Variant report

Variant	rs3985587
Chromosome Location	chr15:73622444-73622445
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	chr15:73620319..73622578-chr15:73631546..73634347,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1023924	0.80[AMR][1000 genomes]
rs1116880	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11634084	0.95[EUR][1000 genomes]
rs11634147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12050774	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1479338	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1479339	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1479340	0.84[AMR][1000 genomes]
rs1564345	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17762516	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17762600	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17829830	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17829836	0.84[AMR][1000 genomes]
rs17829957	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1812835	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2127277	0.84[AMR][1000 genomes]
rs2415148	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2899784	0.84[AMR][1000 genomes]
rs3784801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3985588	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4545783	0.81[AMR][1000 genomes]
rs4777598	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546564	0.81[EUR][1000 genomes]
rs55646651	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55853625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55868723	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55939596	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56118677	0.86[EUR][1000 genomes]
rs56215298	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56348595	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58060856	0.84[AMR][1000 genomes]
rs59066156	0.84[AMR][1000 genomes]
rs62015460	0.84[EUR][1000 genomes]
rs62015484	0.92[EUR][1000 genomes]
rs62015499	0.93[EUR][1000 genomes]
rs62015500	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62015502	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62015504	0.95[EUR][1000 genomes]
rs62016849	0.81[AMR][1000 genomes]
rs62016851	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62016853	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62016854	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62016856	0.83[EUR][1000 genomes]
rs62016858	0.83[EUR][1000 genomes]
rs62017774	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62017776	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7169083	0.82[AMR][1000 genomes]
rs7172021	0.84[AMR][1000 genomes]
rs7172396	0.84[AMR][1000 genomes]
rs74022925	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74025262	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9806496	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv457202	chr15:73612377-73680301	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv569949	chr15:73612377-73680301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv524049	chr15:73612833-73680301	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73598200-73622800	Weak transcription	Right Atrium	heart
2	chr15:73612200-73623200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:73612400-73623000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:73615000-73622800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:73617200-73625800	Weak transcription	Fetal Intestine Small	intestine
6	chr15:73617400-73623200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:73617800-73634600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr15:73618200-73622600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:73618600-73624600	Weak transcription	Spleen	Spleen
10	chr15:73618800-73622600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:73618800-73622600	Weak transcription	Left Ventricle	heart
12	chr15:73620400-73622600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:73620400-73623000	Strong transcription	Fetal Brain Female	brain
14	chr15:73620600-73622800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:73620800-73623400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:73621200-73623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:73621200-73632600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr15:73621200-73634000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:73621800-73623600	Enhancers	Fetal Heart	heart
20	chr15:73622000-73622800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:73622000-73623200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:73622000-73634000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:73622200-73622800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:73622200-73623600	Enhancers	Fetal Muscle Leg	muscle
25	chr15:73622200-73624200	Enhancers	Fetal Muscle Trunk	muscle
26	chr15:73622200-73630000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr15:73622200-73634400	Weak transcription	Brain Germinal Matrix	brain
28	chr15:73622400-73622800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:73622400-73623600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:73622400-73623800	Enhancers	Adipose Nuclei	Adipose
31	chr15:73622400-73624800	Enhancers	Right Ventricle	heart

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