Variant report

Variant	rs17181222
Chromosome Location	chr4:57900450-57900451
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	chr4:57893930..57897148-chr4:57898459..57902264,3	K562	blood:
2	chr4:57898269..57900679-chr4:57902377..57904496,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10002269	0.87[EUR][1000 genomes]
rs10018580	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs10018619	0.84[EUR][1000 genomes]
rs10033214	0.87[EUR][1000 genomes]
rs10034163	0.83[EUR][1000 genomes]
rs11133472	0.87[YRI][hapmap]
rs11573115	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs11930475	0.91[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11932673	0.88[TSI][hapmap]
rs11940411	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11947717	0.83[EUR][1000 genomes]
rs13133792	0.91[CEU][hapmap];0.88[GIH][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs13145285	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17087332	0.91[CEU][hapmap];1.00[TSI][hapmap]
rs17087382	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs34749389	0.83[EUR][1000 genomes]
rs34998461	0.82[EUR][1000 genomes]
rs35706166	0.83[EUR][1000 genomes]
rs35725527	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71601672	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7440152	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7659855	0.87[EUR][1000 genomes]
rs7684271	0.90[EUR][1000 genomes]
rs9991234	0.83[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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17181222	IFNGR1	trans	lymphoblastoid	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57863400-57907800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:57889000-57910200	Weak transcription	Esophagus	oesophagus
3	chr4:57890000-57903000	Strong transcription	HSMM	muscle
4	chr4:57890200-57901000	Strong transcription	NH-A	brain
5	chr4:57890400-57900600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:57890400-57903600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:57890400-57905600	Strong transcription	Osteobl	bone
8	chr4:57891400-57900800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:57892000-57900600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:57892000-57901200	Weak transcription	Small Intestine	intestine
11	chr4:57892000-57904400	Weak transcription	Fetal Heart	heart
12	chr4:57892000-57906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:57892000-57908200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:57892200-57908000	Weak transcription	Pancreas	Pancrea
15	chr4:57893600-57900800	Weak transcription	Gastric	stomach
16	chr4:57893800-57906600	Weak transcription	Spleen	Spleen
17	chr4:57893800-57908000	Weak transcription	Aorta	Aorta
18	chr4:57894800-57904400	Weak transcription	Hela-S3	cervix
19	chr4:57895000-57901400	Weak transcription	Stomach Mucosa	stomach
20	chr4:57895800-57901000	Strong transcription	Left Ventricle	heart
21	chr4:57896600-57904200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:57896600-57905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:57896800-57909200	Weak transcription	Psoas Muscle	Psoas
24	chr4:57897200-57901400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:57897200-57904000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:57897800-57901000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:57897800-57901200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:57897800-57904200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:57897800-57904400	Weak transcription	K562	blood
30	chr4:57898000-57901000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:57898000-57904400	Weak transcription	Brain Germinal Matrix	brain
32	chr4:57898000-57905400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:57898000-57909800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:57898200-57900800	Weak transcription	Thymus	Thymus
35	chr4:57898200-57901400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr4:57898200-57904000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:57898200-57904000	Weak transcription	Brain Angular Gyrus	brain
38	chr4:57898200-57904400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr4:57898200-57904400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:57898200-57908000	Weak transcription	Fetal Lung	lung
41	chr4:57898200-57910000	Weak transcription	Lung	lung
42	chr4:57898400-57901600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:57898400-57904400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:57898400-57905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:57898400-57906800	Weak transcription	Colonic Mucosa	Colon
46	chr4:57898600-57900600	Weak transcription	Dnd41	blood
47	chr4:57898600-57901200	Weak transcription	Primary B cells from cord blood	blood
48	chr4:57898800-57900600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr4:57898800-57904200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:57898800-57904400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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