Variant report

Variant	rs73652845
Chromosome Location	chr9:22040290-22040291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22038203..22040201-chr9:22040203..22041986,3	MCF-7	breast:
2	chr9:22039593..22042094-chr9:22105940..22108380,2	MCF-7	breast:
3	chr9:22002758..22010749-chr9:22033383..22042446,18	MCF-7	breast:
4	chr9:21993525..21996315-chr9:22037992..22040921,2	MCF-7	breast:
5	chr9:22002042..22006678-chr9:22036206..22041573,7	MCF-7	breast:
6	chr9:22034736..22038556-chr9:22039205..22042136,3	MCF-7	breast:
7	chr9:22038257..22040958-chr9:22096182..22098663,2	MCF-7	breast:
8	chr9:22036137..22041888-chr9:22239404..22245288,7	MCF-7	breast:
9	chr9:22007719..22013279-chr9:22036472..22044819,13	MCF-7	breast:
10	chr9:22040082..22042257-chr9:22102336..22104527,2	MCF-7	breast:
11	chr9:21994172..21997143-chr9:22038406..22040314,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147883	Chromatin interaction
ENSG00000266446	Chromatin interaction
ENSG00000215221	Chromatin interaction
ENSG00000240498	Chromatin interaction
ENSG00000147889	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16935753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2069420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2151279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3217980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3217990	1.00[EUR][1000 genomes]
rs3217994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3217997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3217999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3218003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3218021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3218022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3218023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731205	1.00[EUR][1000 genomes]
rs56235436	0.83[AMR][1000 genomes]
rs60693449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61564778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73650003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73650008	0.91[AFR][1000 genomes]
rs73652816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652841	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73652842	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652843	1.00[EUR][1000 genomes]
rs73652846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73652849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1018514	chr9:21944275-22075326	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv892747	chr9:21984661-22068646	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22030800-22041800	Weak transcription	Stomach Mucosa	stomach
2	chr9:22036000-22042600	Weak transcription	Esophagus	oesophagus
3	chr9:22036600-22042400	Weak transcription	Pancreas	Pancrea
4	chr9:22036600-22042400	Enhancers	Hela-S3	cervix
5	chr9:22036800-22041200	Enhancers	Fetal Intestine Large	intestine
6	chr9:22036800-22042800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:22037000-22042200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:22037200-22040400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:22037200-22042400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr9:22037200-22042800	Enhancers	Fetal Intestine Small	intestine
11	chr9:22037400-22042400	Enhancers	NHLF	lung
12	chr9:22037600-22040400	Weak transcription	NH-A	brain
13	chr9:22037600-22041800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:22037600-22042800	Enhancers	NHEK	skin
15	chr9:22037800-22042600	Enhancers	NHDF-Ad	bronchial
16	chr9:22038200-22040400	Weak transcription	Osteobl	bone
17	chr9:22038200-22044000	Weak transcription	Dnd41	blood
18	chr9:22038400-22040400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr9:22038400-22041000	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:22038600-22042000	Enhancers	Adipose Nuclei	Adipose
21	chr9:22039200-22042200	Enhancers	HSMMtube	muscle
22	chr9:22039200-22042800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:22039200-22042800	Enhancers	HMEC	breast
24	chr9:22039400-22041800	Weak transcription	Liver	Liver
25	chr9:22039400-22043200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr9:22039600-22042400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:22039800-22040800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:22039800-22042800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:22040000-22040400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:22040000-22040400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr9:22040000-22040600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:22040000-22040800	Enhancers	Colonic Mucosa	Colon
33	chr9:22040000-22041400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:22040000-22042200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr9:22040000-22042600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:22040000-22042800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:22040000-22042800	Enhancers	HSMM	muscle
38	chr9:22040200-22041000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr9:22040200-22046000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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