Variant report

Variant	rs9409663
Chromosome Location	chr9:95009078-95009079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:95008559-95009094	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr9:95003920-95010830	K562	blood:	n/a	n/a
3	POLR2A	chr9:95008872-95009103	K562	blood:	n/a	n/a
4	POLR2A	chr9:95008872-95009096	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:95007723..95009563-chr9:95039605..95041359,2	K562	blood:
2	chr9:95008547..95010215-chr9:95057171..95060144,2	K562	blood:
3	chr9:95008635..95010246-chr9:95036891..95039178,2	K562	blood:
4	chr9:95007689..95009235-chr9:95012791..95014544,2	MCF-7	breast:

Variant related genes	Relation type
IARS	TF binding region
ENSG00000196305	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1058726	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1058751	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1175923	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1175929	0.89[AMR][1000 genomes]
rs1175930	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1175931	0.84[AFR][1000 genomes]
rs11787696	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11788610	0.83[AFR][1000 genomes]
rs11789578	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11792542	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11793505	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2084289	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295939	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41280213	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41280215	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs472163	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4743866	1.00[AFR][1000 genomes]
rs4743867	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4743868	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4743871	0.81[ASN][1000 genomes]
rs4744124	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4744125	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs501814	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs556155	1.00[AFR][1000 genomes]
rs557066	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55894730	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56374228	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748400	0.92[AFR][1000 genomes]
rs72748402	0.92[AFR][1000 genomes]
rs895639	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9409464	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9409465	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9409466	1.00[AFR][1000 genomes]
rs9409467	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9409469	0.81[ASN][1000 genomes]
rs9409659	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9409660	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9409661	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9409662	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9409665	0.81[ASN][1000 genomes]
rs9409666	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv972780	chr9:95008644-95049016	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94982800-95038400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:94982800-95045600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:94984000-95012400	Weak transcription	Stomach Mucosa	stomach
4	chr9:94990200-95054000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:94990400-95038200	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr9:94991200-95038400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:94991200-95052400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:94991200-95053600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:94991400-95050400	Strong transcription	Dnd41	blood
10	chr9:94991400-95052400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:94991400-95053600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:94991400-95053800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:94991400-95053800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr9:94991800-95053800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr9:94991800-95054000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:94994000-95053000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:94994200-95038000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr9:94994400-95038600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr9:94994600-95010800	Strong transcription	K562	blood
20	chr9:94994600-95051200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr9:94995600-95038000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr9:94995600-95038600	Strong transcription	Primary T cells from cord blood	blood
23	chr9:94996000-95009800	Strong transcription	Fetal Intestine Small	intestine
24	chr9:94996000-95048600	Strong transcription	Fetal Stomach	stomach
25	chr9:94996200-95051400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr9:94996200-95051400	Strong transcription	Fetal Thymus	thymus
27	chr9:94996200-95052000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr9:94996400-95051400	Strong transcription	Fetal Muscle Leg	muscle
29	chr9:94996400-95052000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr9:94996600-95009800	Strong transcription	A549	lung
31	chr9:94996600-95011200	Strong transcription	GM12878-XiMat	blood
32	chr9:94996600-95035000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:94996600-95038400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr9:94996800-95014200	Strong transcription	Hela-S3	cervix
35	chr9:94996800-95037400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr9:94996800-95038200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr9:94996800-95042600	Strong transcription	Fetal Brain Female	brain
38	chr9:94997000-95042800	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr9:94998600-95011000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr9:94998600-95042800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:94998600-95050600	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr9:94998600-95051200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr9:94998600-95051600	Strong transcription	Adipose Nuclei	Adipose
44	chr9:94998800-95010600	Strong transcription	Ovary	ovary
45	chr9:94998800-95045000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr9:94998800-95048000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr9:94998800-95049600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr9:94998800-95050200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:94998800-95051400	Strong transcription	Fetal Intestine Large	intestine
50	chr9:94999000-95027400	Strong transcription	Fetal Lung	lung

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