Variant report

Variant	rs10812478
Chromosome Location	chr9:26837118-26837119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1011358	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10812480	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10812485	0.92[EUR][1000 genomes]
rs10967541	0.84[EUR][1000 genomes]
rs10967550	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10967560	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10967565	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10967566	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10967575	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12238317	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17760657	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2184739	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7018943	0.86[EUR][1000 genomes]
rs7871868	0.87[AMR][1000 genomes];0.85[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	nsv1026827	chr9:26693515-26904699	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3373096	chr9:26825001-26848031	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10812478	IFT74	cis	Thyroid	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26822200-26889400	Weak transcription	Psoas Muscle	Psoas
2	chr9:26822600-26846200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:26829000-26839400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:26829000-26839600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:26829000-26840200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr9:26829000-26840400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:26829200-26842200	Weak transcription	Left Ventricle	heart
8	chr9:26830200-26865400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:26832200-26866800	Weak transcription	Gastric	stomach
10	chr9:26832200-26878400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:26833000-26839600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr9:26833800-26842200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr9:26834000-26837800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:26834000-26839600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:26834000-26840800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:26834000-26882400	Weak transcription	HUVEC	blood vessel
17	chr9:26834200-26837800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:26834200-26837800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:26834200-26837800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:26834200-26838600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:26834200-26839600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:26834200-26840800	Weak transcription	Placenta	Placenta
23	chr9:26834200-26842000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:26834200-26842400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:26834200-26842400	Weak transcription	HSMM	muscle
26	chr9:26834200-26849800	Weak transcription	Fetal Thymus	thymus
27	chr9:26834200-26852800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr9:26834200-26852800	Weak transcription	HSMMtube	muscle
29	chr9:26834200-26853400	Weak transcription	Fetal Muscle Leg	muscle
30	chr9:26834200-26854800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr9:26834200-26855000	Weak transcription	Ovary	ovary
32	chr9:26834200-26858800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:26834200-26859000	Weak transcription	Fetal Kidney	kidney
34	chr9:26834200-26870600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:26834200-26878400	Weak transcription	Brain Angular Gyrus	brain
36	chr9:26834200-26878600	Weak transcription	Spleen	Spleen
37	chr9:26834200-26880200	Weak transcription	Lung	lung
38	chr9:26834200-26880200	Weak transcription	NHEK	skin
39	chr9:26834200-26882200	Weak transcription	HMEC	breast
40	chr9:26834200-26888200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr9:26834200-26891200	Weak transcription	NHDF-Ad	bronchial
42	chr9:26834400-26837400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr9:26834400-26840400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr9:26834400-26840600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr9:26834400-26854800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr9:26835800-26842200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr9:26836200-26837800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:26836200-26839400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:26836200-26839600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr9:26836200-26840400	Weak transcription	Adipose Nuclei	Adipose

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