Variant report

Variant	rs73256229
Chromosome Location	chr14:37444347-37444348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:37443180..37446784-chr14:37583565..37587987,4	MCF-7	breast:
2	chr14:37442881..37444673-chr14:37449240..37451651,2	K562	blood:
3	chr14:37437101..37441140-chr14:37443447..37445608,5	K562	blood:
4	chr14:37129523..37131229-chr14:37444230..37445740,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198807	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11156929	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11156930	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11848329	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11848565	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12232098	1.00[ASN][1000 genomes]
rs12590281	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56656995	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56918913	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59035643	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61496149	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7147037	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73254296	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73254298	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73256205	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73256211	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73256216	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73256218	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73256222	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1050254	chr14:37400173-37445157	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37440600-37445400	Enhancers	K562	blood
2	chr14:37441600-37446200	Enhancers	NHLF	lung
3	chr14:37441800-37446200	Enhancers	Stomach Mucosa	stomach
4	chr14:37442400-37444400	Enhancers	HMEC	breast
5	chr14:37442400-37446200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:37442600-37445800	Weak transcription	Aorta	Aorta
7	chr14:37442800-37444800	Weak transcription	Esophagus	oesophagus
8	chr14:37442800-37445800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:37442800-37445800	Weak transcription	Gastric	stomach
10	chr14:37442800-37445800	Enhancers	Hela-S3	cervix
11	chr14:37443000-37445000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:37443000-37445000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:37443000-37446200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr14:37443400-37451200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:37443600-37445000	Weak transcription	HSMMtube	muscle
16	chr14:37443600-37445400	Weak transcription	NHDF-Ad	bronchial
17	chr14:37443600-37445600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:37443800-37444600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:37443800-37445000	Enhancers	A549	lung
20	chr14:37443800-37445400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:37443800-37445400	Weak transcription	HSMM	muscle
22	chr14:37443800-37445600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:37443800-37445800	Weak transcription	Osteobl	bone
24	chr14:37444000-37445400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:37444200-37445000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:37444200-37445200	Weak transcription	NHEK	skin

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