Variant report

Variant	rs74060658
Chromosome Location	chr14:70429865-70429866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70425487..70427870-chr14:70428739..70430270,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11848277	1.00[EUR][1000 genomes]
rs2069109	1.00[EUR][1000 genomes]
rs28456261	1.00[EUR][1000 genomes]
rs28468655	1.00[EUR][1000 genomes]
rs56290405	1.00[EUR][1000 genomes]
rs56723492	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56837831	1.00[EUR][1000 genomes]
rs57139172	1.00[EUR][1000 genomes]
rs57292391	1.00[EUR][1000 genomes]
rs57709257	1.00[EUR][1000 genomes]
rs60048839	1.00[EUR][1000 genomes]
rs61059545	1.00[EUR][1000 genomes]
rs61226888	1.00[EUR][1000 genomes]
rs61253398	1.00[EUR][1000 genomes]
rs6573926	1.00[EUR][1000 genomes]
rs7148591	1.00[EUR][1000 genomes]
rs7150074	1.00[EUR][1000 genomes]
rs74060659	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060660	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060661	1.00[EUR][1000 genomes]
rs74060662	1.00[EUR][1000 genomes]
rs74060663	1.00[EUR][1000 genomes]
rs74060677	1.00[EUR][1000 genomes]
rs74060680	1.00[EUR][1000 genomes]
rs74061016	1.00[EUR][1000 genomes]
rs74061017	1.00[EUR][1000 genomes]
rs8022592	1.00[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 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	chr14:70414800-70437400	Strong transcription	Hela-S3	cervix
2	chr14:70415400-70434400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70415800-70444600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:70418800-70448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:70421400-70430200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:70422000-70433800	Weak transcription	HepG2	liver
7	chr14:70423000-70434600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:70423400-70430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70423800-70433000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:70424000-70430400	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:70425800-70439000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:70427000-70435000	Weak transcription	Fetal Brain Female	brain
13	chr14:70427200-70431400	Weak transcription	Liver	Liver
14	chr14:70428600-70430000	Weak transcription	Brain Germinal Matrix	brain
15	chr14:70429200-70435400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70429800-70430000	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr14:70429800-70430400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:70429800-70430400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:70429800-70430400	Enhancers	Brain Substantia Nigra	brain
20	chr14:70429800-70430600	Enhancers	Brain Angular Gyrus	brain
21	chr14:70429800-70430600	Enhancers	Fetal Brain Male	brain
22	chr14:70429800-70430800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:70429800-70430800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:70429800-70430800	Enhancers	Spleen	Spleen
25	chr14:70429800-70431000	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:70429800-70431000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr14:70429800-70431800	Enhancers	Brain Hippocampus Middle	brain
28	chr14:70429800-70434800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:70429800-70450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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