Variant report

Variant	rs559288177
Chromosome Location	chr21:17106268-17106269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17104177..17106318-chr21:17123933..17125566,2	K562	blood:
2	chr21:17105250..17107735-chr21:17192810..17196080,3	K562	blood:
3	chr21:17104741..17106433-chr21:17217279..17219157,2	K562	blood:
4	chr21:17104089..17106756-chr21:17109896..17112248,2	MCF-7	breast:
5	chr21:17105614..17107368-chr21:17115723..17117449,2	MCF-7	breast:
6	chr21:17104587..17106311-chr21:17139989..17141909,2	K562	blood:

Variant related genes	Relation type
ENSG00000234159	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv2830057	chr21:16960590-17113148	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	esv1815433	chr21:17106192-17167353	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17103200-17114400	Weak transcription	Spleen	Spleen
2	chr21:17103400-17114400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:17103800-17106400	Enhancers	Primary B cells from peripheral blood	blood
4	chr21:17103800-17106600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr21:17103800-17108400	Weak transcription	Pancreas	Pancrea
6	chr21:17103800-17114400	Weak transcription	Lung	lung
7	chr21:17103800-17115000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:17104000-17107200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr21:17104000-17114600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:17104000-17114600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr21:17104200-17110800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:17104200-17133400	Weak transcription	Colonic Mucosa	Colon
13	chr21:17104600-17111800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr21:17104600-17113000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr21:17104600-17114600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr21:17104600-17123400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr21:17104800-17106400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:17104800-17106400	Weak transcription	Colon Smooth Muscle	Colon
19	chr21:17104800-17111400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:17104800-17115000	Weak transcription	Fetal Muscle Leg	muscle
21	chr21:17105000-17107000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr21:17105000-17107800	Weak transcription	Ovary	ovary
23	chr21:17105000-17109400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr21:17105000-17114000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:17105200-17106400	Enhancers	Fetal Brain Male	brain
26	chr21:17105400-17106400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr21:17105400-17106400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr21:17105400-17106400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr21:17105400-17106400	Weak transcription	Adipose Nuclei	Adipose
30	chr21:17105400-17106400	Enhancers	Hela-S3	cervix
31	chr21:17105400-17106400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr21:17105400-17106600	Enhancers	Primary hematopoietic stem cells	blood
33	chr21:17105400-17106600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr21:17105400-17106600	Enhancers	Liver	Liver
35	chr21:17105400-17106600	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr21:17105400-17106600	Enhancers	HepG2	liver
37	chr21:17105400-17106600	Enhancers	NHEK	skin
38	chr21:17105400-17107000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr21:17105400-17107200	Weak transcription	Fetal Heart	heart
40	chr21:17105400-17107200	Weak transcription	Fetal Intestine Small	intestine
41	chr21:17105400-17107600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr21:17105400-17107600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:17105400-17107600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr21:17105400-17107600	Weak transcription	Osteobl	bone
45	chr21:17105400-17107800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr21:17105400-17107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr21:17105400-17107800	Weak transcription	Fetal Lung	lung
48	chr21:17105400-17107800	Weak transcription	Right Atrium	heart
49	chr21:17105400-17107800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr21:17105400-17107800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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