Variant report

Variant	rs8128181
Chromosome Location	chr21:40172704-40172705
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	FOXA1	chr21:40172095-40172733	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:40159737..40161887-chr21:40171918..40174307,2	MCF-7	breast:
2	chr21:40168886..40171203-chr21:40171333..40173388,2	MCF-7	breast:
3	chr21:40127518..40129462-chr21:40170586..40172913,2	MCF-7	breast:

Variant related genes	Relation type
ETS2	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11911369	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17230954	0.82[ASN][1000 genomes]
rs17230961	0.82[ASN][1000 genomes]
rs2298560	0.86[ASN][1000 genomes]
rs2410062	0.82[ASN][1000 genomes]
rs28375993	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57740627	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60328145	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs714780	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7278693	0.82[ASN][1000 genomes]
rs7279299	0.82[ASN][1000 genomes]
rs7283433	0.82[ASN][1000 genomes]
rs73450548	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73450552	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8133056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133164	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134441	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr21:40163400-40175400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr21:40165000-40176600	Enhancers	Fetal Intestine Large	intestine
3	chr21:40166400-40175400	Enhancers	Fetal Intestine Small	intestine
4	chr21:40166400-40176000	Weak transcription	Pancreas	Pancrea
5	chr21:40166600-40177000	Weak transcription	Gastric	stomach
6	chr21:40167000-40174600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:40167000-40176600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:40167600-40175400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:40168400-40174000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:40168800-40172800	Enhancers	Stomach Mucosa	stomach
11	chr21:40168800-40174400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:40169000-40174200	Weak transcription	Fetal Lung	lung
13	chr21:40169600-40176800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:40169800-40174200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:40169800-40174400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr21:40169800-40175800	Weak transcription	NHLF	lung
17	chr21:40170400-40176600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:40170600-40174000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr21:40170800-40176400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr21:40171000-40174000	Weak transcription	Colonic Mucosa	Colon
21	chr21:40171000-40174000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr21:40171000-40174400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:40171000-40175800	Weak transcription	NH-A	brain
24	chr21:40171200-40172800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:40171200-40173000	Enhancers	A549	lung
26	chr21:40171200-40173400	Weak transcription	Placenta	Placenta
27	chr21:40171200-40174000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr21:40171200-40174000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr21:40171200-40176600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr21:40171400-40174000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr21:40171400-40176400	Weak transcription	Hela-S3	cervix
32	chr21:40171600-40176000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr21:40172000-40174400	Enhancers	NHEK	skin
34	chr21:40172000-40177000	Enhancers	HepG2	liver
35	chr21:40172200-40173800	Enhancers	HMEC	breast
36	chr21:40172400-40172800	Weak transcription	Small Intestine	intestine
37	chr21:40172600-40173200	Enhancers	Esophagus	oesophagus
38	chr21:40172600-40176800	Enhancers	K562	blood
39	chr21:40172600-40177200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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