Variant report

Variant	rs2822644
Chromosome Location	chr21:15753020-15753021
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15751469..15753501-chr21:15755651..15758117,2	K562	blood:
2	chr21:15750689..15753216-chr21:15754882..15756987,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155304	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1040330	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12479	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13048179	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13048477	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2037941	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2142240	0.81[AMR][1000 genomes]
rs2822624	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2822629	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2822631	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2822632	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2822636	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2822638	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2822642	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2822652	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2822655	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2822661	0.83[JPT][hapmap]
rs2822662	1.00[JPT][hapmap]
rs7276170	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7282521	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9305301	0.86[ASN][1000 genomes]
rs9974630	0.84[ASN][1000 genomes]
rs9982492	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[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	nsv1064554	chr21:15676222-15809321	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1061686	chr21:15724570-15765777	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv913403	chr21:15743387-15786271	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15743400-15753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:15743800-15754600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:15744600-15754600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:15745000-15754600	Weak transcription	Stomach Mucosa	stomach
5	chr21:15745400-15754400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:15746600-15754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:15749600-15754400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr21:15750000-15753200	Weak transcription	NHDF-Ad	bronchial
9	chr21:15750200-15753200	Weak transcription	Gastric	stomach
10	chr21:15750200-15754400	Weak transcription	Colonic Mucosa	Colon
11	chr21:15750200-15754800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:15750400-15753200	Weak transcription	Small Intestine	intestine
13	chr21:15750400-15754600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:15750400-15754600	Weak transcription	Aorta	Aorta
15	chr21:15750600-15753200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:15750600-15753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr21:15750600-15753200	Weak transcription	Fetal Lung	lung
18	chr21:15750600-15753200	Weak transcription	Pancreas	Pancrea
19	chr21:15750600-15753200	Weak transcription	Right Ventricle	heart
20	chr21:15750600-15753200	Weak transcription	Spleen	Spleen
21	chr21:15750600-15753600	Weak transcription	Fetal Stomach	stomach
22	chr21:15750600-15753600	Weak transcription	Ovary	ovary
23	chr21:15750600-15754400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr21:15750600-15754400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr21:15750600-15754400	Weak transcription	Fetal Kidney	kidney
26	chr21:15750600-15754400	Weak transcription	Placenta	Placenta
27	chr21:15750600-15754400	Weak transcription	Psoas Muscle	Psoas
28	chr21:15750600-15754600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr21:15750600-15754600	Weak transcription	Thymus	Thymus
30	chr21:15750600-15754800	Weak transcription	Esophagus	oesophagus
31	chr21:15750800-15753200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr21:15750800-15753200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr21:15750800-15753200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr21:15750800-15753200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr21:15750800-15753200	Weak transcription	Colon Smooth Muscle	Colon
36	chr21:15750800-15753200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr21:15750800-15753200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr21:15750800-15753200	Weak transcription	HMEC	breast
39	chr21:15750800-15753200	Weak transcription	HSMMtube	muscle
40	chr21:15750800-15753600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr21:15750800-15753600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr21:15750800-15754400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr21:15750800-15754400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:15750800-15754400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr21:15750800-15754400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr21:15750800-15754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr21:15751000-15753200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr21:15751000-15753200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr21:15751000-15753400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr21:15751000-15753600	Weak transcription	Primary T cells fromperipheralblood	blood

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