Variant report

Variant	rs554105079
Chromosome Location	chr21:44786993-44786994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44785083..44788037-chr21:44788095..44789736,2	MCF-7	breast:
2	chr21:44781079..44785202-chr21:44785903..44790540,5	MCF-7	breast:
3	chr21:44776523..44779015-chr21:44786732..44788307,2	MCF-7	breast:
4	chr21:44786597..44791011-chr21:44796414..44799261,3	MCF-7	breast:
5	chr21:44784945..44787524-chr21:44806309..44807951,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225637	Chromatin interaction
ENSG00000237989	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv913842	chr21:44764895-44792929	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	esv3437918	chr21:44786624-44790922	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44777400-44788600	Enhancers	Fetal Brain Male	brain
2	chr21:44780200-44788400	Enhancers	Spleen	Spleen
3	chr21:44782200-44791600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr21:44782400-44789800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:44782600-44787000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:44782600-44787000	Weak transcription	Brain Substantia Nigra	brain
7	chr21:44782600-44787800	Enhancers	Fetal Muscle Leg	muscle
8	chr21:44782600-44788800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:44782600-44790400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:44782800-44787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:44782800-44788600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr21:44782800-44790000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr21:44783000-44788800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:44783000-44789000	Weak transcription	HMEC	breast
15	chr21:44783000-44790000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr21:44783400-44788600	Weak transcription	Esophagus	oesophagus
17	chr21:44783800-44788200	Weak transcription	GM12878-XiMat	blood
18	chr21:44784200-44788200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr21:44784200-44788800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr21:44784800-44789000	Enhancers	Brain Germinal Matrix	brain
21	chr21:44784800-44791400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr21:44785000-44789600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr21:44785200-44791000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr21:44785400-44788600	Enhancers	Brain Anterior Caudate	brain
25	chr21:44785400-44788600	Weak transcription	Gastric	stomach
26	chr21:44785400-44789400	Weak transcription	Fetal Thymus	thymus
27	chr21:44785600-44790400	Weak transcription	Fetal Intestine Large	intestine
28	chr21:44785600-44790800	Enhancers	Brain Angular Gyrus	brain
29	chr21:44785800-44790000	Weak transcription	Right Atrium	heart
30	chr21:44786000-44790800	Enhancers	Brain Cingulate Gyrus	brain
31	chr21:44786200-44787200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr21:44786200-44788600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:44786200-44788600	Weak transcription	Fetal Heart	heart
34	chr21:44786200-44789400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr21:44786200-44790400	Weak transcription	Fetal Intestine Small	intestine
36	chr21:44786200-44791200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr21:44786400-44789000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr21:44786800-44787000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:44786800-44787000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr21:44786800-44787800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr21:44786800-44787800	Enhancers	Fetal Lung	lung
42	chr21:44786800-44788000	Weak transcription	Fetal Brain Female	brain
43	chr21:44786800-44788800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:44786800-44789000	Enhancers	Brain Hippocampus Middle	brain

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