Variant report

Variant	rs17027163
Chromosome Location	chr2:86588234-86588235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86581305..86583183-chr2:86585402..86588374,2	K562	blood:
2	chr2:86557932..86559986-chr2:86586521..86589056,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13405197	1.00[CEU][hapmap]
rs17027169	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55896146	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56194753	0.89[EUR][1000 genomes]
rs56233501	0.82[EUR][1000 genomes]
rs61629709	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6728272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72926457	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72926466	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72926475	0.96[AMR][1000 genomes];0.93[EUR][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17027163	MRPL35	cis	parietal	SCAN
rs17027163	VPS24	Cis_1M	lymphoblastoid	RTeQTL
rs17027163	VPS24	cis	parietal	SCAN
rs17027163	THNSL2	cis	parietal	SCAN
rs17027163	RMND5A	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86587400-86589000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:86587600-86588400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:86587600-86588600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:86587600-86588800	Enhancers	Fetal Intestine Large	intestine
5	chr2:86587800-86588400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:86587800-86588400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:86587800-86588400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:86587800-86588400	Enhancers	Brain Germinal Matrix	brain
9	chr2:86587800-86588400	Enhancers	Brain Hippocampus Middle	brain
10	chr2:86587800-86588400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:86587800-86588600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:86587800-86588600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:86587800-86588600	Enhancers	Fetal Brain Male	brain
14	chr2:86587800-86588600	Enhancers	Fetal Intestine Small	intestine
15	chr2:86587800-86588600	Enhancers	Pancreas	Pancrea
16	chr2:86587800-86588800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:86588000-86588400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:86588000-86588400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:86588000-86588400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:86588000-86588400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:86588000-86588400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:86588000-86588400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr2:86588000-86588400	Enhancers	Stomach Smooth Muscle	stomach
24	chr2:86588000-86588600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:86588000-86588800	Enhancers	Fetal Brain Female	brain
26	chr2:86588000-86588800	Enhancers	Fetal Muscle Leg	muscle
27	chr2:86588000-86588800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:86588200-86588600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:86588200-86588800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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