Variant report

Variant	rs10705
Chromosome Location	chr5:94994339-94994340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
2	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
3	chr5:94994068..94996717-chr5:95081434..95083739,2	K562	blood:
4	chr5:94993968..94995488-chr5:95034185..95036267,2	K562	blood:

Variant related genes	Relation type
ENSG00000250240	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000145757	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs150543	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17211585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10705	ARSK	cis	Nerve Tibial	GTEx
rs10705	RHOBTB3	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94983200-95005000	Weak transcription	Left Ventricle	heart
2	chr5:94983400-95005000	Weak transcription	Placenta	Placenta
3	chr5:94983600-94999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:94983600-95000000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:94983600-95000000	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:94983600-95000200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:94983600-95005000	Weak transcription	Adipose Nuclei	Adipose
8	chr5:94983800-94999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:94983800-94999800	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:94983800-95000000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:94983800-95004800	Weak transcription	Psoas Muscle	Psoas
12	chr5:94984200-94999800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:94984200-94999800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:94984200-95007800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:94984600-94999800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:94989000-95004800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:94989200-94999800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:94989400-94995800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:94990400-95000200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:94991200-94996200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:94991200-94996200	Strong transcription	K562	blood
22	chr5:94991600-95002400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:94991600-95005600	Weak transcription	Fetal Lung	lung
24	chr5:94991800-94999800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:94992000-94994400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:94992000-94995600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:94992000-95004600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:94992200-94999800	Weak transcription	Primary T cells from cord blood	blood
29	chr5:94992800-94997800	Weak transcription	Fetal Thymus	thymus
30	chr5:94993600-94994400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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