Variant report

Variant	rs9305295
Chromosome Location	chr21:28333007-28333008
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11910955	0.81[ASN][1000 genomes]
rs2132824	0.84[ASN][1000 genomes]
rs2830594	0.82[ASN][1000 genomes]
rs3761334	0.81[ASN][1000 genomes]
rs3761335	0.81[ASN][1000 genomes]
rs66666114	0.83[ASN][1000 genomes]
rs72635025	0.88[ASN][1000 genomes]
rs72635026	0.90[ASN][1000 genomes]
rs72635027	0.85[ASN][1000 genomes]
rs72635028	0.85[ASN][1000 genomes]
rs72635029	0.82[ASN][1000 genomes]
rs72635030	0.82[ASN][1000 genomes]
rs72635031	0.82[ASN][1000 genomes]
rs72635032	0.82[ASN][1000 genomes]
rs72635033	0.80[ASN][1000 genomes]
rs72635034	0.80[ASN][1000 genomes]
rs72635035	0.80[ASN][1000 genomes]
rs72635036	0.80[ASN][1000 genomes]
rs72635037	0.82[ASN][1000 genomes]
rs72635038	0.81[ASN][1000 genomes]
rs9636787	0.91[ASN][1000 genomes]
rs9636791	0.88[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:40 , 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	chr21:28318600-28333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:28318600-28336600	Weak transcription	Left Ventricle	heart
6	chr21:28319200-28334200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr21:28319600-28334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:28323200-28334600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:28325600-28334200	Weak transcription	NHLF	lung
10	chr21:28327200-28334800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr21:28327400-28333600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr21:28328000-28333800	Genic enhancers	NHDF-Ad	bronchial
13	chr21:28328800-28334400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr21:28329400-28334600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:28329600-28334200	Weak transcription	Colon Smooth Muscle	Colon
16	chr21:28330200-28334200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr21:28330400-28333600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:28330800-28334200	Weak transcription	Fetal Brain Male	brain
19	chr21:28331200-28334000	Weak transcription	Fetal Brain Female	brain
20	chr21:28331200-28334600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr21:28331400-28334400	Weak transcription	Brain Germinal Matrix	brain
22	chr21:28331600-28338000	Weak transcription	Liver	Liver
23	chr21:28331800-28333200	Weak transcription	Fetal Stomach	stomach
24	chr21:28332000-28333200	Flanking Active TSS	Ovary	ovary
25	chr21:28332000-28333800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:28332200-28335200	Transcr. at gene 5' and 3'	HSMMtube	muscle
27	chr21:28332400-28333400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr21:28332400-28334800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:28332400-28335800	Weak transcription	Right Atrium	heart
30	chr21:28332600-28333200	Strong transcription	Fetal Muscle Leg	muscle
31	chr21:28332600-28334600	Weak transcription	Aorta	Aorta
32	chr21:28332600-28336400	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr21:28332600-28336600	Weak transcription	Spleen	Spleen
34	chr21:28332800-28334000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:28332800-28334800	Genic enhancers	Osteobl	bone
36	chr21:28333000-28333200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr21:28333000-28333400	Strong transcription	HSMM	muscle
38	chr21:28333000-28333600	Enhancers	Adipose Nuclei	Adipose
39	chr21:28333000-28333600	Weak transcription	Fetal Kidney	kidney
40	chr21:28333000-28333800	Enhancers	Small Intestine	intestine

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