Variant report

Variant	rs540550926
Chromosome Location	chr21:44804009-44804010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44803166..44805208-chr21:44860912..44863687,2	MCF-7	breast:
2	chr21:44802031..44804189-chr21:44807658..44809517,2	MCF-7	breast:
3	chr21:44801690..44804651-chr21:44845741..44847984,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1063186	chr21:44729904-44828476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv544467	chr21:44729904-44828476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
12	nsv913840	chr21:44750643-44823479	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	nsv913843	chr21:44774757-44810756	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
16	nsv913845	chr21:44781356-44874702	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
17	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
18	nsv913846	chr21:44792003-44824854	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
20	esv3427724	chr21:44803524-44806822	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
2	chr21:44795400-44814200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:44798400-44805600	Enhancers	Primary B cells from peripheral blood	blood
4	chr21:44799000-44804400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr21:44799200-44805000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:44800200-44808400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:44800400-44814200	Weak transcription	Hela-S3	cervix
8	chr21:44800600-44804600	Enhancers	Primary B cells from cord blood	blood
9	chr21:44800600-44805000	Weak transcription	Fetal Brain Female	brain
10	chr21:44800800-44804600	Enhancers	Primary hematopoietic stem cells	blood
11	chr21:44802200-44804400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr21:44802400-44805000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr21:44802600-44804600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr21:44802600-44805000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr21:44802600-44805200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr21:44802600-44806600	Enhancers	Fetal Thymus	thymus
17	chr21:44802600-44810000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr21:44802800-44804400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr21:44802800-44805000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr21:44802800-44805200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr21:44803000-44804600	Weak transcription	HMEC	breast
22	chr21:44803000-44805000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:44803000-44809200	Enhancers	Fetal Brain Male	brain
24	chr21:44803200-44804200	Weak transcription	GM12878-XiMat	blood
25	chr21:44803200-44804600	Enhancers	Right Ventricle	heart
26	chr21:44803400-44805200	Enhancers	Primary T cells from cord blood	blood
27	chr21:44803400-44808000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr21:44803600-44804800	Enhancers	HepG2	liver
29	chr21:44803600-44805000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:44803600-44806200	Enhancers	Spleen	Spleen
31	chr21:44803600-44807400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr21:44803800-44804400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr21:44803800-44804600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr21:44803800-44804600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr21:44803800-44804800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:44803800-44805000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr21:44803800-44805200	Weak transcription	Brain Germinal Matrix	brain
38	chr21:44803800-44807000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr21:44803800-44807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr21:44803800-44807000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr21:44803800-44807200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr21:44803800-44807200	Weak transcription	Fetal Lung	lung
43	chr21:44803800-44807400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr21:44803800-44807400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr21:44803800-44807400	Weak transcription	Brain Anterior Caudate	brain
46	chr21:44803800-44807400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr21:44804000-44806600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:44804000-44807000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr21:44804000-44807000	Weak transcription	Brain Hippocampus Middle	brain
50	chr21:44804000-44807000	Weak transcription	Fetal Muscle Leg	muscle

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