Variant report

Variant	rs17081847
Chromosome Location	chr9:72080989-72080990
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12115441	1.00[YRI][hapmap]
rs17064043	1.00[ASW][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs869150	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1048650	chr9:72028458-72179847	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1052872	chr9:72040184-72081554	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037109	chr9:72040184-72120270	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1039966	chr9:72057304-72181564	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv430067	chr9:72080989-72116806	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17081847	ARRDC5	trans	lymphoblastoid	seeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72036600-72082600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:72044200-72084400	Weak transcription	Fetal Intestine Small	intestine
3	chr9:72045000-72084400	Weak transcription	Fetal Intestine Large	intestine
4	chr9:72046400-72085600	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:72047000-72081800	Weak transcription	Fetal Kidney	kidney
6	chr9:72056000-72082600	Weak transcription	Pancreas	Pancrea
7	chr9:72064600-72084200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:72064600-72084200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:72064800-72083800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:72066200-72081000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:72070600-72081000	Weak transcription	Brain Substantia Nigra	brain
12	chr9:72070800-72085600	Weak transcription	Gastric	stomach
13	chr9:72072400-72084000	Weak transcription	Fetal Heart	heart
14	chr9:72075200-72081200	Weak transcription	Fetal Lung	lung
15	chr9:72075600-72081200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:72077200-72086800	Weak transcription	Fetal Brain Male	brain
17	chr9:72077400-72081400	Weak transcription	Brain Anterior Caudate	brain
18	chr9:72077800-72082600	Weak transcription	Aorta	Aorta
19	chr9:72078400-72081400	Enhancers	Liver	Liver
20	chr9:72078400-72084000	Weak transcription	Placenta	Placenta
21	chr9:72079000-72081000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:72079000-72084000	Weak transcription	HUVEC	blood vessel
23	chr9:72079000-72086400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr9:72079000-72091600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:72079200-72086200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:72079600-72082200	Strong transcription	Fetal Stomach	stomach
27	chr9:72079600-72083000	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr9:72079800-72082400	Strong transcription	Spleen	Spleen
29	chr9:72079800-72082800	Strong transcription	Brain Germinal Matrix	brain
30	chr9:72079800-72085000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr9:72080000-72081000	Enhancers	Adipose Nuclei	Adipose
32	chr9:72080000-72081200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:72080000-72081600	Enhancers	Ovary	ovary
34	chr9:72080000-72083000	Strong transcription	Brain Cingulate Gyrus	brain
35	chr9:72080200-72081200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:72080200-72081400	Enhancers	Right Atrium	heart
37	chr9:72080200-72081400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr9:72080200-72081400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr9:72080200-72083200	Strong transcription	Brain Angular Gyrus	brain
40	chr9:72080400-72081200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:72080400-72081400	Genic enhancers	Stomach Smooth Muscle	stomach
42	chr9:72080400-72082400	Strong transcription	Brain Hippocampus Middle	brain
43	chr9:72080400-72089400	Weak transcription	Fetal Thymus	thymus
44	chr9:72080600-72081400	Enhancers	Left Ventricle	heart
45	chr9:72080600-72081800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:72080600-72081800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr9:72080600-72082600	Strong transcription	Fetal Brain Female	brain
48	chr9:72080800-72081200	Enhancers	Fetal Muscle Trunk	muscle
49	chr9:72080800-72081400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:72080800-72081600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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