Variant report

Variant	rs570557225
Chromosome Location	chr21:46308248-46308249
allele	-/TG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46292296..46294374-chr21:46306202..46308444,3	K562	blood:
2	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
3	chr21:46220554..46223722-chr21:46306934..46310028,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184787	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000183255	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv470908	chr21:46298869-46335580	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
16	nsv933240	chr21:46305956-46371518	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
17	esv3420506	chr21:46306074-46308872	Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
18	nsv913971	chr21:46306161-46322487	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
19	nsv459301	chr21:46306161-46322853	Bivalent Enhancer Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
20	nsv587815	chr21:46306161-46322853	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
21	nsv913972	chr21:46306161-46322853	Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
22	nsv516593	chr21:46306161-46323731	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
23	nsv913973	chr21:46306161-46323731	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
24	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
25	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
26	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
27	nsv587816	chr21:46307495-46322853	Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
2	chr21:46298400-46326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46300400-46310000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr21:46302200-46309800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:46302400-46309600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr21:46302600-46310000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr21:46303000-46310800	Weak transcription	Fetal Intestine Small	intestine
8	chr21:46304200-46308400	Weak transcription	Placenta	Placenta
9	chr21:46304400-46308600	Weak transcription	Esophagus	oesophagus
10	chr21:46304600-46313000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr21:46305400-46308800	Enhancers	Liver	Liver
12	chr21:46305400-46311600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr21:46305400-46312000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr21:46305400-46312200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr21:46305400-46312200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr21:46305400-46312200	Strong transcription	Fetal Thymus	thymus
17	chr21:46305400-46312600	Strong transcription	Primary T cells from cord blood	blood
18	chr21:46305400-46312600	Strong transcription	Thymus	Thymus
19	chr21:46305400-46312800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr21:46305400-46312800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr21:46305400-46315000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr21:46305400-46315800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr21:46305400-46316600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr21:46305400-46322400	Strong transcription	Dnd41	blood
25	chr21:46305400-46325000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr21:46305600-46309400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:46305600-46311800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr21:46305600-46311800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr21:46305800-46318800	Weak transcription	Gastric	stomach
30	chr21:46306000-46318400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:46306400-46308800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr21:46306400-46309600	Strong transcription	Primary B cells from cord blood	blood
33	chr21:46306400-46310200	Weak transcription	Colonic Mucosa	Colon
34	chr21:46306400-46317200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr21:46307000-46308600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr21:46307000-46317600	Weak transcription	GM12878-XiMat	blood
37	chr21:46307200-46312000	Genic enhancers	Spleen	Spleen
38	chr21:46307400-46308400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr21:46307600-46309800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr21:46307800-46308800	Enhancers	Right Ventricle	heart
41	chr21:46307800-46309200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr21:46307800-46310400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr21:46308000-46311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr21:46308200-46308800	Enhancers	HepG2	liver
45	chr21:46308200-46311800	Strong transcription	Lung	lung
46	chr21:46308200-46312600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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