Variant report

Variant	rs194018
Chromosome Location	chr5:106781576-106781577
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs520447	1.00[ASW][hapmap];0.89[LWK][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs634535	1.00[YRI][hapmap];0.98[AFR][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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs194018	STK17B	trans	lymphoblastoid	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106758600-106785000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:106772600-106790800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:106773200-106782800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:106774600-106785000	Weak transcription	Fetal Lung	lung
5	chr5:106774600-106790600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:106775400-106781600	Weak transcription	Aorta	Aorta
7	chr5:106777200-106786000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:106777400-106790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:106777600-106782600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:106777800-106783000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:106779200-106782600	Weak transcription	A549	lung
12	chr5:106779200-106784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:106779400-106790400	Weak transcription	HSMM	muscle
14	chr5:106780000-106782600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:106780000-106785000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:106780200-106786000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:106780400-106785400	Weak transcription	Fetal Heart	heart
18	chr5:106780400-106785600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:106780600-106782600	Weak transcription	Fetal Stomach	stomach
20	chr5:106780600-106782800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:106781000-106782000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:106781200-106781800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:106781200-106781800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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