Variant report

Variant	rs34854780
Chromosome Location	chr4:3030243-3030244
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3022979..3027638-chr4:3028157..3033306,5	K562	blood:

Variant related genes	Relation type
ENSG00000125388	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11935128	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11947255	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35248769	1.00[AMR][1000 genomes]
rs35492582	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35970030	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41264719	1.00[AMR][1000 genomes]
rs41264741	1.00[AMR][1000 genomes]
rs56733257	1.00[AMR][1000 genomes]
rs57294059	1.00[AMR][1000 genomes]
rs57346236	1.00[AMR][1000 genomes]
rs57447128	1.00[AMR][1000 genomes]
rs57779369	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57812385	1.00[AMR][1000 genomes]
rs58036497	1.00[AMR][1000 genomes]
rs58202885	1.00[AMR][1000 genomes]
rs58376060	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58643792	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58782413	1.00[AMR][1000 genomes]
rs58966302	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58998372	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6813002	1.00[AMR][1000 genomes]
rs6813023	1.00[AMR][1000 genomes]
rs6826590	1.00[AMR][1000 genomes]
rs6832730	1.00[AMR][1000 genomes]
rs6845680	1.00[AMR][1000 genomes]
rs73073038	1.00[AMR][1000 genomes]
rs73073070	1.00[AMR][1000 genomes]
rs73074803	1.00[AMR][1000 genomes]
rs73074829	1.00[AMR][1000 genomes]
rs73074831	1.00[AMR][1000 genomes]
rs73084115	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086132	1.00[AMR][1000 genomes]
rs73088165	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1008436	chr4:2947160-3031195	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv536998	chr4:2947160-3031195	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1013440	chr4:2993130-3053503	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:2983600-3032000	Weak transcription	Fetal Brain Female	brain
2	chr4:3005800-3038600	Weak transcription	Right Ventricle	heart
3	chr4:3011800-3039600	Weak transcription	Right Atrium	heart
4	chr4:3016200-3033200	Weak transcription	Pancreas	Pancrea
5	chr4:3019200-3039000	Weak transcription	Left Ventricle	heart
6	chr4:3021200-3043000	Weak transcription	Brain Germinal Matrix	brain
7	chr4:3024600-3038800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:3024800-3038800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:3025200-3032800	Weak transcription	Fetal Stomach	stomach
10	chr4:3025200-3035200	Weak transcription	Brain Angular Gyrus	brain
11	chr4:3025200-3038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:3025200-3039000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:3025200-3039000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:3025200-3039000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:3025200-3043400	Weak transcription	Aorta	Aorta
16	chr4:3025400-3031200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:3025400-3033000	Weak transcription	HSMMtube	muscle
18	chr4:3025400-3039000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:3025600-3039000	Weak transcription	Fetal Lung	lung
20	chr4:3025600-3042800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:3025600-3042800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:3027800-3031200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:3028000-3038400	Weak transcription	Fetal Intestine Small	intestine
24	chr4:3029600-3033000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:3029600-3039000	Weak transcription	Brain Anterior Caudate	brain
26	chr4:3030000-3032800	Weak transcription	Fetal Muscle Leg	muscle

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