Variant report

Variant	rs4743866
Chromosome Location	chr9:94986357-94986358
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94902047..94904431-chr9:94985337..94988222,2	MCF-7	breast:
2	chr9:94983419..94986395-chr9:94989687..94991728,4	K562	blood:
3	chr9:94901380..94903778-chr9:94985636..94987249,2	K562	blood:

Variant related genes	Relation type
ENSG00000225511	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1058726	0.87[CEU][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs1058751	0.87[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1175923	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1175930	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1175931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787696	0.86[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11788610	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789578	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11791931	0.81[CEU][hapmap]
rs11792542	0.87[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11793505	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2084289	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2295939	0.87[CEU][hapmap]
rs2761680	0.81[CEU][hapmap]
rs3894058	0.87[CEU][hapmap];0.81[MEX][hapmap]
rs41280213	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs41280215	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs472163	0.93[CEU][hapmap];0.85[LWK][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4743867	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4743868	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4744124	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4744125	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs501814	0.87[CEU][hapmap];0.81[MEX][hapmap];0.82[EUR][1000 genomes]
rs556155	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs557066	0.87[CEU][hapmap]
rs55894730	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56374228	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72748400	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748402	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895639	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9409464	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9409465	0.87[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9409466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9409467	0.87[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9409469	0.87[CEU][hapmap];0.81[MEX][hapmap]
rs9409659	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9409660	0.87[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9409661	0.87[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9409662	1.00[AFR][1000 genomes]
rs9409663	1.00[AFR][1000 genomes]
rs9409665	0.87[CEU][hapmap];0.81[MEX][hapmap]
rs944949	0.81[CEU][hapmap];0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4743866	IARS	cis	multi-tissue	Pritchard
rs4743866	ANKRD19	cis	cerebellum	SCAN
rs4743866	ANKRD19	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94973800-94990400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:94974000-94999000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:94982800-94986400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:94982800-94986400	Strong transcription	Brain Hippocampus Middle	brain
5	chr9:94982800-94986600	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr9:94982800-94986800	Strong transcription	Small Intestine	intestine
7	chr9:94982800-94987400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:94982800-94988200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:94982800-94988400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:94982800-94988400	Strong transcription	Aorta	Aorta
11	chr9:94982800-94988400	Strong transcription	Esophagus	oesophagus
12	chr9:94982800-94988400	Strong transcription	Pancreas	Pancrea
13	chr9:94982800-94988600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:94982800-94988600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:94982800-94988600	Strong transcription	Adipose Nuclei	Adipose
16	chr9:94982800-94988600	Strong transcription	Fetal Lung	lung
17	chr9:94982800-94988600	Strong transcription	HMEC	breast
18	chr9:94982800-94988800	Strong transcription	Primary hematopoietic stem cells	blood
19	chr9:94982800-94988800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:94982800-94988800	Strong transcription	A549	lung
21	chr9:94982800-94988800	Strong transcription	HSMM	muscle
22	chr9:94982800-94989000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:94982800-94989000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:94982800-94989000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:94982800-94989000	Strong transcription	Primary T cells from cord blood	blood
26	chr9:94982800-94989000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr9:94982800-94989000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr9:94982800-94989000	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr9:94982800-94989000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr9:94982800-94989000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:94982800-94989000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr9:94982800-94989000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:94982800-94989000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:94982800-94989000	Strong transcription	Brain Angular Gyrus	brain
35	chr9:94982800-94989000	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr9:94982800-94989000	Strong transcription	Fetal Brain Female	brain
37	chr9:94982800-94989000	Strong transcription	Placenta	Placenta
38	chr9:94982800-94989000	Strong transcription	Gastric	stomach
39	chr9:94982800-94989000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr9:94982800-94989000	Strong transcription	Rectal Smooth Muscle	rectum
41	chr9:94982800-94989000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr9:94982800-94989000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr9:94982800-94989000	Strong transcription	Dnd41	blood
44	chr9:94982800-94989000	Strong transcription	Hela-S3	cervix
45	chr9:94982800-94989000	Strong transcription	HSMMtube	muscle
46	chr9:94982800-94989000	Strong transcription	HUVEC	blood vessel
47	chr9:94982800-94989000	Strong transcription	K562	blood
48	chr9:94982800-94989000	Strong transcription	NHEK	skin
49	chr9:94982800-94989000	Strong transcription	Osteobl	bone
50	chr9:94982800-94989200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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