Variant report

Variant	rs3761334
Chromosome Location	chr21:28340778-28340779
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28340634..28343175-chr21:28343403..28345485,2	K562	blood:
2	chr21:28339449..28341651-chr21:28350811..28353450,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11910955	0.82[ASN][1000 genomes]
rs2132824	0.83[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs2830594	0.84[ASN][1000 genomes]
rs2830602	0.81[ASN][1000 genomes]
rs3761335	0.90[CHB][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66666114	0.86[ASN][1000 genomes]
rs72635026	0.84[ASN][1000 genomes]
rs72635027	0.89[ASN][1000 genomes]
rs72635028	0.88[ASN][1000 genomes]
rs72635029	0.84[ASN][1000 genomes]
rs72635030	0.84[ASN][1000 genomes]
rs72635031	0.84[ASN][1000 genomes]
rs72635032	0.84[ASN][1000 genomes]
rs72635033	0.82[ASN][1000 genomes]
rs72635034	0.82[ASN][1000 genomes]
rs72635035	0.82[ASN][1000 genomes]
rs72635036	0.82[ASN][1000 genomes]
rs72635037	0.84[ASN][1000 genomes]
rs72635038	0.83[ASN][1000 genomes]
rs8129090	0.85[ASN][1000 genomes]
rs9305295	0.81[ASN][1000 genomes]
rs9636787	0.85[ASN][1000 genomes]
rs9636791	0.90[ASN][1000 genomes]
rs9977754	0.84[EUR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28337400-28340800	Active TSS	Osteobl	bone
2	chr21:28337600-28340800	Active TSS	Fetal Kidney	kidney
3	chr21:28337600-28341000	Active TSS	Hela-S3	cervix
4	chr21:28339600-28340800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr21:28340400-28340800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
6	chr21:28340400-28340800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr21:28340400-28340800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:28340400-28340800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr21:28340400-28340800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr21:28340400-28340800	Enhancers	Placenta	Placenta
11	chr21:28340400-28341000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
12	chr21:28340400-28341200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr21:28340400-28349600	Weak transcription	HSMM	muscle
14	chr21:28340600-28340800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
15	chr21:28340600-28340800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr21:28340600-28340800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr21:28340600-28340800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:28340600-28340800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:28340600-28340800	Active TSS	HSMMtube	muscle
20	chr21:28340600-28341000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr21:28340600-28341000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr21:28340600-28341000	Flanking Active TSS	Ovary	ovary
23	chr21:28340600-28341200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr21:28340600-28341200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr21:28340600-28341600	Enhancers	NHDF-Ad	bronchial
26	chr21:28340600-28342400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr21:28340600-28345400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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