Variant report

Variant	rs2142217
Chromosome Location	chr21:16431406-16431407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16248683..16251688-chr21:16431357..16434252,3	MCF-7	breast:
2	chr21:16235181..16239841-chr21:16427951..16432204,4	MCF-7	breast:
3	chr21:16431111..16433395-chr21:16603127..16605498,2	MCF-7	breast:
4	chr21:16326244..16328555-chr21:16431229..16433465,2	MCF-7	breast:
5	chr21:16422646..16426145-chr21:16428439..16434126,5	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11910783	1.00[EUR][1000 genomes]
rs2228508	1.00[EUR][1000 genomes]
rs7281889	1.00[EUR][1000 genomes]
rs7281969	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16420400-16434800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:16422800-16435200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:16423600-16435200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:16423800-16435200	Weak transcription	Fetal Brain Male	brain
5	chr21:16424400-16435400	Weak transcription	Gastric	stomach
6	chr21:16425800-16433000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr21:16426600-16434600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr21:16427600-16433200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:16427600-16435200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr21:16427800-16435000	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr21:16428400-16435200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr21:16428600-16432000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr21:16428800-16431600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr21:16428800-16431800	Enhancers	Colon Smooth Muscle	Colon
15	chr21:16428800-16435200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr21:16429000-16432200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr21:16429000-16434400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr21:16429000-16434800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr21:16429000-16439200	Active TSS	A549	lung
20	chr21:16429200-16431600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr21:16429200-16431600	Enhancers	Primary B cells from peripheral blood	blood
22	chr21:16429200-16431600	Enhancers	Brain Anterior Caudate	brain
23	chr21:16429200-16431600	Enhancers	Fetal Lung	lung
24	chr21:16429200-16433200	Enhancers	Dnd41	blood
25	chr21:16429400-16432000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:16429400-16433400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:16429600-16432000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr21:16429800-16431600	Enhancers	Brain Angular Gyrus	brain
29	chr21:16429800-16435000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr21:16429800-16435000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr21:16429800-16435200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr21:16430000-16431800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr21:16430000-16433200	Weak transcription	Right Ventricle	heart
34	chr21:16430000-16433200	Weak transcription	Spleen	Spleen
35	chr21:16430000-16434400	Weak transcription	Colonic Mucosa	Colon
36	chr21:16430000-16435000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr21:16430000-16435200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr21:16430000-16435400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr21:16430000-16435400	Weak transcription	Pancreas	Pancrea
40	chr21:16430000-16436000	Weak transcription	Aorta	Aorta
41	chr21:16430000-16436000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr21:16430200-16431600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr21:16430200-16432000	Enhancers	Hela-S3	cervix
44	chr21:16430200-16434200	Enhancers	Rectal Smooth Muscle	rectum
45	chr21:16430200-16435400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr21:16430400-16432000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr21:16430400-16433000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr21:16430400-16433200	Weak transcription	Left Ventricle	heart
49	chr21:16430400-16434200	Weak transcription	Brain Substantia Nigra	brain
50	chr21:16430400-16435400	Weak transcription	Primary T cells fromperipheralblood	blood

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