Variant report

Variant	rs12005760
Chromosome Location	chr9:117409060-117409061
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117396596..117398845-chr9:117406428..117410113,3	K562	blood:
2	chr9:117199245..117201685-chr9:117407559..117409264,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11999346	1.00[EUR][1000 genomes]
rs16930568	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16930654	1.00[EUR][1000 genomes]
rs60476355	1.00[EUR][1000 genomes]
rs61519414	1.00[EUR][1000 genomes]
rs73656160	1.00[EUR][1000 genomes]
rs73656161	1.00[EUR][1000 genomes]
rs73656162	1.00[EUR][1000 genomes]
rs73656191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73656192	1.00[EUR][1000 genomes]
rs73656193	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73656194	1.00[EUR][1000 genomes]
rs7849811	1.00[EUR][1000 genomes]
rs7850846	1.00[EUR][1000 genomes]
rs7859926	1.00[EUR][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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117375000-117410400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:117375800-117409200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:117375800-117415600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:117376200-117415600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:117379400-117409600	Strong transcription	Dnd41	blood
6	chr9:117380600-117409200	Strong transcription	Primary T cells from cord blood	blood
7	chr9:117382000-117415000	Weak transcription	Fetal Kidney	kidney
8	chr9:117385000-117415600	Weak transcription	NH-A	brain
9	chr9:117390400-117415200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:117391200-117415600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr9:117392200-117415600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr9:117393800-117415600	Weak transcription	HSMM	muscle
13	chr9:117394000-117415600	Weak transcription	Hela-S3	cervix
14	chr9:117394600-117415000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:117396400-117415600	Weak transcription	HMEC	breast
16	chr9:117396600-117415600	Weak transcription	K562	blood
17	chr9:117397000-117414600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr9:117397000-117415600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr9:117397200-117409200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr9:117397200-117415000	Weak transcription	NHEK	skin
21	chr9:117397200-117415600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:117397200-117415600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr9:117397800-117410000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr9:117399200-117415600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr9:117401000-117414600	Weak transcription	NHDF-Ad	bronchial
26	chr9:117401000-117415600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr9:117402800-117411200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:117404600-117411000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr9:117405000-117409200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:117405000-117409400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:117405000-117410200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr9:117405200-117410200	Strong transcription	Primary hematopoietic stem cells	blood
33	chr9:117405200-117410200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr9:117405200-117410400	Strong transcription	Primary B cells from cord blood	blood
35	chr9:117405800-117409400	Weak transcription	HSMMtube	muscle
36	chr9:117405800-117423800	Weak transcription	Fetal Intestine Small	intestine
37	chr9:117406200-117415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:117406200-117415600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:117406400-117410000	Weak transcription	Fetal Brain Male	brain
40	chr9:117406600-117415600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr9:117406600-117415800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:117406800-117409600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:117406800-117414800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:117406800-117415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:117406800-117415800	Weak transcription	A549	lung
46	chr9:117406800-117419600	Weak transcription	Pancreas	Pancrea
47	chr9:117407000-117409200	Weak transcription	Right Ventricle	heart
48	chr9:117407000-117413000	Weak transcription	Esophagus	oesophagus
49	chr9:117407000-117414600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr9:117407000-117414600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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