Variant report

Variant	rs4816607
Chromosome Location	chr21:40277774-40277775
allele	C/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: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	chr21:40262001..40266024-chr21:40277742..40279411,3	K562	blood:
2	chr21:40276653..40279130-chr21:40568874..40571656,2	K562	blood:
3	chr21:40130024..40132037-chr21:40276501..40279158,2	K562	blood:
4	chr21:40221988..40225135-chr21:40277085..40280385,3	MCF-7	breast:
5	chr21:40276535..40278972-chr21:40279958..40281891,2	K562	blood:
6	chr21:40273169..40275089-chr21:40277742..40279439,2	MCF-7	breast:
7	chr21:40204941..40207294-chr21:40276421..40279215,2	K562	blood:
8	chr21:40173449..40180758-chr21:40275825..40282486,14	MCF-7	breast:
9	chr21:40277750..40280235-chr21:40298828..40301612,2	MCF-7	breast:
10	chr21:40223431..40225086-chr21:40277290..40280274,2	MCF-7	breast:
11	chr21:40268911..40271660-chr21:40277159..40278899,2	MCF-7	breast:
12	chr21:40277363..40279174-chr21:40508328..40510405,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13050863	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1475592	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1785432	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2150409	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2210265	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836723	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836725	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836726	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836742	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs455152	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs463442	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs464093	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs467788	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs468042	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs468637	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs469031	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs469043	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs469368	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4816606	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6517485	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8133009	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs992242	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40270600-40278600	Weak transcription	Liver	Liver
2	chr21:40273600-40277800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr21:40273800-40284800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr21:40275800-40277800	Weak transcription	Hela-S3	cervix
5	chr21:40276000-40277800	Weak transcription	Stomach Mucosa	stomach
6	chr21:40276000-40278600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr21:40276000-40278600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr21:40276400-40278200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr21:40276400-40278600	Weak transcription	Lung	lung
10	chr21:40276400-40278600	Weak transcription	Right Atrium	heart
11	chr21:40276400-40280400	Weak transcription	Gastric	stomach
12	chr21:40276600-40277800	Weak transcription	Esophagus	oesophagus
13	chr21:40276600-40277800	Weak transcription	Fetal Muscle Leg	muscle
14	chr21:40276600-40278000	Weak transcription	Placenta	Placenta
15	chr21:40276600-40278600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:40276600-40278600	Weak transcription	Psoas Muscle	Psoas
17	chr21:40276600-40278600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr21:40276600-40278800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:40276600-40278800	Weak transcription	Fetal Heart	heart
20	chr21:40276600-40278800	Weak transcription	Fetal Thymus	thymus
21	chr21:40276600-40279400	Weak transcription	Aorta	Aorta
22	chr21:40276800-40278600	Weak transcription	HepG2	liver
23	chr21:40276800-40278600	Weak transcription	HMEC	breast
24	chr21:40276800-40278600	Weak transcription	NHEK	skin
25	chr21:40277000-40277800	Weak transcription	Left Ventricle	heart
26	chr21:40277000-40278600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr21:40277000-40278600	Weak transcription	Right Ventricle	heart
28	chr21:40277000-40278800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:40277400-40278000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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