Variant report

Variant	rs2244509
Chromosome Location	chr15:57621686-57621687
allele	C/T
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	CTCF	chr15:57621667-57622212	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57600919..57606103-chr15:57620754..57624822,5	K562	blood:

Variant related genes	Relation type
ENSG00000260870	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17819964	1.00[JPT][hapmap]
rs2243451	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247499	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247501	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248205	0.84[ASN][1000 genomes]
rs2249219	1.00[JPT][hapmap]
rs2440943	1.00[JPT][hapmap]
rs4238323	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493912	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:26 , 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	chr15:57614600-57621800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:57616200-57622200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:57616200-57624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:57616200-57624800	Weak transcription	Lung	lung
7	chr15:57617200-57622400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:57617200-57622400	Weak transcription	Hela-S3	cervix
9	chr15:57617600-57624800	Enhancers	Fetal Muscle Leg	muscle
10	chr15:57617600-57625800	Weak transcription	A549	lung
11	chr15:57617800-57622200	Weak transcription	Fetal Thymus	thymus
12	chr15:57618600-57632000	Weak transcription	Spleen	Spleen
13	chr15:57619000-57623400	Enhancers	HSMM	muscle
14	chr15:57620600-57626200	Weak transcription	Fetal Intestine Small	intestine
15	chr15:57620800-57623000	Enhancers	Fetal Muscle Trunk	muscle
16	chr15:57620800-57625800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:57621000-57622800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:57621000-57623400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr15:57621000-57624400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:57621000-57626600	Weak transcription	Fetal Lung	lung
21	chr15:57621200-57622200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:57621200-57622400	Weak transcription	NHLF	lung
23	chr15:57621400-57621800	Weak transcription	NH-A	brain
24	chr15:57621400-57622400	Weak transcription	Osteobl	bone
25	chr15:57621400-57623200	Enhancers	K562	blood
26	chr15:57621600-57622000	Weak transcription	HSMMtube	muscle

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