Variant report

Variant	rs2839264
Chromosome Location	chr21:47866227-47866228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47863341..47867435-chr21:47876892..47880530,6	MCF-7	breast:
2	chr21:47743457..47745446-chr21:47865671..47867261,2	MCF-7	breast:
3	chr21:47862980..47864520-chr21:47866153..47868184,2	MCF-7	breast:
4	chr21:47743572..47745871-chr21:47865711..47867452,2	MCF-7	breast:
5	chr21:47850026..47853231-chr21:47864419..47867028,3	K562	blood:

Variant related genes	Relation type
ENSG00000160298	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000160305	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11508685	1.00[ASN][1000 genomes]
rs1556338	1.00[ASN][1000 genomes]
rs16979254	1.00[ASN][1000 genomes]
rs1892693	1.00[ASN][1000 genomes]
rs2839219	1.00[ASN][1000 genomes]
rs2839252	1.00[ASN][1000 genomes]
rs2839266	1.00[ASN][1000 genomes]
rs2839303	1.00[ASN][1000 genomes]
rs2839315	1.00[ASN][1000 genomes]
rs2839316	1.00[ASN][1000 genomes]
rs4365550	1.00[ASN][1000 genomes]
rs4438580	1.00[ASN][1000 genomes]
rs55808731	1.00[ASN][1000 genomes]
rs55878170	1.00[ASN][1000 genomes]
rs56034615	1.00[ASN][1000 genomes]
rs56083834	1.00[ASN][1000 genomes]
rs7283507	1.00[ASN][1000 genomes]
rs73144798	1.00[ASN][1000 genomes]
rs73146707	1.00[ASN][1000 genomes]
rs73146709	1.00[ASN][1000 genomes]
rs73146739	1.00[ASN][1000 genomes]
rs73148704	1.00[ASN][1000 genomes]
rs73152856	1.00[ASN][1000 genomes]
rs747439	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
21	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
22	nsv914142	chr21:47772468-47866227	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
23	nsv914144	chr21:47792874-47866227	Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
24	nsv587995	chr21:47803949-47877594	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
25	nsv914145	chr21:47804438-47866227	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
26	nsv1056321	chr21:47835146-47973412	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
27	nsv917208	chr21:47836346-47988603	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
28	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
29	nsv459312	chr21:47856106-47985655	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
30	nsv587998	chr21:47856106-47985655	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
31	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2839264	C21orf56	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47803200-47872400	Weak transcription	Fetal Kidney	kidney
2	chr21:47827400-47866600	Strong transcription	Fetal Stomach	stomach
3	chr21:47828600-47872400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:47829400-47867800	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr21:47834000-47868200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:47834200-47868200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:47836800-47872400	Weak transcription	Right Atrium	heart
8	chr21:47843400-47867400	Strong transcription	Dnd41	blood
9	chr21:47843800-47867600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr21:47843800-47868400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr21:47844200-47866800	Strong transcription	Brain Germinal Matrix	brain
12	chr21:47844200-47867400	Strong transcription	Fetal Brain Female	brain
13	chr21:47844800-47867400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:47845200-47867400	Strong transcription	Thymus	Thymus
15	chr21:47845400-47867400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr21:47845600-47867200	Strong transcription	Fetal Muscle Leg	muscle
17	chr21:47845600-47877400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr21:47847600-47866800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr21:47851000-47876000	Weak transcription	Small Intestine	intestine
20	chr21:47852200-47867800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr21:47853200-47866800	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr21:47854000-47868000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr21:47854400-47866400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:47854600-47866600	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr21:47854600-47866800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr21:47857400-47867400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr21:47857400-47868600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr21:47857600-47867200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:47857800-47868000	Strong transcription	Placenta	Placenta
30	chr21:47858000-47867800	Strong transcription	Fetal Thymus	thymus
31	chr21:47858200-47866800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr21:47858400-47877400	Weak transcription	Stomach Mucosa	stomach
33	chr21:47861200-47874000	Weak transcription	NH-A	brain
34	chr21:47861400-47869600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr21:47861600-47868200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr21:47862000-47866800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr21:47862000-47867600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr21:47862000-47874000	Weak transcription	Psoas Muscle	Psoas
39	chr21:47862000-47876800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr21:47862200-47868800	Weak transcription	Primary B cells from cord blood	blood
41	chr21:47862400-47867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr21:47862400-47876200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr21:47862600-47867200	Weak transcription	Fetal Brain Male	brain
44	chr21:47862800-47869200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr21:47863000-47866600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr21:47863000-47877200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr21:47863200-47866600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:47863200-47866800	Weak transcription	Fetal Lung	lung
49	chr21:47863200-47870800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr21:47863200-47874000	Weak transcription	Colon Smooth Muscle	Colon

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