Variant report

Variant	rs2822648
Chromosome Location	chr21:15754578-15754579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15738236..15741206-chr21:15753262..15755404,2	K562	blood:
2	chr21:15645251..15647400-chr21:15754351..15756122,2	K562	blood:

Variant related genes	Relation type
ENSG00000243064	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1882881	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2242661	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242662	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822646	0.92[ASN][1000 genomes]
rs2822647	0.94[ASN][1000 genomes]
rs2822649	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2822650	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2822651	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2822661	0.82[CHB][hapmap];0.81[YRI][hapmap];0.81[ASN][1000 genomes]
rs28456168	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34396263	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35244754	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67163096	0.81[ASN][1000 genomes]
rs7281846	0.85[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2822648	HSPA13	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15743800-15754600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:15744600-15754600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:15745000-15754600	Weak transcription	Stomach Mucosa	stomach
4	chr21:15746600-15754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:15750200-15754800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:15750400-15754600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:15750400-15754600	Weak transcription	Aorta	Aorta
8	chr21:15750600-15754600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr21:15750600-15754600	Weak transcription	Thymus	Thymus
10	chr21:15750600-15754800	Weak transcription	Esophagus	oesophagus
11	chr21:15750800-15754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr21:15751200-15754600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr21:15751200-15754600	Weak transcription	Lung	lung
14	chr21:15751200-15754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:15751200-15754800	Weak transcription	Left Ventricle	heart
16	chr21:15751800-15754600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr21:15752000-15754600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr21:15752000-15754600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr21:15752000-15754600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr21:15752600-15754600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr21:15752800-15754600	Enhancers	Primary T cells from cord blood	blood
22	chr21:15752800-15754600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr21:15753000-15754600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:15753000-15754800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:15753000-15754800	Enhancers	Fetal Heart	heart
26	chr21:15753000-15756800	Active TSS	A549	lung
27	chr21:15753200-15754600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr21:15753200-15754600	Enhancers	Colon Smooth Muscle	Colon
29	chr21:15753200-15756400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr21:15753200-15756600	Active TSS	Right Ventricle	heart
31	chr21:15753400-15754800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:15753400-15756400	Active TSS	K562	blood
33	chr21:15753600-15756400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr21:15753600-15756800	Active TSS	Brain Germinal Matrix	brain
35	chr21:15753800-15754600	Enhancers	Primary B cells from cord blood	blood
36	chr21:15753800-15754600	Enhancers	Primary B cells from peripheral blood	blood
37	chr21:15753800-15754800	Weak transcription	Gastric	stomach
38	chr21:15753800-15755000	Weak transcription	Spleen	Spleen
39	chr21:15753800-15756200	Active TSS	Brain Anterior Caudate	brain
40	chr21:15753800-15756400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr21:15753800-15756400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr21:15753800-15756600	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr21:15753800-15756600	Active TSS	GM12878-XiMat	blood
44	chr21:15753800-15756600	Active TSS	NHLF	lung
45	chr21:15753800-15756800	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr21:15753800-15756800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr21:15754000-15754800	Weak transcription	Small Intestine	intestine
48	chr21:15754000-15754800	Flanking Active TSS	Dnd41	blood
49	chr21:15754000-15756400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr21:15754000-15756400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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