Variant report

Variant	rs11993141
Chromosome Location	chr8:10573098-10573099
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	RCOR1	chr8:10573040-10573171	K562	blood:	n/a	n/a
2	POLR2A	chr8:10573087-10573193	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr8:10572779-10574300	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr8:10573088-10574049	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10572945..10574994-chr8:10579706..10582412,2	K562	blood:
2	chr8:10568215..10570516-chr8:10570791..10574753,3	K562	blood:

Variant related genes	Relation type
RP1L1	TF binding region
ENSG00000183638	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10086247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10088387	1.00[AMR][1000 genomes]
rs10099183	1.00[AMR][1000 genomes]
rs10106138	1.00[AMR][1000 genomes]
rs10109388	1.00[AMR][1000 genomes]
rs10111185	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11250059	1.00[AMR][1000 genomes]
rs11250063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11984917	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11989282	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12546210	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28562927	1.00[AMR][1000 genomes]
rs28613894	1.00[AMR][1000 genomes]
rs28712563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6987514	1.00[AMR][1000 genomes]
rs6993755	1.00[AMR][1000 genomes]
rs6998635	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7824572	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7825310	1.00[AMR][1000 genomes]
rs7831365	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7833521	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1028266	chr8:10537081-10586112	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1032725	chr8:10561962-10585683	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10568800-10573400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:10569000-10573200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:10569600-10573400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:10570200-10575000	Enhancers	Duodenum Mucosa	Duodenum
5	chr8:10570400-10573400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:10570800-10573200	Weak transcription	K562	blood
7	chr8:10570800-10575800	Enhancers	Lung	lung
8	chr8:10571200-10574200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:10571400-10573200	Enhancers	Hela-S3	cervix
10	chr8:10571400-10573400	Bivalent Enhancer	Right Ventricle	heart
11	chr8:10571800-10574000	Enhancers	Spleen	Spleen
12	chr8:10572000-10583000	Weak transcription	Liver	Liver
13	chr8:10572200-10573400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr8:10572200-10575400	Enhancers	HUVEC	blood vessel
15	chr8:10572400-10573200	Enhancers	Fetal Muscle Leg	muscle
16	chr8:10572400-10574200	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr8:10572600-10573400	Enhancers	Right Atrium	heart
18	chr8:10572600-10574200	Enhancers	NHEK	skin
19	chr8:10572600-10574400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:10572800-10573200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
21	chr8:10572800-10573600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:10572800-10574200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr8:10572800-10574400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:10572800-10574800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:10572800-10575600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr8:10573000-10573400	Bivalent Enhancer	Placenta	Placenta
27	chr8:10573000-10573600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:10573000-10573600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr8:10573000-10574200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:10573000-10574400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:10573000-10574400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:10573000-10574400	Enhancers	Esophagus	oesophagus

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