Variant report

Variant	rs35866166
Chromosome Location	chr9:12698471-12698472
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	GATA3	chr9:12698242-12698882	SK-N-SH	brain:	n/a	n/a
2	FOXP2	chr9:12698308-12698607	SK-N-MC	brain:	n/a	n/a
3	STAT3	chr9:12698281-12698724	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr9:12696553-12698878	SK-N-SH	brain:	n/a	chr9:12698164-12698178
5	TCF12	chr9:12698147-12698875	SK-N-SH	brain:	n/a	n/a
6	EP300	chr9:12698311-12698662	SK-N-SH_RA	brain:	n/a	n/a
7	PBX3	chr9:12698370-12698718	SK-N-SH	brain:	n/a	n/a
8	CEBPB	chr9:12698242-12698670	IMR90	lung:	n/a	n/a
9	STAT3	chr9:12698281-12698640	MCF10A-Er-Src	breast:	n/a	n/a
10	TCF12	chr9:12698291-12698798	SK-N-SH	brain:	n/a	n/a
11	EP300	chr9:12698376-12698672	SK-N-SH_RA	brain:	n/a	n/a
12	STAT3	chr9:12698317-12698631	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr9:12698317-12698629	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:12694806..12696732-chr9:12696808..12698503,2	MCF-7	breast:

Variant related genes	Relation type
TYRP1	TF binding region
ENSG00000107165	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10960766	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10960767	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10960768	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11787674	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11787999	1.00[EUR][1000 genomes]
rs11788192	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11789339	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11789481	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11789805	0.90[EUR][1000 genomes]
rs11791137	1.00[AFR][1000 genomes]
rs11791392	1.00[AFR][1000 genomes]
rs11791497	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11791954	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11793178	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11793280	1.00[AFR][1000 genomes]
rs11794050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11794202	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11795082	1.00[AFR][1000 genomes]
rs12001299	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12001737	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12001745	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12001885	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12001964	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12005881	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16929383	1.00[EUR][1000 genomes]
rs16929385	1.00[EUR][1000 genomes]
rs16929391	1.00[EUR][1000 genomes]
rs16929400	0.98[EUR][1000 genomes]
rs16929473	0.83[EUR][1000 genomes]
rs17280279	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17280629	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17346748	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2209278	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34509359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35238630	0.90[EUR][1000 genomes]
rs35852762	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3891858	0.98[EUR][1000 genomes]
rs41306290	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41314571	1.00[AFR][1000 genomes]
rs58067523	0.81[EUR][1000 genomes]
rs61758391	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61758394	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62638049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7025241	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7025758	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7026121	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7026199	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7030751	0.93[EUR][1000 genomes]
rs7033962	0.93[EUR][1000 genomes]
rs7035710	0.88[EUR][1000 genomes]
rs7040346	1.00[EUR][1000 genomes]
rs7041590	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7041735	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73402088	0.83[EUR][1000 genomes]
rs73402092	0.83[EUR][1000 genomes]
rs768617	1.00[EUR][1000 genomes]
rs7875424	1.00[EUR][1000 genomes]
rs7876041	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027260	chr9:12196141-12709959	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv540062	chr9:12196141-12709959	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759671	chr9:12235048-12784092	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1034393	chr9:12278703-12798236	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869288	chr9:12286919-12816766	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv498136	chr9:12387840-12984158	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1029415	chr9:12424340-12794623	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv540064	chr9:12424340-12794623	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv2422212	chr9:12448789-13127738	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv892572	chr9:12549675-12715816	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1016570	chr9:12576095-12722387	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv2758182	chr9:12621991-12784092	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv466255	chr9:12628213-12699776	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv613611	chr9:12628213-12699776	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv466256	chr9:12628213-12712157	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv613612	chr9:12628213-12712157	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv613613	chr9:12641987-12773263	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12693000-12710000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:12694000-12699400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:12695600-12698600	Active TSS	Right Atrium	heart
4	chr9:12695600-12699200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr9:12696000-12698600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:12696400-12704200	Weak transcription	Fetal Heart	heart
7	chr9:12696800-12699400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:12697000-12699400	Enhancers	Primary hematopoietic stem cells	blood
9	chr9:12697200-12698800	Enhancers	Colon Smooth Muscle	Colon
10	chr9:12697200-12698800	Enhancers	Fetal Stomach	stomach
11	chr9:12697200-12699000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:12697200-12699000	Enhancers	Adipose Nuclei	Adipose
13	chr9:12697200-12699000	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr9:12697200-12699400	Enhancers	Fetal Lung	lung
15	chr9:12697400-12698600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr9:12697400-12699000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:12697400-12699000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:12697400-12704800	Weak transcription	Aorta	Aorta
19	chr9:12697600-12712200	Weak transcription	Left Ventricle	heart
20	chr9:12698000-12698600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:12698000-12699000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:12698200-12698600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr9:12698200-12699000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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