Variant report

Variant	rs2212749
Chromosome Location	chr21:47668497-47668498
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47634175..47636209-chr21:47667716..47669378,2	K562	blood:
2	chr21:47668319..47672137-chr21:47672218..47675790,5	K562	blood:
3	chr21:47649475..47654213-chr21:47668159..47671239,4	MCF-7	breast:
4	chr21:47667196..47669409-chr21:47704030..47705670,2	K562	blood:
5	chr21:47667221..47670130-chr21:47742307..47744278,2	K562	blood:
6	chr21:47666574..47669180-chr21:47669554..47673164,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160294	Chromatin interaction
ENSG00000160298	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000239415	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11089051	1.00[ASN][1000 genomes]
rs11908812	1.00[ASN][1000 genomes]
rs12482002	1.00[ASN][1000 genomes]
rs12482343	1.00[ASN][1000 genomes]
rs12482741	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12482903	1.00[ASN][1000 genomes]
rs12482934	1.00[ASN][1000 genomes]
rs12483577	1.00[ASN][1000 genomes]
rs13046028	1.00[ASN][1000 genomes]
rs13047784	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16979054	1.00[ASN][1000 genomes]
rs17176534	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17176737	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17176779	1.00[ASN][1000 genomes]
rs17176793	1.00[ASN][1000 genomes]
rs17176800	1.00[ASN][1000 genomes]
rs17176905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17176926	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17176974	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17176988	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177030	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17182739	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17182746	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17183137	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17183151	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17183220	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17183368	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17183417	0.92[EUR][1000 genomes]
rs17183473	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297798	1.00[ASN][1000 genomes]
rs17297961	1.00[ASN][1000 genomes]
rs17298556	1.00[ASN][1000 genomes]
rs17369792	1.00[ASN][1000 genomes]
rs2839169	1.00[ASN][1000 genomes]
rs34268261	1.00[ASN][1000 genomes]
rs34500739	1.00[ASN][1000 genomes]
rs56693387	1.00[ASN][1000 genomes]
rs59613587	1.00[ASN][1000 genomes]
rs60751239	1.00[ASN][1000 genomes]
rs61181882	1.00[ASN][1000 genomes]
rs61448213	1.00[ASN][1000 genomes]
rs61735811	1.00[ASN][1000 genomes]
rs61735814	1.00[ASN][1000 genomes]
rs61735815	1.00[ASN][1000 genomes]
rs61736728	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62212860	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62214040	1.00[ASN][1000 genomes]
rs62214041	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62214042	1.00[ASN][1000 genomes]
rs62214043	1.00[ASN][1000 genomes]
rs62214045	1.00[ASN][1000 genomes]
rs62214046	1.00[ASN][1000 genomes]
rs62214051	1.00[ASN][1000 genomes]
rs62214052	1.00[ASN][1000 genomes]
rs62214055	1.00[ASN][1000 genomes]
rs62215182	1.00[ASN][1000 genomes]
rs62215183	1.00[ASN][1000 genomes]
rs62215184	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62215186	1.00[ASN][1000 genomes]
rs62215187	1.00[ASN][1000 genomes]
rs8126678	1.00[ASN][1000 genomes]
rs8134519	1.00[ASN][1000 genomes]
rs9977340	1.00[ASN][1000 genomes]
rs9979331	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
4	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
5	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
6	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
7	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
8	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
9	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
10	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats 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	95 gene(s)	inside rSNPs	n/a
11	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
12	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
13	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
14	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
15	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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	83 gene(s)	inside rSNPs	n/a
16	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
17	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
18	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
19	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
20	nsv914134	chr21:47632995-47712185	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a
21	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
22	nsv587975	chr21:47661235-47830843	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2212749	C21orf57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47649800-47701600	Weak transcription	Right Atrium	heart
2	chr21:47650000-47705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:47650600-47669800	Strong transcription	Skeletal Muscle Male	skeletal muscle
4	chr21:47650800-47701000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr21:47650800-47701400	Strong transcription	Fetal Muscle Leg	muscle
6	chr21:47650800-47701600	Strong transcription	Fetal Stomach	stomach
7	chr21:47651000-47703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:47651200-47701400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:47651600-47670400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:47651600-47673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:47651600-47679000	Strong transcription	HSMM	muscle
12	chr21:47651600-47703000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr21:47651600-47703200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr21:47651800-47681000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:47651800-47701400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:47651800-47702600	Strong transcription	Osteobl	bone
17	chr21:47652000-47701000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr21:47652000-47703000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr21:47652200-47701600	Strong transcription	Fetal Thymus	thymus
20	chr21:47652400-47685200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr21:47652400-47702000	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr21:47652800-47674600	Strong transcription	Adipose Nuclei	Adipose
23	chr21:47652800-47678000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:47652800-47702200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr21:47653000-47701600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr21:47653200-47696000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr21:47653200-47702000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr21:47653400-47686000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:47653600-47670400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr21:47653600-47701800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr21:47653600-47702400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr21:47654200-47670200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr21:47658200-47669800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr21:47658200-47670600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr21:47658200-47671800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr21:47658200-47681400	Strong transcription	Brain Hippocampus Middle	brain
37	chr21:47658200-47702200	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr21:47658400-47670200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr21:47658400-47670200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr21:47658400-47670600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr21:47658400-47671600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:47658400-47673800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr21:47658400-47702800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr21:47658600-47670200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr21:47658600-47670200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr21:47658600-47671000	Strong transcription	Right Ventricle	heart
47	chr21:47658600-47671400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr21:47658600-47671800	Strong transcription	NH-A	brain
49	chr21:47658600-47673000	Strong transcription	Primary B cells from cord blood	blood
50	chr21:47658600-47673600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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