Variant report

Variant	rs140873925
Chromosome Location	chr5:58646794-58646795
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	chr5:58645161..58647091-chr5:58651070..58653977,2	K562	blood:

Variant related genes	Relation type
ENSG00000113448	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032732	chr5:58637179-58689010	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1022160	chr5:58645805-58689010	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58634400-58647800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58635200-58652600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:58641200-58648000	Enhancers	A549	lung
4	chr5:58642200-58653200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:58642600-58646800	Weak transcription	Brain Angular Gyrus	brain
6	chr5:58642600-58647000	Weak transcription	Fetal Stomach	stomach
7	chr5:58642600-58652600	Weak transcription	Fetal Brain Male	brain
8	chr5:58642600-58652600	Weak transcription	Small Intestine	intestine
9	chr5:58643200-58647000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:58643200-58647000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:58643600-58652400	Weak transcription	Fetal Kidney	kidney
12	chr5:58644200-58650400	Enhancers	Fetal Heart	heart
13	chr5:58644800-58648600	Weak transcription	Hela-S3	cervix
14	chr5:58645800-58647600	Enhancers	Colon Smooth Muscle	Colon
15	chr5:58646000-58646800	Enhancers	Right Ventricle	heart
16	chr5:58646000-58647200	Enhancers	Left Ventricle	heart
17	chr5:58646000-58647400	Enhancers	Right Atrium	heart
18	chr5:58646000-58648400	Enhancers	Brain Hippocampus Middle	brain
19	chr5:58646000-58648400	Enhancers	Psoas Muscle	Psoas
20	chr5:58646200-58654400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:58646600-58646800	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr5:58646600-58646800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr5:58646600-58647000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:58646600-58648000	Enhancers	Fetal Brain Female	brain
25	chr5:58646600-58648000	Enhancers	Fetal Muscle Leg	muscle
26	chr5:58646600-58648000	Enhancers	Ovary	ovary
27	chr5:58646600-58648600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:58646600-58649400	Enhancers	Brain Substantia Nigra	brain
29	chr5:58646600-58649400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr5:58646600-58650000	Enhancers	Fetal Lung	lung

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