Variant report

Variant	rs2822643
Chromosome Location	chr21:15750870-15750871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15740980..15743787-chr21:15748039..15750871,3	K562	blood:
2	chr21:15750689..15753216-chr21:15754882..15756987,2	MCF-7	breast:
3	chr21:15750287..15752845-chr21:15753558..15756230,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155304	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17002566	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002638	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002670	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822641	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822645	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59442083	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60331773	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7275514	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276997	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7278449	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73339743	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73341927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73341928	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73892152	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134289	1.00[CEU][hapmap];0.89[AMR][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	chr21:15743800-15752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:15743800-15754600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:15744200-15752400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr21:15744600-15751000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:15744600-15751000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:15744600-15751400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr21:15744600-15751400	Strong transcription	Fetal Intestine Large	intestine
9	chr21:15744600-15752600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr21:15744600-15752600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr21:15744600-15754600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:15744800-15751400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr21:15744800-15751400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:15744800-15751600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr21:15744800-15752000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:15744800-15753000	Weak transcription	Fetal Heart	heart
17	chr21:15745000-15751000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:15745000-15751000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr21:15745000-15751000	Strong transcription	Liver	Liver
20	chr21:15745000-15751200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr21:15745000-15751200	Strong transcription	Primary B cells from cord blood	blood
22	chr21:15745000-15751400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:15745000-15751400	Strong transcription	Dnd41	blood
24	chr21:15745000-15752000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr21:15745000-15752000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr21:15745000-15752400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr21:15745000-15753000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr21:15745000-15754600	Weak transcription	Stomach Mucosa	stomach
29	chr21:15745200-15751200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr21:15745200-15752000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr21:15745200-15752000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr21:15745400-15751400	Strong transcription	HUVEC	blood vessel
33	chr21:15745400-15754400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr21:15745600-15751000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr21:15745600-15751200	Strong transcription	Fetal Thymus	thymus
36	chr21:15745600-15751400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:15745600-15751400	Strong transcription	NH-A	brain
38	chr21:15745600-15751600	Strong transcription	Osteobl	bone
39	chr21:15745800-15751200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr21:15745800-15751400	Strong transcription	Brain Anterior Caudate	brain
41	chr21:15746000-15751000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr21:15746000-15751200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:15746000-15751200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr21:15746000-15751200	Strong transcription	Fetal Muscle Leg	muscle
45	chr21:15746600-15753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr21:15746600-15754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr21:15747600-15751200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr21:15747600-15751200	Strong transcription	Left Ventricle	heart
49	chr21:15747600-15751400	Strong transcription	NHEK	skin
50	chr21:15747800-15751200	Strong transcription	Lung	lung

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