Variant report

Variant	rs58300654
Chromosome Location	chr8:1434693-1434694
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1386309..1387811-chr8:1433835..1436467,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17063956	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17063983	0.87[ASN][1000 genomes]
rs3958402	0.87[AFR][1000 genomes]
rs56872449	1.00[EUR][1000 genomes]
rs72507640	1.00[EUR][1000 genomes]
rs72507642	1.00[EUR][1000 genomes]
rs72507649	1.00[EUR][1000 genomes]
rs72507650	1.00[EUR][1000 genomes]
rs72507651	1.00[EUR][1000 genomes]
rs72507652	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73528846	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026194	chr8:600959-1467446	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1028487	chr8:674077-1642737	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv429833	chr8:720491-1514173	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv932163	chr8:977218-1628286	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv949592	chr8:1108087-1561756	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1026673	chr8:1142469-1679673	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv609509	chr8:1301110-1589888	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1028612	chr8:1319801-1468340	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv539295	chr8:1319801-1468340	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv469881	chr8:1374637-1561949	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv427811	chr8:1400816-1676653	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1019956	chr8:1423117-1462444	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 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	chr8:1430000-1437400	Enhancers	Fetal Brain Male	brain
2	chr8:1432200-1434800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:1433400-1436000	Enhancers	Fetal Brain Female	brain
4	chr8:1433800-1435400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:1434200-1434800	Enhancers	Fetal Intestine Small	intestine
6	chr8:1434200-1435000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:1434200-1435000	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr8:1434200-1435200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:1434200-1435200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:1434200-1435200	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr8:1434200-1435400	Enhancers	Brain Angular Gyrus	brain
12	chr8:1434200-1435800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:1434400-1434800	Enhancers	Brain Hippocampus Middle	brain
14	chr8:1434400-1434800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr8:1434400-1434800	Enhancers	Rectal Smooth Muscle	rectum
16	chr8:1434400-1435000	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr8:1434400-1435000	Bivalent Enhancer	Fetal Stomach	stomach
18	chr8:1434400-1435200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr8:1434400-1435400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:1434400-1436000	Enhancers	Brain Anterior Caudate	brain
21	chr8:1434600-1434800	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr8:1434600-1434800	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr8:1434600-1435000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:1434600-1435400	Enhancers	Colon Smooth Muscle	Colon
25	chr8:1434600-1439400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:1434600-1440000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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