Variant report

Variant	rs12238713
Chromosome Location	chr9:116759865-116759866
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10759677	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2025391	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7030167	0.86[CHB][hapmap]
rs7041360	0.93[CHB][hapmap];0.84[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	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12238713	AKNA	cis	multi-tissue	Pritchard

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116732200-116768800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:116732200-116773400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:116732600-116762600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr9:116733000-116768600	Weak transcription	Fetal Kidney	kidney
5	chr9:116733400-116800200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:116736400-116783000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:116751000-116773400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr9:116752000-116764600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:116752200-116760000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:116752200-116764200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:116752400-116762000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:116752800-116762600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:116753600-116764000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:116753600-116764000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:116753600-116764600	Weak transcription	A549	lung
16	chr9:116754200-116762200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:116754400-116760000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:116755400-116768000	Weak transcription	HSMM	muscle
19	chr9:116756200-116773800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr9:116756400-116775600	Weak transcription	Primary B cells from cord blood	blood
21	chr9:116756600-116762000	Weak transcription	NHDF-Ad	bronchial
22	chr9:116756600-116764200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr9:116756600-116765600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:116756600-116766400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr9:116756800-116760000	Weak transcription	Ovary	ovary
26	chr9:116756800-116760800	Weak transcription	Gastric	stomach
27	chr9:116756800-116761800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr9:116756800-116762000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:116756800-116762800	Weak transcription	NHEK	skin
30	chr9:116756800-116765000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr9:116756800-116765200	Weak transcription	NH-A	brain
32	chr9:116756800-116765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:116756800-116768000	Weak transcription	Thymus	Thymus
34	chr9:116756800-116768800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:116756800-116779000	Weak transcription	Esophagus	oesophagus
36	chr9:116756800-116783800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:116757000-116760000	Weak transcription	Adipose Nuclei	Adipose
38	chr9:116757000-116760000	Weak transcription	Right Atrium	heart
39	chr9:116757000-116760400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr9:116757000-116760800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:116757000-116760800	Weak transcription	NHLF	lung
42	chr9:116757000-116761000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr9:116757000-116761200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:116757000-116761200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:116757000-116761200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr9:116757000-116761600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:116757000-116761800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr9:116757000-116761800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr9:116757000-116761800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr9:116757000-116761800	Weak transcription	Osteobl	bone

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