][1000 genomes]
rs67150549	1.00[ASN][1000 genomes]
rs72859415	0.86[ASN][1000 genomes]
rs72875213	0.86[ASN][1000 genomes]
rs72875217	0.86[ASN][1000 genomes]
rs7944185	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10832618	TPH1	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16461600-16510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:16495200-16510200	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:16497200-16516600	Weak transcription	Left Ventricle	heart
4	chr11:16506200-16509600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:16506200-16516200	Weak transcription	Right Ventricle	heart
6	chr11:16506200-16516400	Weak transcription	Psoas Muscle	Psoas
7	chr11:16506200-16517200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:16509000-16509800	Enhancers	Fetal Heart	heart
9	chr11:16509000-16510200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:16509200-16509400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:16509200-16509400	Enhancers	Pancreatic Islets	Pancreatic Islet

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