Variant report

Variant	rs73903619
Chromosome Location	chr21:40203863-40203864
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 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	chr21:40196402..40198026-chr21:40202193..40204500,2	K562	blood:
4	chr21:40203275..40206794-chr21:40210041..40212530,5	MCF-7	breast:
5	chr21:40202141..40208683-chr21:40214749..40222143,9	K562	blood:
6	chr21:40189822..40191337-chr21:40202443..40204626,2	MCF-7	breast:
7	chr21:40180454..40185296-chr21:40201634..40204434,7	K562	blood:
8	chr21:40202074..40204721-chr21:40221926..40224763,2	MCF-7	breast:
9	chr21:40175294..40179502-chr21:40201748..40206259,10	K562	blood:
10	chr21:40175199..40185296-chr21:40201950..40208355,14	K562	blood:
11	chr21:40194153..40196064-chr21:40203698..40205702,2	K562	blood:
12	chr21:40203433..40205843-chr21:40286942..40289085,2	MCF-7	breast:
13	chr21:40203421..40205161-chr21:40207870..40210107,2	MCF-7	breast:
14	chr21:40196402..40199978-chr21:40201440..40206017,5	K562	blood:
15	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: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56267686	1.00[AFR][1000 genomes]
rs73903623	1.00[AFR][1000 genomes]
rs73903641	1.00[AFR][1000 genomes]
rs73903642	1.00[AFR][1000 genomes]
rs73903645	1.00[AFR][1000 genomes]
rs73903672	1.00[AFR][1000 genomes]

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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40195000-40212600	Weak transcription	Right Atrium	heart
2	chr21:40195200-40204800	Weak transcription	Aorta	Aorta
3	chr21:40195200-40213800	Weak transcription	Fetal Kidney	kidney
4	chr21:40196400-40206600	Weak transcription	Gastric	stomach
5	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
6	chr21:40196600-40205000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr21:40196600-40211000	Weak transcription	Pancreas	Pancrea
8	chr21:40197000-40211800	Weak transcription	Esophagus	oesophagus
9	chr21:40202600-40204000	Enhancers	Thymus	Thymus
10	chr21:40202600-40204200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:40202600-40204200	Enhancers	Dnd41	blood
12	chr21:40202600-40204400	Enhancers	Primary B cells from peripheral blood	blood
13	chr21:40202600-40204400	Enhancers	Primary hematopoietic stem cells	blood
14	chr21:40202600-40204800	Enhancers	Placenta	Placenta
15	chr21:40202600-40205400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr21:40202600-40205600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr21:40202600-40207600	Enhancers	HepG2	liver
18	chr21:40202800-40204000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:40202800-40204000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr21:40202800-40204000	Enhancers	Duodenum Mucosa	Duodenum
21	chr21:40202800-40204000	Enhancers	Fetal Lung	lung
22	chr21:40202800-40204000	Enhancers	Fetal Thymus	thymus
23	chr21:40202800-40204000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr21:40202800-40204000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr21:40202800-40204000	Enhancers	HSMMtube	muscle
26	chr21:40202800-40204200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:40202800-40204200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:40202800-40204200	Enhancers	Adipose Nuclei	Adipose
29	chr21:40202800-40204200	Enhancers	Colon Smooth Muscle	Colon
30	chr21:40202800-40204200	Enhancers	Fetal Intestine Small	intestine
31	chr21:40202800-40204200	Enhancers	Fetal Stomach	stomach
32	chr21:40202800-40204200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr21:40202800-40204200	Enhancers	NHDF-Ad	bronchial
34	chr21:40202800-40204200	Enhancers	NHLF	lung
35	chr21:40202800-40204400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr21:40202800-40204400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:40202800-40204400	Enhancers	Lung	lung
38	chr21:40202800-40204600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr21:40202800-40204600	Enhancers	HMEC	breast
40	chr21:40202800-40204800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr21:40202800-40204800	Enhancers	NHEK	skin
42	chr21:40202800-40205000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:40202800-40205000	Enhancers	K562	blood
44	chr21:40202800-40205200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr21:40203000-40204000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr21:40203000-40204000	Enhancers	Fetal Muscle Leg	muscle
47	chr21:40203000-40204000	Enhancers	HSMM	muscle
48	chr21:40203000-40204200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr21:40203000-40204200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr21:40203000-40204200	Enhancers	Liver	Liver

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