Variant report

Variant	rs59274950
Chromosome Location	chr9:26929385-26929386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:26912830..26914356-chr9:26927951..26929642,2	K562	blood:
2	chr9:26925546..26927989-chr9:26928581..26931029,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10967625	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12004732	0.85[ASN][1000 genomes]
rs12352441	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17693955	0.83[EUR][1000 genomes]
rs62542667	0.83[EUR][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];0.88[ASN][1000 genomes]
rs62544444	0.88[ASN][1000 genomes]
rs62544450	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62544451	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62544452	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7019692	0.95[ASN][1000 genomes]
rs7023230	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7035755	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7039400	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7045881	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73436047	0.81[EUR][1000 genomes]
rs7851339	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7851423	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7851582	0.86[AMR][1000 genomes];0.96[EUR][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
rs59274950	IFT74	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26893400-26936400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:26893400-26936400	Weak transcription	Psoas Muscle	Psoas
3	chr9:26900800-26930000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:26901200-26935800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:26902800-26936600	Weak transcription	Spleen	Spleen
6	chr9:26903000-26929800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:26903000-26935200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr9:26903200-26930000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:26903200-26932600	Strong transcription	Dnd41	blood
10	chr9:26903200-26935200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr9:26903800-26931600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:26904600-26935200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:26905400-26938200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:26905800-26937400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:26906200-26936600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr9:26911600-26930000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:26911600-26930000	Strong transcription	Placenta	Placenta
18	chr9:26912000-26932600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr9:26912800-26935000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr9:26913200-26932600	Strong transcription	Primary B cells from cord blood	blood
21	chr9:26914600-26930000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:26914600-26935600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:26915200-26929600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:26915200-26929600	Strong transcription	Liver	Liver
25	chr9:26915200-26930400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr9:26915400-26929600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:26915400-26930000	Strong transcription	Adipose Nuclei	Adipose
28	chr9:26915400-26930000	Strong transcription	HSMM	muscle
29	chr9:26915400-26930600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr9:26915400-26931200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr9:26915400-26931200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:26915400-26932000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:26915600-26929800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:26915600-26930000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr9:26915800-26930200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:26916000-26930000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr9:26916000-26930800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr9:26916800-26945200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:26917200-26936400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:26917200-26936600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:26918600-26929400	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr9:26920400-26937400	Weak transcription	Fetal Heart	heart
43	chr9:26921600-26934600	Weak transcription	Small Intestine	intestine
44	chr9:26925000-26930600	Weak transcription	Fetal Stomach	stomach
45	chr9:26925000-26936200	Weak transcription	Esophagus	oesophagus
46	chr9:26925000-26936400	Weak transcription	Gastric	stomach
47	chr9:26925000-26936600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:26925000-26936600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:26925000-26936600	Weak transcription	Lung	lung
50	chr9:26925600-26929600	Weak transcription	Fetal Brain Male	brain

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