Variant report

Variant	rs59292357
Chromosome Location	chr21:45495068-45495069
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	chr21:45487715..45490221-chr21:45492098..45495083,2	K562	blood:
2	chr21:45230529..45232410-chr21:45493973..45496831,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17004622	1.00[AMR][1000 genomes]
rs34694890	1.00[AMR][1000 genomes]
rs57937156	1.00[AMR][1000 genomes]
rs59464702	1.00[AMR][1000 genomes]
rs60541190	1.00[AMR][1000 genomes]
rs7277785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7277998	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
3	chr21:45468400-45502400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:45468800-45502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:45469400-45502000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr21:45471800-45495400	Strong transcription	Fetal Muscle Leg	muscle
7	chr21:45471800-45502200	Strong transcription	Fetal Intestine Small	intestine
8	chr21:45472000-45502600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr21:45472600-45504400	Strong transcription	Fetal Stomach	stomach
10	chr21:45472800-45503800	Strong transcription	Liver	Liver
11	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr21:45475000-45502600	Weak transcription	Right Atrium	heart
13	chr21:45481400-45498400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:45481600-45502400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr21:45481600-45510800	Strong transcription	Dnd41	blood
16	chr21:45481600-45523800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr21:45481800-45502600	Strong transcription	Left Ventricle	heart
18	chr21:45481800-45503800	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr21:45482000-45503000	Strong transcription	Primary B cells from cord blood	blood
20	chr21:45484400-45496200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr21:45484600-45496000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr21:45485400-45498600	Weak transcription	Stomach Mucosa	stomach
23	chr21:45485600-45502200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:45485800-45502200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr21:45485800-45506800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr21:45485800-45506800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr21:45486000-45502000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr21:45486000-45503000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr21:45486200-45495200	Strong transcription	Primary T cells from cord blood	blood
30	chr21:45486200-45495400	Strong transcription	Placenta	Placenta
31	chr21:45486200-45503400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr21:45486200-45524000	Strong transcription	GM12878-XiMat	blood
33	chr21:45486400-45501000	Strong transcription	Fetal Thymus	thymus
34	chr21:45486400-45501000	Strong transcription	Thymus	Thymus
35	chr21:45486400-45501800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:45487000-45498000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr21:45487000-45498000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr21:45487200-45501800	Weak transcription	A549	lung
39	chr21:45487600-45498000	Weak transcription	HMEC	breast
40	chr21:45488400-45496200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr21:45488400-45499200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr21:45488400-45523800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:45488600-45507200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr21:45489000-45498000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr21:45489000-45502600	Strong transcription	Adipose Nuclei	Adipose
46	chr21:45489000-45504000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr21:45489000-45504000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr21:45489000-45504600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr21:45489200-45495200	Strong transcription	Spleen	Spleen
50	chr21:45489400-45502600	Strong transcription	Lung	lung

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