Variant report

Variant	rs12686294
Chromosome Location	chr9:117413995-117413996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:117271782..117274012-chr9:117413112..117416014,2	K562	blood:
2	chr9:117404171..117406962-chr9:117412066..117415850,4	MCF-7	breast:
3	chr9:117365751..117367397-chr9:117413261..117416032,2	MCF-7	breast:
4	chr9:117166333..117168560-chr9:117411610..117414553,2	K562	blood:
5	chr9:117372175..117375270-chr9:117412558..117416382,3	K562	blood:
6	chr9:117373194..117375222-chr9:117413423..117416291,4	MCF-7	breast:
7	chr9:117369621..117371913-chr9:117413297..117415395,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157693	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1055110	0.82[ASN][1000 genomes]
rs1058278	0.86[ASN][1000 genomes]
rs1058280	0.81[ASN][1000 genomes]
rs1075371	0.80[EUR][1000 genomes]
rs10759728	0.86[ASN][1000 genomes]
rs10759729	0.86[ASN][1000 genomes]
rs10817652	0.86[ASN][1000 genomes]
rs10817653	0.86[ASN][1000 genomes]
rs10817654	0.86[ASN][1000 genomes]
rs10817656	0.86[ASN][1000 genomes]
rs10817659	0.84[ASN][1000 genomes]
rs10817660	0.84[ASN][1000 genomes]
rs10817661	0.84[ASN][1000 genomes]
rs10982343	0.95[ASN][1000 genomes]
rs10982344	0.95[ASN][1000 genomes]
rs10982345	0.95[ASN][1000 genomes]
rs10982346	0.95[ASN][1000 genomes]
rs10982347	0.95[ASN][1000 genomes]
rs10982351	0.86[ASN][1000 genomes]
rs10982353	0.86[ASN][1000 genomes]
rs10982354	0.86[ASN][1000 genomes]
rs10982355	0.86[ASN][1000 genomes]
rs10982358	0.84[ASN][1000 genomes]
rs10982361	0.84[ASN][1000 genomes]
rs10982362	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12004578	0.94[ASN][1000 genomes]
rs12683400	0.83[EUR][1000 genomes]
rs12684218	0.80[EUR][1000 genomes]
rs16930445	0.99[ASN][1000 genomes]
rs16930792	0.80[EUR][1000 genomes]
rs16930991	0.80[EUR][1000 genomes]
rs1811141	0.90[ASN][1000 genomes]
rs1887784	0.82[ASN][1000 genomes]
rs2183018	0.86[ASN][1000 genomes]
rs2274598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2282002	0.89[EUR][1000 genomes]
rs34202085	0.86[ASN][1000 genomes]
rs34376344	0.84[ASN][1000 genomes]
rs3810935	0.95[ASN][1000 genomes]
rs4978604	0.86[EUR][1000 genomes]
rs56765969	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57814945	0.80[EUR][1000 genomes]
rs58007505	0.80[EUR][1000 genomes]
rs59422754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59962384	0.95[ASN][1000 genomes]
rs60387901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60862773	0.89[EUR][1000 genomes]
rs62579685	0.84[ASN][1000 genomes]
rs62579686	0.86[ASN][1000 genomes]
rs62579731	0.85[ASN][1000 genomes]
rs7027937	0.86[ASN][1000 genomes]
rs7041824	0.86[ASN][1000 genomes]
rs752858	0.84[ASN][1000 genomes]
rs756015	0.99[ASN][1000 genomes]
rs7855505	0.95[ASN][1000 genomes]
rs7857127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7857224	0.86[ASN][1000 genomes]
rs7866902	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870135	0.99[ASN][1000 genomes]
rs7875692	0.80[EUR][1000 genomes]
rs9775036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9775038	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9775041	0.80[ASN][1000 genomes]
rs9775854	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051544	chr9:116944940-117443031	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
2	nsv540203	chr9:116944940-117443031	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv1048093	chr9:116945025-117456210	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv1050991	chr9:116953739-117442999	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1046311	chr9:116953739-117447142	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
6	nsv1052877	chr9:116953739-117456210	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv1039681	chr9:116953739-117457158	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
8	nsv1051987	chr9:116955841-117453668	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
9	nsv1044374	chr9:116955841-117460150	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
10	nsv466534	chr9:116956268-117455810	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
11	nsv615234	chr9:116956268-117455810	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
12	nsv1048817	chr9:116957958-117456210	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
13	nsv615236	chr9:116958144-117455810	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
14	nsv466535	chr9:116958144-117456175	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
15	nsv615237	chr9:116958144-117456175	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv615238	chr9:116958144-117458475	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
17	nsv430094	chr9:116958446-117456446	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
18	nsv1053756	chr9:116975934-117443031	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
19	nsv540204	chr9:116975934-117443031	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
20	nsv530951	chr9:117032675-117439804	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
21	nsv831694	chr9:117328640-117502785	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
22	nsv893766	chr9:117385992-117516418	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv615249	chr9:117394595-117424855	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117375800-117415600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:117376200-117415600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr9:117382000-117415000	Weak transcription	Fetal Kidney	kidney
4	chr9:117385000-117415600	Weak transcription	NH-A	brain
5	chr9:117390400-117415200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:117391200-117415600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:117392200-117415600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr9:117393800-117415600	Weak transcription	HSMM	muscle
9	chr9:117394000-117415600	Weak transcription	Hela-S3	cervix
10	chr9:117394600-117415000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:117396400-117415600	Weak transcription	HMEC	breast
12	chr9:117396600-117415600	Weak transcription	K562	blood
13	chr9:117397000-117414600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr9:117397000-117415600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr9:117397200-117415000	Weak transcription	NHEK	skin
16	chr9:117397200-117415600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr9:117397200-117415600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr9:117399200-117415600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:117401000-117414600	Weak transcription	NHDF-Ad	bronchial
20	chr9:117401000-117415600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr9:117405800-117423800	Weak transcription	Fetal Intestine Small	intestine
22	chr9:117406200-117415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:117406200-117415600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:117406600-117415600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr9:117406600-117415800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr9:117406800-117414800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:117406800-117415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:117406800-117415800	Weak transcription	A549	lung
29	chr9:117406800-117419600	Weak transcription	Pancreas	Pancrea
30	chr9:117407000-117414600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr9:117407000-117414600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:117407000-117414800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:117407000-117415000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:117407000-117418200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr9:117407000-117423200	Weak transcription	Fetal Brain Female	brain
36	chr9:117407000-117423400	Weak transcription	Ovary	ovary
37	chr9:117407800-117414400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr9:117407800-117414600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr9:117407800-117415600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:117407800-117415600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:117407800-117415600	Weak transcription	Brain Hippocampus Middle	brain
42	chr9:117407800-117415600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr9:117407800-117415600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:117407800-117415600	Weak transcription	Brain Substantia Nigra	brain
45	chr9:117407800-117415600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr9:117407800-117415600	Weak transcription	Thymus	Thymus
47	chr9:117407800-117416000	Weak transcription	HepG2	liver
48	chr9:117407800-117420600	Weak transcription	Spleen	Spleen
49	chr9:117408000-117415600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:117408000-117415600	Weak transcription	Adipose Nuclei	Adipose

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