Variant report

Variant	rs999519
Chromosome Location	chr21:45345320-45345321
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45334297..45336681-chr21:45344684..45347847,3	MCF-7	breast:
2	chr21:45228584..45234568-chr21:45342221..45347972,7	K562	blood:
3	chr21:45284985..45287311-chr21:45344207..45345768,2	K562	blood:
4	chr21:45283663..45287678-chr21:45338795..45345768,12	K562	blood:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000215458	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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1573474	0.95[JPT][hapmap]
rs1888525	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2070547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2186929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838435	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838439	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3827246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819340	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4819345	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4819350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6518334	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs6518335	0.89[EUR][1000 genomes]
rs6518337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6518338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7276578	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs762411	0.86[JPT][hapmap]
rs762415	0.86[JPT][hapmap]
rs8127341	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs914196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9306164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9306165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9306166	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9974282	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9978688	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9985035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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:115 , 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	chr21:45339800-45346400	Enhancers	Right Ventricle	heart
6	chr21:45340000-45346400	Enhancers	Adipose Nuclei	Adipose
7	chr21:45340600-45346000	Enhancers	Esophagus	oesophagus
8	chr21:45340800-45358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:45341000-45346200	Enhancers	Left Ventricle	heart
10	chr21:45341400-45358600	Weak transcription	A549	lung
11	chr21:45341600-45345600	Enhancers	Fetal Heart	heart
12	chr21:45341600-45345800	Enhancers	Psoas Muscle	Psoas
13	chr21:45342200-45357000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr21:45342200-45358800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr21:45342400-45345400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr21:45342400-45345800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr21:45342400-45348000	Weak transcription	Primary B cells from cord blood	blood
18	chr21:45342400-45348400	Weak transcription	Fetal Kidney	kidney
19	chr21:45342400-45356400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr21:45342600-45345400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr21:45342600-45347600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr21:45342600-45348000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr21:45342600-45350400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:45342600-45353000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr21:45342600-45354600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:45342800-45347600	Weak transcription	Aorta	Aorta
27	chr21:45342800-45350600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr21:45342800-45351000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr21:45343000-45345400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:45343000-45345600	Enhancers	Stomach Mucosa	stomach
31	chr21:45343000-45357600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
33	chr21:45343200-45347400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr21:45343400-45355200	Weak transcription	Brain Germinal Matrix	brain
35	chr21:45343400-45355600	Weak transcription	Brain Angular Gyrus	brain
36	chr21:45343600-45347400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr21:45343600-45347600	Weak transcription	NHLF	lung
38	chr21:45343600-45349800	Strong transcription	GM12878-XiMat	blood
39	chr21:45343600-45358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr21:45343800-45345600	Weak transcription	Pancreas	Pancrea
41	chr21:45343800-45348000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr21:45343800-45348000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr21:45343800-45348000	Weak transcription	Colon Smooth Muscle	Colon
44	chr21:45343800-45348400	Weak transcription	NHEK	skin
45	chr21:45343800-45356000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr21:45343800-45356200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr21:45343800-45357600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr21:45343800-45358600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:45343800-45358600	Weak transcription	HSMM	muscle
50	chr21:45343800-45358800	Weak transcription	Ovary	ovary

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