Variant report

Variant	rs551206749
Chromosome Location	chr21:46497354-46497355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65663723..65666241-chr21:46495274..46498090,2	K562	blood:
2	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
3	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
4	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
5	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
6	chr21:46220974..46223825-chr21:46494380..46498218,5	MCF-7	breast:
7	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
8	chr21:46492507..46498258-chr21:46706665..46711571,8	K562	blood:
9	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
10	chr21:46495879..46498410-chr21:46645680..46647627,2	K562	blood:
11	chr21:46495410..46497788-chr21:46536429..46538983,2	K562	blood:
12	chr21:46494846..46497722-chr21:46974690..46977147,2	K562	blood:
13	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
14	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
15	chr21:46495351..46497648-chr21:46516468..46519256,2	MCF-7	breast:
16	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160256	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000186866	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000261706	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000234880	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000215447	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000272825	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv3541	chr21:46496415-46536629	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46495600-46500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:46495600-46501400	Weak transcription	Gastric	stomach
3	chr21:46495800-46497400	Weak transcription	A549	lung
4	chr21:46495800-46498400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:46495800-46498800	Weak transcription	NH-A	brain
6	chr21:46495800-46501400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr21:46495800-46502600	Weak transcription	Colonic Mucosa	Colon
8	chr21:46495800-46506000	Weak transcription	Pancreas	Pancrea
9	chr21:46496200-46497400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr21:46496200-46498400	Weak transcription	Esophagus	oesophagus
11	chr21:46496200-46498800	Weak transcription	Right Ventricle	heart
12	chr21:46496200-46500000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr21:46496200-46501200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:46496200-46506600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr21:46496200-46511600	Weak transcription	Fetal Intestine Small	intestine
16	chr21:46496400-46498200	Weak transcription	Left Ventricle	heart
17	chr21:46496400-46498400	Weak transcription	Lung	lung
18	chr21:46496400-46498400	Weak transcription	Spleen	Spleen
19	chr21:46496400-46499800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr21:46496400-46501000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr21:46496400-46501000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr21:46496400-46501200	Weak transcription	Brain Anterior Caudate	brain
23	chr21:46496400-46501600	Weak transcription	Small Intestine	intestine
24	chr21:46496400-46509000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr21:46496400-46509000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr21:46496400-46511400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr21:46496400-46511400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr21:46496400-46513000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr21:46496600-46498000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr21:46496600-46498200	Weak transcription	Colon Smooth Muscle	Colon
31	chr21:46496600-46498400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr21:46496600-46498400	Weak transcription	Psoas Muscle	Psoas
33	chr21:46496600-46498400	Weak transcription	Right Atrium	heart
34	chr21:46496600-46498400	Enhancers	Dnd41	blood
35	chr21:46496600-46498600	Enhancers	Primary T cells from cord blood	blood
36	chr21:46496600-46498800	Weak transcription	Adipose Nuclei	Adipose
37	chr21:46496600-46498800	Weak transcription	NHEK	skin
38	chr21:46496600-46499600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr21:46496600-46500000	Enhancers	Primary B cells from cord blood	blood
40	chr21:46496600-46500200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr21:46496600-46500600	Weak transcription	Fetal Stomach	stomach
42	chr21:46496600-46500800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr21:46496600-46501000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr21:46496600-46501600	Weak transcription	Brain Angular Gyrus	brain
45	chr21:46496600-46511600	Weak transcription	Brain Hippocampus Middle	brain
46	chr21:46496600-46512000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr21:46496600-46516200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr21:46496800-46497800	Weak transcription	Aorta	Aorta
49	chr21:46496800-46498200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr21:46496800-46498200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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