Variant report

Variant	rs550781821
Chromosome Location	chr21:46228164-46228165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46224269..46228564-chr21:46290759..46294027,4	K562	blood:
2	chr21:46227093..46229223-chr21:46316542..46319041,2	K562	blood:
3	chr21:46227491..46230119-chr21:46302500..46304134,2	MCF-7	breast:
4	chr21:46226063..46230226-chr21:46492213..46495741,5	K562	blood:
5	chr21:46226554..46228509-chr21:46290759..46292691,2	K562	blood:
6	chr21:46227674..46230605-chr21:46271074..46273395,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv459298	chr21:46223847-46277968	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv587813	chr21:46223847-46277968	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv913963	chr21:46223847-46277968	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv965985	chr21:46225485-46228954	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46222400-46236400	Weak transcription	Small Intestine	intestine
2	chr21:46222600-46234800	Weak transcription	Right Atrium	heart
3	chr21:46222600-46236400	Weak transcription	Stomach Mucosa	stomach
4	chr21:46222600-46237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:46222800-46236400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr21:46222800-46237200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:46223000-46230800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:46223000-46230800	Strong transcription	NHEK	skin
9	chr21:46223000-46232400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:46223000-46233600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:46223000-46233600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:46223000-46234200	Strong transcription	Placenta	Placenta
13	chr21:46223000-46236400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:46223000-46236400	Strong transcription	Fetal Stomach	stomach
15	chr21:46223200-46230000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr21:46223200-46230600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr21:46223200-46234000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:46223200-46234000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr21:46223200-46234000	Strong transcription	NHLF	lung
20	chr21:46223200-46235200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr21:46223200-46235800	Strong transcription	Fetal Intestine Small	intestine
22	chr21:46223400-46230400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr21:46223400-46230800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:46223400-46231000	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr21:46223400-46231200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr21:46223400-46231200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr21:46223400-46233000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr21:46223400-46233800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr21:46223400-46233800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr21:46223400-46234000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:46223400-46234000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:46223400-46234600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr21:46223600-46229600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr21:46223600-46230800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:46223600-46231000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr21:46223600-46232400	Strong transcription	Dnd41	blood
37	chr21:46223600-46233600	Strong transcription	Osteobl	bone
38	chr21:46223600-46234200	Strong transcription	Fetal Intestine Large	intestine
39	chr21:46223600-46235000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:46223800-46230800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr21:46223800-46232600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr21:46223800-46234000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:46223800-46234200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr21:46223800-46234600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr21:46223800-46235600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr21:46224000-46229400	Strong transcription	Hela-S3	cervix
47	chr21:46224000-46230800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr21:46224000-46234400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr21:46224200-46231600	Strong transcription	K562	blood
50	chr21:46224200-46233600	Strong transcription	Primary T cells from cord blood	blood

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