Variant report

Variant	rs1950701
Chromosome Location	chr14:33040718-33040719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10135025	0.93[CHB][hapmap];0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs12432041	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12435734	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1956209	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144912	0.94[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][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	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1950701	ARHGAP5-AS1	cis	lung	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33028600-33041200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:33028800-33041000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr14:33034400-33040800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:33034400-33058200	Weak transcription	Psoas Muscle	Psoas
5	chr14:33034800-33042000	Weak transcription	Left Ventricle	heart
6	chr14:33035000-33045600	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:33035000-33045600	Weak transcription	HSMMtube	muscle
8	chr14:33035200-33041200	Weak transcription	Right Ventricle	heart
9	chr14:33035200-33041200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:33035400-33062600	Weak transcription	Aorta	Aorta
11	chr14:33037000-33045600	Weak transcription	Brain Angular Gyrus	brain
12	chr14:33037200-33041000	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:33037200-33041800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:33037200-33042000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:33037200-33042200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:33037400-33040800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:33037400-33040800	Weak transcription	Fetal Intestine Small	intestine
18	chr14:33037400-33041000	Weak transcription	Fetal Heart	heart
19	chr14:33037400-33041200	Weak transcription	Brain Substantia Nigra	brain
20	chr14:33037400-33041200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:33037400-33041600	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:33037400-33041600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:33037600-33041600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:33037600-33045600	Weak transcription	Brain Anterior Caudate	brain
25	chr14:33038000-33041200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:33039800-33040800	Enhancers	Liver	Liver
27	chr14:33040600-33042000	Enhancers	Fetal Intestine Large	intestine

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