Variant report

Variant	rs2823029
Chromosome Location	chr21:16428580-16428581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16395351..16397728-chr21:16427292..16429201,2	MCF-7	breast:
2	chr21:16235181..16239841-chr21:16427951..16432204,4	MCF-7	breast:
3	chr21:16235520..16237487-chr21:16427228..16429258,2	MCF-7	breast:
4	chr21:16422646..16426145-chr21:16428439..16434126,5	K562	blood:
5	chr21:16358423..16361021-chr21:16428563..16430076,2	K562	blood:
6	chr21:16423927..16426073-chr21:16428028..16429939,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1041404	0.89[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13052454	0.98[ASN][1000 genomes]
rs2026848	0.98[ASN][1000 genomes]
rs2142216	0.93[ASN][1000 genomes]
rs2142219	0.98[ASN][1000 genomes]
rs2403873	0.94[ASN][1000 genomes]
rs2823003	0.91[CHB][hapmap]
rs2823017	0.81[CHB][hapmap]
rs2823022	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2823027	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4356736	0.94[ASN][1000 genomes]
rs8132398	0.85[YRI][hapmap]
rs8133012	0.98[ASN][1000 genomes]
rs8133792	0.92[ASN][1000 genomes]
rs9982976	0.90[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16407400-16431200	Weak transcription	NHEK	skin
2	chr21:16415200-16431200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:16415400-16429600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr21:16420400-16434800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:16422800-16435200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr21:16423200-16429200	Enhancers	Brain Hippocampus Middle	brain
7	chr21:16423600-16435200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:16423800-16435200	Weak transcription	Fetal Brain Male	brain
9	chr21:16424000-16429800	Weak transcription	Fetal Stomach	stomach
10	chr21:16424200-16429400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr21:16424200-16429600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr21:16424200-16429600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:16424200-16429600	Weak transcription	Lung	lung
14	chr21:16424400-16428800	Enhancers	Liver	Liver
15	chr21:16424400-16429200	Weak transcription	Fetal Lung	lung
16	chr21:16424400-16429600	Weak transcription	Fetal Muscle Leg	muscle
17	chr21:16424400-16429600	Weak transcription	Ovary	ovary
18	chr21:16424400-16435400	Weak transcription	Gastric	stomach
19	chr21:16424600-16429600	Weak transcription	Right Atrium	heart
20	chr21:16424800-16429200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr21:16424800-16429200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:16424800-16429200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:16424800-16429200	Weak transcription	HSMM	muscle
24	chr21:16424800-16429400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr21:16424800-16429600	Enhancers	Adipose Nuclei	Adipose
26	chr21:16424800-16429600	Enhancers	Fetal Intestine Small	intestine
27	chr21:16424800-16431400	Enhancers	Fetal Intestine Large	intestine
28	chr21:16425000-16428800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr21:16425000-16429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr21:16425000-16429000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr21:16425000-16429200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr21:16425000-16429200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr21:16425000-16429200	Enhancers	Duodenum Mucosa	Duodenum
34	chr21:16425000-16429200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr21:16425000-16429400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr21:16425000-16429400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr21:16425000-16429400	Enhancers	Primary B cells from cord blood	blood
38	chr21:16425000-16429400	Weak transcription	Colonic Mucosa	Colon
39	chr21:16425000-16430400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr21:16425200-16428600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr21:16425200-16429000	Weak transcription	Fetal Heart	heart
42	chr21:16425200-16429200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr21:16425200-16429200	Weak transcription	HSMMtube	muscle
44	chr21:16425800-16428600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr21:16425800-16429200	Weak transcription	Stomach Mucosa	stomach
46	chr21:16425800-16433000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr21:16426000-16429000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr21:16426000-16429200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr21:16426000-16429400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr21:16426200-16429000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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