Variant report

Variant	rs7023230
Chromosome Location	chr9:26937268-26937269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:26934470..26938073-chr9:26945974..26949391,4	K562	blood:
2	chr9:26934470..26938073-chr9:26945974..26949091,3	K562	blood:
3	chr9:26891082..26893488-chr9:26933500..26937576,3	MCF-7	breast:
4	chr9:26936727..26938858-chr9:26946550..26949480,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120159	Chromatin interaction
ENSG00000137055	Chromatin interaction
ENSG00000096872	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10967625	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12004732	0.97[ASN][1000 genomes]
rs12352441	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17693955	0.83[EUR][1000 genomes]
rs2184740	0.97[AFR][1000 genomes]
rs59274950	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62542667	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62542672	0.82[AMR][1000 genomes]
rs62544361	0.83[EUR][1000 genomes]
rs62544362	0.83[EUR][1000 genomes]
rs62544443	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62544444	1.00[ASN][1000 genomes]
rs62544450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62544451	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62544452	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7019692	0.84[ASN][1000 genomes]
rs7035755	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7039400	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7045881	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73436047	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7851339	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851423	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7851582	0.96[EUR][1000 genomes]
rs7866718	0.88[ASN][1000 genomes]
rs7872881	0.91[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	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7023230	IFT74	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26905400-26938200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:26905800-26937400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:26916800-26945200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:26920400-26937400	Weak transcription	Fetal Heart	heart
5	chr9:26925800-26945200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:26926000-26937600	Weak transcription	Brain Germinal Matrix	brain
7	chr9:26926000-26945200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:26926000-26945200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:26926000-26945400	Weak transcription	HSMMtube	muscle
10	chr9:26926600-26937400	Weak transcription	Fetal Lung	lung
11	chr9:26926600-26937800	Weak transcription	Brain Anterior Caudate	brain
12	chr9:26926600-26941600	Weak transcription	HepG2	liver
13	chr9:26926600-26944200	Weak transcription	NHEK	skin
14	chr9:26926600-26945600	Weak transcription	Fetal Kidney	kidney
15	chr9:26927400-26937800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:26927400-26943800	Weak transcription	Pancreas	Pancrea
17	chr9:26927400-26945600	Weak transcription	Fetal Thymus	thymus
18	chr9:26927800-26937800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:26927800-26945600	Weak transcription	Colonic Mucosa	Colon
20	chr9:26928000-26937400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr9:26928400-26937400	Weak transcription	Fetal Intestine Large	intestine
22	chr9:26928400-26938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:26928400-26940200	Weak transcription	HUVEC	blood vessel
24	chr9:26928400-26941000	Weak transcription	Thymus	Thymus
25	chr9:26928400-26945200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr9:26928400-26945400	Weak transcription	NH-A	brain
27	chr9:26928600-26937800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:26928600-26938200	Weak transcription	NHDF-Ad	bronchial
29	chr9:26928600-26943600	Weak transcription	NHLF	lung
30	chr9:26928600-26945000	Weak transcription	Osteobl	bone
31	chr9:26928600-26945600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:26928800-26943800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:26928800-26944400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr9:26928800-26944600	Weak transcription	HMEC	breast
35	chr9:26929400-26937800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr9:26929600-26937800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:26930000-26937600	Weak transcription	Adipose Nuclei	Adipose
38	chr9:26930000-26937800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr9:26930000-26937800	Weak transcription	HSMM	muscle
40	chr9:26930200-26940400	Weak transcription	Primary T cells from cord blood	blood
41	chr9:26930600-26937800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr9:26932200-26937400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:26932400-26945400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr9:26932600-26937400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:26932600-26937400	Weak transcription	A549	lung
46	chr9:26932600-26937800	Weak transcription	Primary B cells from cord blood	blood
47	chr9:26932800-26937800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr9:26932800-26939800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr9:26933000-26937600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:26933000-26940200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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