Variant report

Variant	rs549893204
Chromosome Location	chr21:44918254-44918255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44913569..44916959-chr21:44917497..44921169,3	K562	blood:
2	chr21:44903235..44910338-chr21:44918042..44927375,22	MCF-7	breast:
3	chr21:44870566..44873425-chr21:44917940..44920112,2	MCF-7	breast:
4	chr21:44841823..44851058-chr21:44912330..44925700,37	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	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
2	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
3	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
4	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
5	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
6	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
7	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	nsv913852	chr21:44829087-44925334	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
9	nsv913860	chr21:44831981-44925334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS 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	95 gene(s)	inside rSNPs	diseases
10	nsv913867	chr21:44835508-44925334	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
11	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	98 gene(s)	inside rSNPs	diseases
12	nsv913872	chr21:44860542-44925334	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
14	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	nsv587689	chr21:44884252-44986050	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
16	nsv1061369	chr21:44886596-44931388	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv544468	chr21:44886596-44931388	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv1059264	chr21:44895863-44944515	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
19	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
20	esv3421691	chr21:44917724-44922022	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44912800-44918400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr21:44914600-44921800	Weak transcription	Colonic Mucosa	Colon
3	chr21:44914600-44921800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr21:44914600-44922200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:44914800-44922000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr21:44915000-44918600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr21:44915000-44919600	Weak transcription	Esophagus	oesophagus
8	chr21:44915000-44921800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:44915000-44921800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr21:44915000-44922000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr21:44915000-44922400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:44915000-44922400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr21:44915400-44922200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:44915600-44918400	Enhancers	HSMM	muscle
15	chr21:44916800-44920600	Enhancers	Fetal Muscle Leg	muscle
16	chr21:44916800-44921000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:44916800-44921200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:44916800-44924200	Enhancers	HMEC	breast
19	chr21:44917000-44919000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:44917000-44919200	Enhancers	NH-A	brain
21	chr21:44917200-44918600	Enhancers	A549	lung
22	chr21:44917200-44919400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:44917200-44921200	Enhancers	NHEK	skin
24	chr21:44917400-44918400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr21:44917400-44918400	Enhancers	HSMMtube	muscle
26	chr21:44917400-44918800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:44917400-44919000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:44917400-44919000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:44917400-44919200	Enhancers	NHLF	lung
30	chr21:44917400-44919600	Enhancers	Fetal Muscle Trunk	muscle
31	chr21:44917400-44923600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:44917600-44918400	Bivalent Enhancer	Fetal Stomach	stomach
33	chr21:44917600-44919000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr21:44917600-44919200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr21:44917600-44919600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr21:44917800-44918400	Enhancers	HUVEC	blood vessel
37	chr21:44917800-44918600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr21:44917800-44918600	Enhancers	Ovary	ovary
39	chr21:44917800-44918800	Flanking Active TSS	Hela-S3	cervix
40	chr21:44917800-44919000	Enhancers	Left Ventricle	heart
41	chr21:44917800-44919200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr21:44917800-44919200	Enhancers	Lung	lung
43	chr21:44917800-44919400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr21:44917800-44919400	Enhancers	Placenta	Placenta
45	chr21:44917800-44919600	Enhancers	Fetal Heart	heart
46	chr21:44917800-44920200	Enhancers	Right Ventricle	heart
47	chr21:44917800-44921000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr21:44917800-44921000	Enhancers	HepG2	liver
49	chr21:44918000-44918400	Enhancers	Brain Anterior Caudate	brain
50	chr21:44918000-44918400	Enhancers	Pancreas	Pancrea

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