Variant report

Variant	rs73907870
Chromosome Location	chr21:47171491-47171492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47170584..47173101-chr21:47174695..47177329,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL6A1-3	chr21:47171380-47171532	ENSG00000231820.1

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55842944	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58544516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59132102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47166200-47174400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr21:47166200-47176800	Weak transcription	Dnd41	blood
3	chr21:47166200-47194400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr21:47167800-47176200	Weak transcription	NH-A	brain
5	chr21:47168400-47171800	Weak transcription	Adipose Nuclei	Adipose
6	chr21:47168400-47172000	Weak transcription	Brain Anterior Caudate	brain
7	chr21:47168400-47172400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr21:47168600-47187000	Weak transcription	NHDF-Ad	bronchial
9	chr21:47168800-47172400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr21:47168800-47183000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:47169000-47176000	Weak transcription	Primary T cells from cord blood	blood
12	chr21:47169200-47174200	Weak transcription	HSMMtube	muscle
13	chr21:47169400-47175800	Weak transcription	HSMM	muscle
14	chr21:47169600-47171800	Strong transcription	Thymus	Thymus
15	chr21:47169800-47172000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:47169800-47172400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr21:47170000-47179800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:47170200-47171800	Strong transcription	Fetal Thymus	thymus
19	chr21:47170200-47188800	Weak transcription	Spleen	Spleen
20	chr21:47170600-47171600	Enhancers	Fetal Brain Female	brain
21	chr21:47170600-47174600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:47170800-47188200	Weak transcription	Right Atrium	heart
23	chr21:47171000-47171800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr21:47171400-47171600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:47171400-47171600	ZNF genes & repeats	Gastric	stomach

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