Variant report

Variant	rs233895
Chromosome Location	chr21:28325311-28325312
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	POLR2A	chr21:28324995-28325402	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
MIR4759	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs151058	0.97[ASN][1000 genomes]
rs229048	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs233598	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs233601	0.82[EUR][1000 genomes]
rs233894	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
2	chr21:28306600-28333600	Weak transcription	Fetal Intestine Large	intestine
3	chr21:28309600-28337200	Weak transcription	Fetal Heart	heart
4	chr21:28317000-28330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:28318600-28327000	Weak transcription	Psoas Muscle	Psoas
6	chr21:28318600-28333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:28318600-28336600	Weak transcription	Left Ventricle	heart
8	chr21:28319200-28334200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr21:28319400-28326600	Weak transcription	Brain Germinal Matrix	brain
10	chr21:28319400-28328600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:28319600-28326600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr21:28319600-28328400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr21:28319600-28334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr21:28319800-28326000	Weak transcription	Fetal Brain Female	brain
15	chr21:28320800-28326600	Weak transcription	Ovary	ovary
16	chr21:28321000-28326400	Strong transcription	HSMM	muscle
17	chr21:28321000-28326800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr21:28321000-28328400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:28322000-28327400	Strong transcription	Osteobl	bone
20	chr21:28322600-28328400	Weak transcription	Fetal Stomach	stomach
21	chr21:28322800-28325600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr21:28323200-28334600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr21:28324000-28325800	Genic enhancers	NHDF-Ad	bronchial
24	chr21:28324000-28326000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:28324200-28326400	Weak transcription	Fetal Brain Male	brain
26	chr21:28324400-28325600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:28324400-28325600	Enhancers	Fetal Kidney	kidney
28	chr21:28324600-28325600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr21:28324600-28325600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr21:28324600-28326800	Genic enhancers	Adipose Nuclei	Adipose
31	chr21:28324600-28327600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:28324600-28327600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr21:28324800-28325400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr21:28324800-28325600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr21:28325000-28325400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr21:28325000-28325400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr21:28325000-28325600	Strong transcription	NHLF	lung
38	chr21:28325000-28326800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr21:28325000-28327000	Genic enhancers	HSMMtube	muscle
40	chr21:28325000-28332200	Weak transcription	Spleen	Spleen
41	chr21:28325200-28325800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:28325200-28327000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr21:28325200-28327200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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