Variant report

Variant	rs73289300
Chromosome Location	chr10:46090871-46090872
allele	C/T
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	MXI1	chr10:46089423-46091005	IMR90	lung:	n/a	chr10:46090405-46090420 chr10:46090407-46090422 chr10:46090360-46090369
2	MXI1	chr10:46089400-46091003	SK-N-SH	brain:	n/a	chr10:46090405-46090420 chr10:46090407-46090422 chr10:46090360-46090369
3	JUN	chr10:46088388-46090928	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:46089818..46091766-chr10:51564729..51566878,2	K562	blood:
2	chr10:46090407..46092284-chr10:46092832..46094617,2	K562	blood:
3	chr10:45473658..45475931-chr10:46089040..46091906,2	K562	blood:

Variant related genes	Relation type
MARCH8	TF binding region
ENSG00000138293	Chromatin interaction
ENSG00000165507	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12253903	0.83[AMR][1000 genomes]
rs12776336	0.83[AMR][1000 genomes]
rs56749023	0.83[AMR][1000 genomes]
rs57973254	0.83[AMR][1000 genomes]
rs58393353	0.88[AFR][1000 genomes]
rs58437785	1.00[AMR][1000 genomes]
rs58967087	0.83[AMR][1000 genomes]
rs60040820	0.83[AMR][1000 genomes]
rs60481109	0.83[AMR][1000 genomes]
rs60704479	0.96[AFR][1000 genomes]
rs60710398	0.83[AMR][1000 genomes]
rs73285358	0.83[AMR][1000 genomes]
rs73285360	0.83[AMR][1000 genomes]
rs73285365	0.83[AMR][1000 genomes]
rs73285375	0.83[AMR][1000 genomes]
rs73285378	0.83[AMR][1000 genomes]
rs73285382	0.83[AMR][1000 genomes]
rs73285386	0.83[AMR][1000 genomes]
rs73285401	0.83[AMR][1000 genomes]
rs73287368	0.83[AMR][1000 genomes]
rs73287373	0.83[AMR][1000 genomes]
rs73287377	0.83[AMR][1000 genomes]
rs73287378	0.83[AMR][1000 genomes]
rs73287380	0.83[AMR][1000 genomes]
rs73287385	0.83[AMR][1000 genomes]
rs73287387	0.83[AMR][1000 genomes]
rs73287389	0.83[AMR][1000 genomes]
rs73287393	0.83[AMR][1000 genomes]
rs73289214	0.83[AMR][1000 genomes]
rs73289290	0.83[AMR][1000 genomes]
rs73291106	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73292804	1.00[AMR][1000 genomes]
rs73292807	0.83[AMR][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	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv895112	chr10:46012620-46202216	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46089000-46091000	Active TSS	Duodenum Mucosa	Duodenum
2	chr10:46089200-46091000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:46089200-46091000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr10:46089200-46091000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:46089400-46091000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:46089400-46091000	Active TSS	Brain Angular Gyrus	brain
7	chr10:46089400-46091000	Active TSS	Placenta	Placenta
8	chr10:46089400-46091000	Active TSS	A549	lung
9	chr10:46089600-46091000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr10:46089800-46091000	Active TSS	Brain Anterior Caudate	brain
11	chr10:46090200-46091000	Flanking Active TSS	Dnd41	blood
12	chr10:46090400-46092600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr10:46090400-46094200	Weak transcription	Small Intestine	intestine
14	chr10:46090600-46091000	Flanking Active TSS	Fetal Brain Female	brain
15	chr10:46090600-46091000	Flanking Active TSS	Hela-S3	cervix
16	chr10:46090600-46091000	Flanking Active TSS	HepG2	liver
17	chr10:46090600-46091600	Weak transcription	Pancreas	Pancrea
18	chr10:46090600-46167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:46090800-46091000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr10:46090800-46091000	Enhancers	Primary B cells from cord blood	blood
21	chr10:46090800-46091000	Enhancers	Primary B cells from peripheral blood	blood
22	chr10:46090800-46091000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr10:46090800-46091000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:46090800-46091000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:46090800-46091000	Enhancers	Liver	Liver
26	chr10:46090800-46091000	Enhancers	Fetal Muscle Leg	muscle
27	chr10:46090800-46091000	Enhancers	Fetal Stomach	stomach
28	chr10:46090800-46091000	Enhancers	K562	blood
29	chr10:46090800-46091000	Active TSS	Osteobl	bone
30	chr10:46090800-46091600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr10:46090800-46092800	Enhancers	Fetal Intestine Small	intestine
32	chr10:46090800-46094800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr10:46090800-46095800	Enhancers	Fetal Intestine Large	intestine
34	chr10:46090800-46096000	Weak transcription	Right Ventricle	heart

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