Variant report

Variant	rs2282116
Chromosome Location	chr21:46292256-46292257
allele	A/G
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:46231216..46239677-chr21:46289090..46295542,14	K562	blood:
2	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
3	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
4	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
5	chr19:39335285..39337048-chr21:46290079..46292955,2	MCF-7	breast:
6	chr21:46291916..46297365-chr21:46358001..46363812,14	MCF-7	breast:
7	chr21:46220413..46223818-chr21:46291771..46295209,8	K562	blood:
8	chr21:46292072..46295985-chr21:46328607..46334685,5	MCF-7	breast:
9	chr21:46280336..46283440-chr21:46291266..46293624,3	K562	blood:
10	chr21:46220930..46225769-chr21:46292170..46294469,5	K562	blood:
11	chr21:46265359..46266619-chr21:46291943..46292855,4	MCF-7	breast:
12	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
13	chr21:46219802..46220657-chr21:46291980..46292897,2	MCF-7	breast:
14	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
15	chr15:65588153..65588988-chr21:46292057..46292933,2	Hela-S3	cervix:
16	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
17	chr21:46289780..46292382-chr21:46492719..46495344,2	MCF-7	breast:
18	chr21:46292148..46294278-chr21:46308549..46311972,5	MCF-7	breast:
19	chr21:46226554..46228509-chr21:46290759..46292691,2	K562	blood:
20	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160256	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000269688	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13047791	1.00[CEU][hapmap]
rs13051307	0.81[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs13051895	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17004706	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17004710	0.91[CHB][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs2282111	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838705	1.00[CEU][hapmap]
rs33973568	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34037159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34449239	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34552233	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34897870	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35101060	0.81[EUR][1000 genomes]
rs3753015	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4818736	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4818738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818981	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4818982	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4818983	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55831723	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57064200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66506615	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs873317	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs9808690	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv470907	chr21:46283669-46306161	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv459299	chr21:46283669-46311264	Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv459300	chr21:46283669-46311264	Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv587814	chr21:46283669-46311264	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46289400-46292400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr21:46289600-46292400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr21:46289600-46292600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:46289600-46292600	Flanking Active TSS	Osteobl	bone
5	chr21:46289800-46292600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr21:46289800-46296000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:46290000-46292400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:46290400-46292400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr21:46290400-46292600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr21:46290600-46292400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:46290600-46292400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr21:46290600-46292400	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr21:46290600-46292400	Flanking Active TSS	Hela-S3	cervix
14	chr21:46290600-46292600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr21:46290600-46292600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr21:46290600-46292600	Enhancers	Spleen	Spleen
17	chr21:46290600-46292800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:46290600-46292800	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr21:46290600-46292800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr21:46290600-46292800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr21:46290600-46292800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr21:46290600-46292800	Flanking Active TSS	NH-A	brain
23	chr21:46290600-46293000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr21:46290600-46293000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr21:46290600-46293000	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr21:46290600-46293000	Flanking Active TSS	HMEC	breast
27	chr21:46290600-46293000	Flanking Active TSS	K562	blood
28	chr21:46290600-46293200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:46290600-46293200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:46290800-46292400	Flanking Active TSS	NHLF	lung
31	chr21:46290800-46292600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr21:46290800-46292600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr21:46290800-46292800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr21:46290800-46292800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr21:46290800-46292800	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr21:46290800-46292800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr21:46290800-46292800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr21:46290800-46292800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr21:46290800-46293000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr21:46291000-46292800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr21:46291200-46292400	Flanking Active TSS	Stomach Mucosa	stomach
42	chr21:46291200-46292600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr21:46291200-46292600	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr21:46291200-46292800	Flanking Active TSS	Right Ventricle	heart
45	chr21:46291200-46293000	Bivalent/Poised TSS	HepG2	liver
46	chr21:46291200-46295200	Active TSS	Aorta	Aorta
47	chr21:46291400-46292600	Flanking Active TSS	Fetal Brain Female	brain
48	chr21:46291400-46292600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
49	chr21:46291400-46293000	Flanking Active TSS	Placenta	Placenta
50	chr21:46291600-46292400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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