Variant report

Variant	rs1957030
Chromosome Location	chr14:32949155-32949156
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	chr14:32943721..32945692-chr14:32947594..32949862,2	MCF-7	breast:
2	chr14:32947699..32950524-chr14:32951801..32954077,2	K562	blood:

Variant related genes	Relation type
ENSG00000259045	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17412060	1.00[JPT][hapmap]
rs17412116	1.00[JPT][hapmap]
rs1951193	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951195	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951196	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957027	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957028	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957029	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58490247	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58923983	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60217119	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs60993482	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs61982968	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982981	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61982982	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61982983	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61982984	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571526	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7149658	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8014037	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014051	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8017798	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8018953	0.89[AMR][1000 genomes];0.96[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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv901595	chr14:32928634-32961434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32943200-32950800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:32945800-32950200	Enhancers	NHDF-Ad	bronchial
3	chr14:32946800-32951200	Weak transcription	Right Ventricle	heart
4	chr14:32947600-32949200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:32947600-32949400	Weak transcription	HSMM	muscle
6	chr14:32947600-32949600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:32947600-32950600	Weak transcription	Left Ventricle	heart
8	chr14:32947600-32951400	Weak transcription	Fetal Heart	heart
9	chr14:32947600-32962200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:32947800-32949200	Weak transcription	Brain Anterior Caudate	brain
11	chr14:32947800-32951000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:32947800-32960600	Weak transcription	Fetal Brain Male	brain
13	chr14:32947800-32963400	Weak transcription	Right Atrium	heart
14	chr14:32948000-32949200	Weak transcription	NHLF	lung
15	chr14:32948000-32950400	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:32948000-32951400	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:32948200-32949200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:32948200-32949200	Weak transcription	HSMMtube	muscle
19	chr14:32948200-32949200	Weak transcription	Osteobl	bone
20	chr14:32948200-32949400	Weak transcription	NHEK	skin
21	chr14:32948200-32950600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:32948200-32951000	Weak transcription	Brain Angular Gyrus	brain
23	chr14:32948200-32951000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:32948200-32951000	Weak transcription	Brain Substantia Nigra	brain
25	chr14:32948400-32949600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:32948800-32949600	Enhancers	Aorta	Aorta
27	chr14:32948800-32950200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:32948800-32950400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:32949000-32949200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:32949000-32949200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr14:32949000-32949400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr14:32949000-32949400	Enhancers	Brain Cingulate Gyrus	brain
33	chr14:32949000-32950000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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