Variant report

Variant	rs72655515
Chromosome Location	chr4:77027863-77027864
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr4:77027598-77027998	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:77027640-77027921	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr4:77027650-77027888	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr4:77027569-77028008	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF12	chr4:77027439-77027951	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr4:77027551-77027941	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77027487..77029799-chr4:77068169..77070683,2	K562	blood:
2	chr4:76961032..76963158-chr4:77027696..77030643,2	K562	blood:

Variant related genes	Relation type
ART3	TF binding region
ENSG00000138750	Chromatin interaction
ENSG00000169248	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11942837	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13139234	0.91[AFR][1000 genomes]
rs4379080	0.98[EUR][1000 genomes]
rs4524416	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62318913	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6826514	0.97[EUR][1000 genomes]
rs6828078	0.97[EUR][1000 genomes]
rs6849653	0.97[EUR][1000 genomes]
rs72655511	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72655512	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7654988	0.90[AFR][1000 genomes]
rs7662679	0.97[EUR][1000 genomes]
rs7683914	0.97[EUR][1000 genomes]
rs7699287	0.81[EUR][1000 genomes]
rs9990550	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77017000-77034400	Weak transcription	Right Ventricle	heart
2	chr4:77024000-77032200	Weak transcription	Left Ventricle	heart
3	chr4:77026200-77028000	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:77026400-77033400	Weak transcription	HSMMtube	muscle
5	chr4:77026600-77033400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:77027000-77028400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:77027200-77033000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:77027200-77033400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:77027200-77034000	Weak transcription	Brain Anterior Caudate	brain
10	chr4:77027200-77034400	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:77027200-77035400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:77027600-77033400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:77027600-77034200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:77027600-77034400	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:77027600-77037400	Weak transcription	Brain Substantia Nigra	brain
16	chr4:77027800-77028000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:77027800-77028000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:77027800-77028000	Enhancers	Gastric	stomach
19	chr4:77027800-77028400	Enhancers	K562	blood
20	chr4:77027800-77034200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:77027800-77034200	Weak transcription	Fetal Brain Female	brain
22	chr4:77027800-77036400	Weak transcription	Brain Angular Gyrus	brain
23	chr4:77027800-77038400	Weak transcription	Fetal Brain Male	brain

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