Variant report

Variant	rs562129394
Chromosome Location	chr21:17125167-17125168
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17123698..17126562-chr21:17142609..17145221,2	MCF-7	breast:
2	chr21:17101896..17103762-chr21:17124530..17127504,2	MCF-7	breast:
3	chr21:17104177..17106318-chr21:17123933..17125566,2	K562	blood:
4	chr21:17102350..17105296-chr21:17124464..17127138,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155313	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	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
9	esv275197	chr21:17123855-17130358	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17104200-17133400	Weak transcription	Colonic Mucosa	Colon
2	chr21:17105400-17125200	Weak transcription	Brain Substantia Nigra	brain
3	chr21:17114800-17126600	Weak transcription	Aorta	Aorta
4	chr21:17114800-17126600	Weak transcription	NH-A	brain
5	chr21:17115000-17126600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr21:17115200-17130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:17115400-17145400	Weak transcription	Fetal Thymus	thymus
8	chr21:17115600-17133400	Weak transcription	Dnd41	blood
9	chr21:17115600-17139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr21:17115800-17125600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr21:17116000-17125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr21:17116200-17139400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr21:17116400-17125400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:17116600-17125400	Weak transcription	Fetal Muscle Leg	muscle
15	chr21:17116600-17125400	Weak transcription	Fetal Stomach	stomach
16	chr21:17116600-17125400	Weak transcription	Right Ventricle	heart
17	chr21:17116600-17125400	Weak transcription	Thymus	Thymus
18	chr21:17116600-17145400	Weak transcription	Esophagus	oesophagus
19	chr21:17117400-17125400	Weak transcription	Placenta	Placenta
20	chr21:17117400-17126400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr21:17119000-17125200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr21:17121400-17125400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr21:17121400-17125600	Weak transcription	Fetal Brain Female	brain
24	chr21:17121600-17125200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr21:17121800-17125200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr21:17122200-17125200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr21:17122200-17126400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr21:17122200-17126600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr21:17122200-17126600	Weak transcription	Fetal Kidney	kidney
30	chr21:17122200-17127200	Enhancers	Psoas Muscle	Psoas
31	chr21:17122200-17129200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr21:17122400-17125400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:17122400-17125400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr21:17122400-17125400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr21:17122400-17126400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr21:17122400-17126600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr21:17122400-17126600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr21:17122400-17126600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr21:17122400-17126600	Weak transcription	HSMMtube	muscle
40	chr21:17122400-17126600	Weak transcription	Osteobl	bone
41	chr21:17122400-17126800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:17122400-17126800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr21:17122600-17125200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr21:17122600-17125400	Weak transcription	Fetal Intestine Large	intestine
45	chr21:17122600-17125400	Weak transcription	Right Atrium	heart
46	chr21:17122600-17125400	Weak transcription	Stomach Mucosa	stomach
47	chr21:17122600-17125600	Weak transcription	Fetal Intestine Small	intestine
48	chr21:17122600-17126400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr21:17122600-17129000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr21:17122600-17142800	Weak transcription	Hela-S3	cervix

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