Variant report

Variant	rs749248
Chromosome Location	chr15:57623569-57623570
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	chr15:57600919..57606103-chr15:57620754..57624822,5	K562	blood:
2	chr15:57616601..57618515-chr15:57622221..57625785,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1007048	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10459625	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11631073	0.89[ASN][1000 genomes]
rs11857206	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12906829	0.90[ASN][1000 genomes]
rs12917506	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2414501	0.81[ASN][1000 genomes]
rs4534776	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4774256	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4774933	0.96[EUR][1000 genomes]
rs61999616	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61999617	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv569579	chr15:57622600-57775806	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1045656	chr15:57622685-57748473	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv542395	chr15:57622685-57748473	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57613000-57626800	Weak transcription	Right Atrium	heart
2	chr15:57613000-57635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:57616200-57624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:57616200-57624800	Weak transcription	Lung	lung
5	chr15:57617600-57624800	Enhancers	Fetal Muscle Leg	muscle
6	chr15:57617600-57625800	Weak transcription	A549	lung
7	chr15:57618600-57632000	Weak transcription	Spleen	Spleen
8	chr15:57620600-57626200	Weak transcription	Fetal Intestine Small	intestine
9	chr15:57620800-57625800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:57621000-57624400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:57621000-57626600	Weak transcription	Fetal Lung	lung
12	chr15:57622600-57623600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:57622800-57624400	Enhancers	Hela-S3	cervix
14	chr15:57622800-57625600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:57622800-57629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:57623000-57626600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:57623200-57623600	Weak transcription	K562	blood
18	chr15:57623200-57626600	Weak transcription	HSMMtube	muscle
19	chr15:57623400-57624200	Enhancers	Fetal Muscle Trunk	muscle
20	chr15:57623400-57625600	Weak transcription	Osteobl	bone
21	chr15:57623400-57625800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr15:57623400-57625800	Weak transcription	HSMM	muscle

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