Variant report

Variant	rs226422
Chromosome Location	chr17:34061659-34061660
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:34061219-34061824	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr17:34061008-34061709	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34058248..34060663-chr17:34061647..34063721,2	K562	blood:

Variant related genes	Relation type
RASL10B	TF binding region
ENSG00000141150	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs178940	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs226420	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs226421	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs226422	RASL10B	cis	Thyroid	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34058600-34064600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr17:34059400-34062000	Weak transcription	Gastric	stomach
3	chr17:34059600-34067200	Weak transcription	Spleen	Spleen
4	chr17:34059600-34068000	Weak transcription	Right Ventricle	heart
5	chr17:34059800-34061800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:34059800-34061800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr17:34059800-34063400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr17:34059800-34065000	Weak transcription	Brain Hippocampus Middle	brain
9	chr17:34060000-34062400	Weak transcription	Lung	lung
10	chr17:34060000-34064400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:34060000-34065200	Weak transcription	Brain Anterior Caudate	brain
12	chr17:34060000-34065600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:34060000-34065800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:34060000-34068000	Weak transcription	Right Atrium	heart
15	chr17:34060400-34061800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr17:34060400-34062800	Weak transcription	Fetal Intestine Small	intestine
17	chr17:34060400-34068000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr17:34060600-34067400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:34060800-34067400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr17:34061000-34063400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:34061400-34062400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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