Variant report

Variant	rs2839211
Chromosome Location	chr21:47740010-47740011
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr21:47739824-47741810	K562	blood:	n/a	n/a
2	POLR2A	chr21:47740008-47740674	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr21:47739612-47740031	K562	blood:	n/a	chr21:47739761-47739772
4	POLR2A	chr21:47736947-47745446	HepG2	liver:	n/a	n/a
5	CEBPB	chr21:47739584-47740115	K562	blood:	n/a	chr21:47739761-47739772
6	POLR2A	chr21:47736556-47745784	GM12891	blood:	n/a	n/a
7	POLR2A	chr21:47739906-47740013	HepG2	liver:	n/a	n/a
8	POLR2A	chr21:47736464-47744802	K562	blood:	n/a	n/a
9	NR2F2	chr21:47739703-47741116	K562	blood:	n/a	n/a
10	KAP1	chr21:47739822-47740780	K562	blood:	n/a	n/a
11	POLR2A	chr21:47737657-47744434	PFSK-1	brain:	n/a	n/a
12	TEAD4	chr21:47739841-47740998	K562	blood:	n/a	n/a
13	POLR2A	chr21:47739839-47741798	K562	blood:	n/a	n/a
14	TEAD4	chr21:47739923-47740999	K562	blood:	n/a	n/a
15	POLR2A	chr21:47739944-47745763	PBDE	blood:	n/a	n/a
16	POLR2A	chr21:47739803-47740070	HepG2	liver:	n/a	n/a
17	POLR2A	chr21:47739990-47740747	K562	blood:	n/a	n/a
18	POLR2A	chr21:47739641-47745736	SK-N-MC	brain:	n/a	n/a
19	GATA1	chr21:47739829-47741710	PBDE	blood:	n/a	chr21:47740336-47740344
20	POLR2A	chr21:47739866-47745534	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
2	chr21:47685253..47687082-chr21:47738865..47741678,2	K562	blood:
3	chr21:47702524..47712328-chr21:47732975..47746274,46	K562	blood:
4	chr21:47557678..47559650-chr21:47738521..47740524,2	K562	blood:
5	chr21:47705068..47711362-chr21:47735611..47740059,7	MCF-7	breast:

No data

Variant related genes	Relation type
PCNT	TF binding region
C21orf58	TF binding region
ENSG00000160282	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000160294	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11089060	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2015083	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2236616	1.00[YRI][hapmap]
rs2249057	0.82[YRI][hapmap]
rs2839193	1.00[JPT][hapmap]
rs2839210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2839217	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2839250	0.91[YRI][hapmap]
rs2839258	0.90[YRI][hapmap]
rs55696586	0.86[ASN][1000 genomes]
rs56107738	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56134439	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9975588	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:32 , 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	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
21	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
22	nsv432159	chr21:47673247-47854392	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a
23	nsv527355	chr21:47678774-47863025	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
24	nsv914135	chr21:47681041-47762374	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
25	nsv914136	chr21:47681041-47900994	Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	n/a
26	nsv1064588	chr21:47700051-47788823	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
27	nsv544496	chr21:47700051-47788823	Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
28	nsv914137	chr21:47700498-47862624	Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
29	nsv914138	chr21:47700498-47866227	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	n/a
30	nsv914139	chr21:47706737-47786494	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
31	nsv914140	chr21:47712185-47866227	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a
32	nsv914141	chr21:47712412-47757419	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2839211	C21orf57	Cis_1M	lymphoblastoid	RTeQTL
rs2839211	YBEY	cis	Muscle Skeletal	GTEx
rs2839211	C21orf57	cis	Cerebellum	GTEx
rs2839211	SPATC1L	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47718200-47740800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr21:47718200-47742000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr21:47718200-47742200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr21:47718400-47740200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr21:47718400-47740600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr21:47718400-47741600	Weak transcription	Fetal Brain Male	brain
7	chr21:47718400-47742200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:47718400-47742200	Weak transcription	Right Atrium	heart
9	chr21:47719600-47740200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:47720200-47740600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr21:47722400-47742000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr21:47722400-47742200	Weak transcription	Gastric	stomach
13	chr21:47725000-47740400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:47725000-47742200	Weak transcription	Adipose Nuclei	Adipose
15	chr21:47725000-47742200	Weak transcription	Brain Hippocampus Middle	brain
16	chr21:47725000-47742200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr21:47725000-47742400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr21:47725200-47740600	Weak transcription	Primary B cells from cord blood	blood
19	chr21:47725200-47740600	Weak transcription	NHEK	skin
20	chr21:47725200-47741200	Weak transcription	Fetal Kidney	kidney
21	chr21:47725200-47741200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr21:47725200-47741400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:47725200-47742000	Weak transcription	Ovary	ovary
24	chr21:47725200-47742200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr21:47725200-47742600	Weak transcription	Brain Substantia Nigra	brain
26	chr21:47725400-47741200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr21:47728000-47740600	Weak transcription	Osteobl	bone
28	chr21:47728000-47741000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr21:47728000-47741200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:47728000-47742200	Weak transcription	Brain Anterior Caudate	brain
31	chr21:47728600-47740400	Weak transcription	NH-A	brain
32	chr21:47728800-47740600	Weak transcription	Primary T cells from cord blood	blood
33	chr21:47729000-47740400	Weak transcription	NHDF-Ad	bronchial
34	chr21:47729800-47740400	Weak transcription	HUVEC	blood vessel
35	chr21:47731600-47740600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr21:47733600-47740400	Weak transcription	Fetal Lung	lung
37	chr21:47735200-47741200	Weak transcription	A549	lung
38	chr21:47735600-47742200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr21:47736000-47740600	Weak transcription	Fetal Brain Female	brain
40	chr21:47736000-47741400	Weak transcription	HMEC	breast
41	chr21:47736000-47741600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr21:47736000-47741600	Weak transcription	Esophagus	oesophagus
43	chr21:47737400-47741400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr21:47737800-47740600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr21:47737800-47740600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr21:47738000-47740600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr21:47738200-47742400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr21:47738400-47740600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr21:47738400-47742200	Weak transcription	Lung	lung
50	chr21:47738600-47740200	Enhancers	Primary hematopoietic stem cells	blood

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