Variant report

Variant	rs1123349
Chromosome Location	chr21:40204862-40204863
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40175881..40179455-chr21:40201702..40207885,11	MCF-7	breast:
2	chr21:40203844..40205524-chr21:40205560..40208541,2	K562	blood:
3	chr21:40203275..40206794-chr21:40210041..40212530,5	MCF-7	breast:
4	chr21:40202141..40208683-chr21:40214749..40222143,9	K562	blood:
5	chr21:40204834..40207310-chr21:40220918..40222421,2	K562	blood:
6	chr21:40175294..40179502-chr21:40201748..40206259,10	K562	blood:
7	chr21:40175199..40185296-chr21:40201950..40208355,14	K562	blood:
8	chr21:40194153..40196064-chr21:40203698..40205702,2	K562	blood:
9	chr21:40203433..40205843-chr21:40286942..40289085,2	MCF-7	breast:
10	chr21:40203421..40205161-chr21:40207870..40210107,2	MCF-7	breast:
11	chr21:40196402..40199978-chr21:40201440..40206017,5	K562	blood:
12	chr21:40181095..40183169-chr21:40202885..40205120,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229986	Chromatin interaction
ENSG00000234035	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40195000-40212600	Weak transcription	Right Atrium	heart
2	chr21:40195200-40213800	Weak transcription	Fetal Kidney	kidney
3	chr21:40196400-40206600	Weak transcription	Gastric	stomach
4	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
5	chr21:40196600-40205000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:40196600-40211000	Weak transcription	Pancreas	Pancrea
7	chr21:40197000-40211800	Weak transcription	Esophagus	oesophagus
8	chr21:40202600-40205400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr21:40202600-40205600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr21:40202600-40207600	Enhancers	HepG2	liver
11	chr21:40202800-40205000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr21:40202800-40205000	Enhancers	K562	blood
13	chr21:40202800-40205200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr21:40203200-40210600	Weak transcription	Spleen	Spleen
15	chr21:40203800-40205000	Enhancers	Primary B cells from cord blood	blood
16	chr21:40203800-40225200	Weak transcription	Psoas Muscle	Psoas
17	chr21:40204200-40206800	Weak transcription	Fetal Stomach	stomach
18	chr21:40204200-40209600	Weak transcription	Dnd41	blood
19	chr21:40204200-40210200	Weak transcription	NHLF	lung
20	chr21:40204400-40205400	Enhancers	Hela-S3	cervix
21	chr21:40204400-40205600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr21:40204600-40205400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr21:40204600-40205400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr21:40204600-40210000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:40204600-40210000	Weak transcription	HMEC	breast
26	chr21:40204800-40209800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:40204800-40210000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:40204800-40210000	Weak transcription	NHEK	skin

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