Variant report

Variant	rs34394173
Chromosome Location	chr17:38352241-38352242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38349826..38352534-chr17:38443778..38445616,2	K562	blood:
2	chr17:38351055..38353066-chr17:38461738..38464698,2	K562	blood:
3	chr17:38348399..38350901-chr17:38351389..38353492,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000094804	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28786708	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35085163	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs45443194	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55673000	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56304903	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56357916	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7221536	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306870	0.91[AMR][1000 genomes];0.97[EUR][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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34394173	MSL1	cis	Nerve Tibial	GTEx
rs34394173	MSL1	cis	Thyroid	GTEx
rs34394173	MSL1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38348000-38353400	Weak transcription	Aorta	Aorta
2	chr17:38348200-38353200	Weak transcription	Thymus	Thymus
3	chr17:38348400-38354600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr17:38348400-38358200	Weak transcription	Adipose Nuclei	Adipose
5	chr17:38348400-38358400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:38348600-38358200	Weak transcription	HUVEC	blood vessel
7	chr17:38348600-38358200	Weak transcription	Osteobl	bone
8	chr17:38349800-38352400	Enhancers	Fetal Muscle Trunk	muscle
9	chr17:38350000-38357400	Weak transcription	Placenta	Placenta
10	chr17:38350200-38352400	Enhancers	Stomach Mucosa	stomach
11	chr17:38350200-38352400	Enhancers	HepG2	liver
12	chr17:38350200-38352600	Enhancers	HSMMtube	muscle
13	chr17:38350200-38354600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:38350200-38359400	Weak transcription	Colonic Mucosa	Colon
15	chr17:38350400-38352400	Enhancers	Fetal Muscle Leg	muscle
16	chr17:38350400-38358000	Weak transcription	Liver	Liver
17	chr17:38350400-38358200	Weak transcription	Brain Hippocampus Middle	brain
18	chr17:38350400-38358200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr17:38350400-38358600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr17:38350600-38352800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:38350800-38352400	Weak transcription	Gastric	stomach
22	chr17:38350800-38359400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr17:38350800-38359400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr17:38351400-38354600	Weak transcription	A549	lung
25	chr17:38351800-38354600	Weak transcription	Spleen	Spleen

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