Variant report

Variant	rs73903652
Chromosome Location	chr21:40284761-40284762
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40157809..40160879-chr21:40282729..40285436,3	MCF-7	breast:
2	chr21:40282678..40285377-chr21:40330917..40333289,2	MCF-7	breast:
3	chr21:40207571..40212513-chr21:40281866..40285274,6	MCF-7	breast:
4	chr21:40176264..40179706-chr21:40283548..40286904,5	MCF-7	breast:
5	chr21:40181532..40184339-chr21:40284437..40287872,3	K562	blood:
6	chr21:40282115..40285286-chr21:40361301..40363666,3	MCF-7	breast:
7	chr21:40284319..40286994-chr21:40287410..40290076,3	MCF-7	breast:
8	chr21:40268536..40271467-chr21:40282576..40285415,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16997026	1.00[EUR][1000 genomes]
rs7283207	1.00[EUR][1000 genomes]
rs73207592	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv587479	chr21:40282556-40297536	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3422109	chr21:40284482-40287680	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40273800-40284800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr21:40277800-40287000	Enhancers	Left Ventricle	heart
3	chr21:40278400-40284800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:40278600-40284800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:40278600-40285000	Enhancers	NHEK	skin
6	chr21:40278600-40285200	Enhancers	Right Ventricle	heart
7	chr21:40279400-40284800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:40279600-40285600	Weak transcription	Fetal Kidney	kidney
9	chr21:40279800-40285000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr21:40279800-40285600	Weak transcription	NHDF-Ad	bronchial
11	chr21:40280200-40286800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:40280400-40284800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:40280400-40287200	Enhancers	Esophagus	oesophagus
14	chr21:40280600-40286000	Enhancers	Lung	lung
15	chr21:40280800-40285600	Weak transcription	Aorta	Aorta
16	chr21:40281200-40284800	Enhancers	Duodenum Mucosa	Duodenum
17	chr21:40281200-40285000	Enhancers	Stomach Mucosa	stomach
18	chr21:40281400-40284800	Weak transcription	Ovary	ovary
19	chr21:40281400-40284800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr21:40281400-40286200	Weak transcription	Gastric	stomach
21	chr21:40282200-40285000	Enhancers	HMEC	breast
22	chr21:40282400-40284800	Weak transcription	HUVEC	blood vessel
23	chr21:40282600-40284800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:40282600-40284800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr21:40282600-40284800	Weak transcription	Spleen	Spleen
26	chr21:40282600-40287200	Enhancers	Psoas Muscle	Psoas
27	chr21:40282800-40284800	Weak transcription	Fetal Muscle Leg	muscle
28	chr21:40282800-40284800	Weak transcription	HSMMtube	muscle
29	chr21:40283000-40284800	Weak transcription	Fetal Heart	heart
30	chr21:40283000-40284800	Weak transcription	HSMM	muscle
31	chr21:40283000-40286600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr21:40283200-40284800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr21:40283200-40284800	Weak transcription	A549	lung
34	chr21:40283200-40285600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr21:40283400-40284800	Weak transcription	Placenta	Placenta
36	chr21:40283600-40284800	Weak transcription	Fetal Thymus	thymus
37	chr21:40283600-40284800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr21:40283800-40284800	Enhancers	Small Intestine	intestine
39	chr21:40284000-40284800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr21:40284000-40284800	Enhancers	Fetal Intestine Large	intestine
41	chr21:40284000-40284800	Enhancers	Fetal Intestine Small	intestine
42	chr21:40284000-40284800	Enhancers	Rectal Smooth Muscle	rectum
43	chr21:40284000-40285000	Enhancers	Adipose Nuclei	Adipose
44	chr21:40284000-40285400	Enhancers	HepG2	liver
45	chr21:40284000-40287200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr21:40284200-40284800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr21:40284400-40285600	Enhancers	Fetal Lung	lung
48	chr21:40284600-40284800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
49	chr21:40284600-40284800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr21:40284600-40284800	Enhancers	Colonic Mucosa	Colon

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