Variant report

Variant	rs79468283
Chromosome Location	chr21:15905553-15905554
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15900972..15903079-chr21:15904912..15907876,2	K562	blood:
2	chr21:15903442..15906073-chr21:15908786..15911014,2	K562	blood:
3	chr21:15904288..15906853-chr21:15912996..15915455,2	K562	blood:
4	chr21:15904966..15908708-chr21:15954963..15957807,4	K562	blood:
5	chr21:15904847..15907317-chr21:16028940..16030930,2	K562	blood:
6	chr21:15904847..15906603-chr21:16029430..16031380,2	K562	blood:

Variant related genes	Relation type
ENSG00000155307	Chromatin interaction
ENSG00000243440	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059591	chr21:15835325-15969195	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1056423	chr21:15838309-15948474	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv544376	chr21:15855470-15948474	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1065823	chr21:15863224-15948474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1057934	chr21:15863224-15969195	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv913406	chr21:15875108-15905580	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1800015	chr21:15884475-15906590	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv913408	chr21:15885274-15905580	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv913409	chr21:15885274-15908642	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv459098	chr21:15886919-15906590	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv587046	chr21:15886919-15906590	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv913410	chr21:15889553-15906590	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1058533	chr21:15896056-15948474	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv544377	chr21:15896056-15948474	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv587047	chr21:15896422-15906590	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv834045	chr21:15900678-16112850	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv834046	chr21:15903792-16077369	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	esv2763685	chr21:15904945-15933282	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15896200-15906200	Weak transcription	Fetal Thymus	thymus
2	chr21:15899800-15906000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr21:15900000-15906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr21:15900000-15906000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr21:15901000-15906000	Weak transcription	Primary T cells from cord blood	blood
6	chr21:15901200-15905800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:15901200-15905800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:15902600-15906600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr21:15902800-15905800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr21:15903800-15906600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr21:15904000-15905800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr21:15904000-15906600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr21:15904200-15905800	Enhancers	GM12878-XiMat	blood
14	chr21:15904200-15906000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr21:15904200-15906000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr21:15904200-15908000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr21:15904200-15908400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr21:15904400-15906600	Enhancers	Primary B cells from peripheral blood	blood
19	chr21:15904600-15907400	Enhancers	Dnd41	blood
20	chr21:15904600-15907400	Enhancers	Hela-S3	cervix
21	chr21:15904600-15913600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr21:15904800-15905800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr21:15904800-15905800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr21:15904800-15905800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr21:15904800-15906000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:15904800-15906200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:15904800-15906600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr21:15905000-15905800	Weak transcription	K562	blood
29	chr21:15905200-15906600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:15905200-15907200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr21:15905400-15905800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr21:15905400-15905800	Enhancers	NHEK	skin
33	chr21:15905400-15906400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:15905400-15907400	Enhancers	HUVEC	blood vessel

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