Variant report

Variant	rs11911369
Chromosome Location	chr21:40175634-40175635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr21:40174234-40175693	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40175328..40180167-chr21:40553641..40558387,7	K562	blood:
2	chr21:40175328..40178574-chr21:40554098..40556223,3	K562	blood:
3	chr21:40174647..40179577-chr21:40285247..40287797,5	MCF-7	breast:
4	chr21:40174974..40176584-chr21:40544801..40546577,2	K562	blood:
5	chr21:40154093..40155752-chr21:40174948..40176789,2	MCF-7	breast:

No data

Variant related genes	Relation type
ETS2	TF binding region
ENSG00000272991	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000234035	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11701301	0.81[ASN][1000 genomes]
rs17230954	0.85[ASN][1000 genomes]
rs17230961	0.85[ASN][1000 genomes]
rs2298560	0.89[ASN][1000 genomes]
rs2410062	0.85[ASN][1000 genomes]
rs2836715	0.81[ASN][1000 genomes]
rs2836717	0.81[ASN][1000 genomes]
rs2836720	0.81[ASN][1000 genomes]
rs2836724	0.81[ASN][1000 genomes]
rs28375993	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28508188	0.81[ASN][1000 genomes]
rs28817686	0.81[ASN][1000 genomes]
rs28836833	0.81[ASN][1000 genomes]
rs467698	0.81[ASN][1000 genomes]
rs467806	0.81[ASN][1000 genomes]
rs57740627	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59086904	0.81[ASN][1000 genomes]
rs60328145	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs714780	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7278693	0.85[ASN][1000 genomes]
rs7279299	0.85[ASN][1000 genomes]
rs7283433	0.85[ASN][1000 genomes]
rs73450548	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450552	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128181	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8133056	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8133164	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8134019	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8134441	0.97[EUR][1000 genomes];0.96[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40165000-40176600	Enhancers	Fetal Intestine Large	intestine
2	chr21:40166400-40176000	Weak transcription	Pancreas	Pancrea
3	chr21:40166600-40177000	Weak transcription	Gastric	stomach
4	chr21:40167000-40176600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:40169600-40176800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:40169800-40175800	Weak transcription	NHLF	lung
7	chr21:40170400-40176600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:40170800-40176400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr21:40171000-40175800	Weak transcription	NH-A	brain
10	chr21:40171200-40176600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:40171400-40176400	Weak transcription	Hela-S3	cervix
12	chr21:40171600-40176000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr21:40172000-40177000	Enhancers	HepG2	liver
14	chr21:40172600-40176800	Enhancers	K562	blood
15	chr21:40172600-40177200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:40173000-40176000	Weak transcription	Small Intestine	intestine
17	chr21:40173000-40176800	Weak transcription	Right Atrium	heart
18	chr21:40173400-40176800	Enhancers	Placenta	Placenta
19	chr21:40173600-40176800	Enhancers	Stomach Mucosa	stomach
20	chr21:40173800-40176600	Weak transcription	HMEC	breast
21	chr21:40174000-40176000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr21:40174000-40176200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr21:40174000-40176400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:40174000-40176400	Enhancers	Duodenum Mucosa	Duodenum
25	chr21:40174200-40176000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:40174200-40176600	Enhancers	Fetal Lung	lung
27	chr21:40174400-40176600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr21:40174400-40176800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:40174600-40176200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr21:40175200-40175800	Enhancers	A549	lung
31	chr21:40175200-40176000	Enhancers	Colonic Mucosa	Colon
32	chr21:40175200-40176800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr21:40175400-40176200	Enhancers	Primary hematopoietic stem cells	blood
34	chr21:40175400-40176200	Genic enhancers	Fetal Intestine Small	intestine
35	chr21:40175400-40176200	Weak transcription	Osteobl	bone
36	chr21:40175400-40176600	Enhancers	NHEK	skin
37	chr21:40175400-40176800	Enhancers	Fetal Muscle Trunk	muscle
38	chr21:40175400-40176800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr21:40175400-40177000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:40175400-40177000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr21:40175400-40177000	Enhancers	Esophagus	oesophagus
42	chr21:40175400-40177200	Enhancers	Lung	lung

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