Variant report

Variant	rs2186929
Chromosome Location	chr21:45348363-45348364
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45347889..45351135-chr21:45352926..45356421,4	MCF-7	breast:
2	chr21:45346227..45347778-chr21:45348105..45349970,2	MCF-7	breast:
3	chr21:45341393..45343529-chr21:45348103..45349848,2	MCF-7	breast:
4	chr21:45283505..45286463-chr21:45348240..45352791,7	MCF-7	breast:
5	chr21:45283531..45287054-chr21:45347082..45351012,6	MCF-7	breast:
6	chr21:45341019..45344772-chr21:45346724..45351005,5	MCF-7	breast:
7	chr21:45324387..45327703-chr21:45346695..45349157,3	MCF-7	breast:
8	chr21:45348204..45349934-chr21:45358596..45359626,8	MCF-7	breast:
9	chr21:45347618..45349669-chr21:45357451..45359063,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1005192	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1573474	0.95[JPT][hapmap]
rs1888525	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838435	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838439	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3827246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4819340	0.94[EUR][1000 genomes]
rs4819345	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819348	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819350	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6518334	0.85[EUR][1000 genomes]
rs6518335	0.90[EUR][1000 genomes]
rs6518337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6518338	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7276578	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs762411	0.86[JPT][hapmap]
rs762415	0.86[JPT][hapmap]
rs8127341	0.89[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs914196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9306164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9306165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9306166	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9974282	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9978688	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9985035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs999519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	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
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45336400-45351600	Weak transcription	Fetal Brain Female	brain
2	chr21:45337200-45350800	Weak transcription	Fetal Brain Male	brain
3	chr21:45337600-45358600	Weak transcription	Osteobl	bone
4	chr21:45338800-45358600	Weak transcription	Hela-S3	cervix
5	chr21:45340800-45358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:45341400-45358600	Weak transcription	A549	lung
7	chr21:45342200-45357000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr21:45342200-45358800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr21:45342400-45348400	Weak transcription	Fetal Kidney	kidney
10	chr21:45342400-45356400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr21:45342600-45350400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:45342600-45353000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr21:45342600-45354600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:45342800-45350600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr21:45342800-45351000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:45343000-45357600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
18	chr21:45343400-45355200	Weak transcription	Brain Germinal Matrix	brain
19	chr21:45343400-45355600	Weak transcription	Brain Angular Gyrus	brain
20	chr21:45343600-45349800	Strong transcription	GM12878-XiMat	blood
21	chr21:45343600-45358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr21:45343800-45348400	Weak transcription	NHEK	skin
23	chr21:45343800-45356000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr21:45343800-45356200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr21:45343800-45357600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr21:45343800-45358600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:45343800-45358600	Weak transcription	HSMM	muscle
28	chr21:45343800-45358800	Weak transcription	Ovary	ovary
29	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:45344000-45348400	Weak transcription	NHDF-Ad	bronchial
31	chr21:45344000-45350000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr21:45344000-45357200	Strong transcription	Fetal Stomach	stomach
33	chr21:45344200-45352200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr21:45344400-45350200	Strong transcription	Thymus	Thymus
35	chr21:45344400-45350400	Strong transcription	Dnd41	blood
36	chr21:45344400-45358400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr21:45344600-45349800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr21:45344600-45352400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr21:45344800-45348800	Weak transcription	Brain Hippocampus Middle	brain
40	chr21:45344800-45348800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr21:45345000-45350000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr21:45345200-45348400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr21:45345200-45349600	Weak transcription	Brain Substantia Nigra	brain
44	chr21:45345200-45358600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr21:45345400-45349200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr21:45345400-45353000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr21:45345400-45358600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr21:45345600-45348400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr21:45345600-45348400	Weak transcription	Fetal Heart	heart
50	chr21:45345600-45349400	Genic enhancers	Fetal Intestine Small	intestine

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