Variant report

Variant	rs55801805
Chromosome Location	chr21:37849618-37849619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37804649..37806977-chr21:37848671..37850557,2	K562	blood:
2	chr21:37801129..37804550-chr21:37848189..37852893,8	MCF-7	breast:
3	chr21:37848424..37851198-chr21:37861596..37863686,2	K562	blood:
4	chr21:37845772..37848149-chr21:37849075..37851018,2	K562	blood:
5	chr21:37836196..37840141-chr21:37845664..37849647,3	K562	blood:
6	chr21:37849419..37852233-chr21:37857514..37860085,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267976	Chromatin interaction
ENSG00000159261	Chromatin interaction
ENSG00000223741	Chromatin interaction
ENSG00000230479	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16994103	1.00[ASN][1000 genomes]
rs2101437	1.00[ASN][1000 genomes]
rs219767	1.00[ASN][1000 genomes]
rs219768	1.00[ASN][1000 genomes]
rs219769	1.00[ASN][1000 genomes]
rs219770	1.00[ASN][1000 genomes]
rs219771	1.00[ASN][1000 genomes]
rs219772	1.00[ASN][1000 genomes]
rs219773	1.00[ASN][1000 genomes]
rs219774	1.00[ASN][1000 genomes]
rs219775	1.00[ASN][1000 genomes]
rs219776	1.00[ASN][1000 genomes]
rs219777	1.00[ASN][1000 genomes]
rs219778	1.00[ASN][1000 genomes]
rs219779	1.00[ASN][1000 genomes]
rs219781	1.00[ASN][1000 genomes]
rs219782	1.00[ASN][1000 genomes]
rs219783	1.00[ASN][1000 genomes]
rs219784	1.00[ASN][1000 genomes]
rs219787	1.00[ASN][1000 genomes]
rs2835343	1.00[ASN][1000 genomes]
rs2835363	1.00[ASN][1000 genomes]
rs35692359	1.00[ASN][1000 genomes]
rs73902527	1.00[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	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv33286	chr21:37827016-37861556	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv587470	chr21:37834641-37872447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37838000-37850800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:37843400-37851000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:37844400-37850000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:37845000-37850000	Weak transcription	GM12878-XiMat	blood
5	chr21:37847400-37849800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:37848400-37850400	Transcr. at gene 5' and 3'	Liver	Liver
7	chr21:37849000-37850600	Enhancers	A549	lung
8	chr21:37849000-37852600	Enhancers	Fetal Heart	heart
9	chr21:37849200-37849800	Enhancers	Brain Cingulate Gyrus	brain
10	chr21:37849200-37850000	Enhancers	Brain Anterior Caudate	brain
11	chr21:37849200-37850000	Enhancers	Brain Hippocampus Middle	brain
12	chr21:37849200-37850000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr21:37849200-37850200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr21:37849200-37850600	Enhancers	Osteobl	bone
15	chr21:37849200-37850800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:37849200-37850800	Enhancers	NH-A	brain
17	chr21:37849200-37851000	Flanking Active TSS	HepG2	liver
18	chr21:37849200-37851400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr21:37849200-37852600	Enhancers	Stomach Mucosa	stomach
20	chr21:37849400-37849800	Weak transcription	Right Atrium	heart
21	chr21:37849400-37850000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:37849400-37850000	Enhancers	Gastric	stomach
23	chr21:37849400-37850200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:37849400-37850200	Enhancers	Left Ventricle	heart
25	chr21:37849400-37850200	Enhancers	Pancreas	Pancrea
26	chr21:37849400-37850800	Enhancers	HUVEC	blood vessel
27	chr21:37849400-37852800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr21:37849600-37850200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr21:37849600-37850800	Weak transcription	Fetal Lung	lung
30	chr21:37849600-37851000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr21:37849600-37851000	Weak transcription	Brain Substantia Nigra	brain
32	chr21:37849600-37851000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr21:37849600-37851400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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