Variant report

Variant	rs12588353
Chromosome Location	chr14:35849560-35849561
allele	A/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: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12588409	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12590994	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2057341	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415289	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs34567258	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34999061	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs35969047	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs36073684	0.95[ASN][1000 genomes]
rs4304944	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4611365	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55861660	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs55917018	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs67635314	0.92[ASN][1000 genomes]
rs71409559	0.83[AFR][1000 genomes]
rs8007737	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8020658	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs973652	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[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	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	chr14:35844000-35850200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:35844000-35852800	Weak transcription	HUVEC	blood vessel
8	chr14:35844200-35849800	Weak transcription	Adipose Nuclei	Adipose
9	chr14:35845400-35852400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:35846000-35853000	Weak transcription	Lung	lung
11	chr14:35846200-35853000	Weak transcription	K562	blood
12	chr14:35846800-35852400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:35847200-35853000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:35847600-35850200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr14:35847800-35850400	Enhancers	Osteobl	bone
16	chr14:35848000-35850800	Enhancers	Placenta	Placenta
17	chr14:35848400-35850600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr14:35848400-35853000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:35848600-35849600	Weak transcription	A549	lung
20	chr14:35848600-35852600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:35848600-35852800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:35848600-35853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:35848800-35850600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:35848800-35850600	Enhancers	Fetal Intestine Large	intestine
25	chr14:35848800-35852800	Weak transcription	NHDF-Ad	bronchial
26	chr14:35848800-35853200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:35849000-35852800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:35849400-35850200	Enhancers	HepG2	liver
29	chr14:35849400-35850600	Enhancers	Fetal Intestine Small	intestine

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