Variant report

Variant	rs8020830
Chromosome Location	chr14:35849102-35849103
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35848385..35850629-chr14:35871600..35874333,2	K562	blood:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12433012	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17514338	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55990853	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs56173145	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61251127	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148066	0.83[ASN][1000 genomes]
rs7155561	0.83[ASN][1000 genomes]
rs7155714	0.83[ASN][1000 genomes]
rs8019505	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9743508	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9743511	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][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	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 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	chr14:35837400-35852400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:35839600-35852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:35841600-35853000	Weak transcription	Right Atrium	heart
4	chr14:35843200-35850000	Enhancers	Hela-S3	cervix
5	chr14:35843600-35852400	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:35844000-35849400	Weak transcription	Fetal Intestine Small	intestine
7	chr14:35844000-35850200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:35844000-35852800	Weak transcription	HUVEC	blood vessel
9	chr14:35844200-35849800	Weak transcription	Adipose Nuclei	Adipose
10	chr14:35845400-35852400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:35846000-35853000	Weak transcription	Lung	lung
12	chr14:35846200-35853000	Weak transcription	K562	blood
13	chr14:35846800-35852400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:35847200-35853000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:35847600-35850200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr14:35847800-35850400	Enhancers	Osteobl	bone
17	chr14:35848000-35850800	Enhancers	Placenta	Placenta
18	chr14:35848400-35850600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr14:35848400-35853000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:35848600-35849400	Weak transcription	HepG2	liver
21	chr14:35848600-35849600	Weak transcription	A549	lung
22	chr14:35848600-35852600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:35848600-35852800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:35848600-35853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:35848800-35850600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:35848800-35850600	Enhancers	Fetal Intestine Large	intestine
27	chr14:35848800-35852800	Weak transcription	NHDF-Ad	bronchial
28	chr14:35848800-35853200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:35849000-35852800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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