Variant report

Variant	rs73656191
Chromosome Location	chr9:117401848-117401849
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	chr9:117401782-117401919	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117373836..117375707-chr9:117400853..117402924,2	MCF-7	breast:
2	chr9:117374384..117377233-chr9:117400977..117403274,2	K562	blood:

Variant related genes	Relation type
C9orf91	TF binding region

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]
rs12005760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16930568	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]
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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117375000-117405200	Weak transcription	Psoas Muscle	Psoas
2	chr9:117375000-117410400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:117375200-117405400	Weak transcription	Small Intestine	intestine
4	chr9:117375600-117405400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:117375800-117409200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:117375800-117415600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:117376200-117415600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:117379400-117409600	Strong transcription	Dnd41	blood
9	chr9:117380600-117409200	Strong transcription	Primary T cells from cord blood	blood
10	chr9:117382000-117415000	Weak transcription	Fetal Kidney	kidney
11	chr9:117382200-117407600	Weak transcription	Stomach Mucosa	stomach
12	chr9:117383000-117403800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:117384000-117403800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:117384200-117407800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr9:117384400-117404000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr9:117384800-117403200	Strong transcription	GM12878-XiMat	blood
17	chr9:117384800-117408600	Strong transcription	Fetal Stomach	stomach
18	chr9:117385000-117405600	Weak transcription	HSMMtube	muscle
19	chr9:117385000-117407800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:117385000-117415600	Weak transcription	NH-A	brain
21	chr9:117385800-117408600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr9:117387200-117407800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr9:117388200-117408600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:117388400-117403000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr9:117388400-117403000	Strong transcription	Primary B cells from cord blood	blood
26	chr9:117388600-117403000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr9:117388600-117403600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:117388600-117408000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:117388800-117402000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr9:117388800-117402200	Strong transcription	Thymus	Thymus
31	chr9:117388800-117403200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr9:117388800-117408400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr9:117388800-117408400	Strong transcription	Fetal Thymus	thymus
34	chr9:117388800-117408800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr9:117389000-117403400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr9:117389800-117402000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr9:117389800-117402000	Strong transcription	Ovary	ovary
38	chr9:117390400-117415200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr9:117390800-117408200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:117391200-117415600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr9:117392200-117415600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr9:117393800-117402200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:117393800-117415600	Weak transcription	HSMM	muscle
44	chr9:117394000-117415600	Weak transcription	Hela-S3	cervix
45	chr9:117394400-117408600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr9:117394400-117409000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr9:117394600-117415000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:117394800-117403200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:117395800-117408600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr9:117396400-117415600	Weak transcription	HMEC	breast

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