Variant report

Variant	rs2243451
Chromosome Location	chr15:57620187-57620188
allele	C/G
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	MAFK	chr15:57620038-57620656	IMR90	lung:	n/a	chr15:57620232-57620247 chr15:57620369-57620378 chr15:57620368-57620378 chr15:57620233-57620244
2	MAFK	chr15:57620076-57620412	HepG2	liver:	n/a	chr15:57620232-57620247 chr15:57620369-57620378 chr15:57620368-57620378 chr15:57620233-57620244
3	TEAD4	chr15:57620172-57621131	K562	blood:	n/a	n/a
4	PBX3	chr15:57619883-57621128	SK-N-SH	brain:	n/a	chr15:57620240-57620249 chr15:57620836-57620845
5	POLR2A	chr15:57619998-57620966	IMR90	lung:	n/a	n/a
6	RXRA	chr15:57619969-57620793	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr15:57619876-57621249	SK-N-SH	brain:	n/a	n/a
8	TAF1	chr15:57620141-57620804	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr15:57619955-57620740	SK-N-SH	brain:	n/a	n/a
10	SIN3AK20	chr15:57620131-57620826	SK-N-SH	brain:	n/a	n/a
11	EP300	chr15:57619965-57621212	SK-N-SH	brain:	n/a	n/a
12	RXRA	chr15:57620061-57620830	SK-N-SH	brain:	n/a	n/a
13	NFIC	chr15:57620073-57620765	SK-N-SH	brain:	n/a	n/a
14	TCF12	chr15:57619953-57620938	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr15:57619854-57621201	SK-N-SH	brain:	n/a	chr15:57619860-57619870 chr15:57620366-57620375 chr15:57619862-57619872 chr15:57619856-57619877 chr15:57619863-57619870
16	MEF2A	chr15:57620011-57620846	SK-N-SH	brain:	n/a	chr15:57620775-57620790
17	JUND	chr15:57620000-57621106	SK-N-SH	brain:	n/a	chr15:57620238-57620247
18	JUND	chr15:57619952-57620878	SK-N-SH	brain:	n/a	chr15:57620238-57620247
19	POLR2A	chr15:57620040-57620894	U87	brain:	n/a	n/a
20	FOSL2	chr15:57620039-57620814	SK-N-SH	brain:	n/a	chr15:57620238-57620247
21	MAFK	chr15:57620134-57620433	HepG2	liver:	n/a	chr15:57620232-57620247 chr15:57620369-57620378 chr15:57620368-57620378 chr15:57620233-57620244
22	EP300	chr15:57619889-57620914	SK-N-SH	brain:	n/a	n/a
23	TEAD4	chr15:57620005-57620854	SK-N-SH	brain:	n/a	n/a
24	RCOR1	chr15:57619488-57621205	K562	blood:	n/a	n/a
25	GATA3	chr15:57619138-57621233	SK-N-SH	brain:	n/a	chr15:57619860-57619870 chr15:57620366-57620375 chr15:57619862-57619872 chr15:57619856-57619877 chr15:57619863-57619870
26	EP300	chr15:57620108-57620616	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr15:57619886-57621011	SK-N-SH	brain:	n/a	n/a
28	NFIC	chr15:57619887-57620936	SK-N-SH	brain:	n/a	n/a
29	EP300	chr15:57620142-57620711	SK-N-SH_RA	brain:	n/a	n/a
30	CUX1	chr15:57619998-57621043	K562	blood:	n/a	n/a
31	MAFK	chr15:57620111-57621009	K562	blood:	n/a	chr15:57620232-57620247 chr15:57620369-57620378 chr15:57620368-57620378 chr15:57620233-57620244
32	CEBPB	chr15:57620187-57620738	IMR90	lung:	n/a	chr15:57620580-57620592
33	MAFF	chr15:57619853-57620427	K562	blood:	n/a	n/a
34	MAX	chr15:57620122-57620756	SK-N-SH	brain:	n/a	n/a
35	FOSL2	chr15:57619985-57620966	SK-N-SH	brain:	n/a	chr15:57620238-57620247
36	TEAD4	chr15:57620017-57620852	SK-N-SH	brain:	n/a	n/a
37	PBX3	chr15:57619849-57621138	SK-N-SH	brain:	n/a	chr15:57620240-57620249 chr15:57620836-57620845
38	MAFF	chr15:57620101-57620401	HepG2	liver:	n/a	n/a
39	UBTF	chr15:57620101-57620297	K562	blood:	n/a	n/a
40	JUND	chr15:57619938-57620887	SK-N-SH	brain:	n/a	chr15:57620238-57620247
41	POLR2A	chr15:57620040-57620888	U87	brain:	n/a	n/a
42	MAX	chr15:57620133-57620772	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr15:57620110-57620757	U87	brain:	n/a	n/a
44	EP300	chr15:57619842-57621094	K562	blood:	n/a	chr15:57619853-57619867

Variant related genes	Relation type
ENSG00000260870	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11629673	1.00[JPT][hapmap]
rs17819964	1.00[JPT][hapmap]
rs2244509	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	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247485	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247499	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247501	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[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	0.88[AMR][1000 genomes];0.90[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57611400-57620600	Enhancers	Fetal Intestine Small	intestine
2	chr15:57613000-57626800	Weak transcription	Right Atrium	heart
3	chr15:57613000-57635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:57614600-57621800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr15:57616200-57622200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:57616200-57624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:57616200-57624800	Weak transcription	Lung	lung
8	chr15:57616400-57620400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:57616400-57620400	Weak transcription	Placenta	Placenta
10	chr15:57616800-57621400	Enhancers	Fetal Intestine Large	intestine
11	chr15:57617200-57620200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr15:57617200-57622400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:57617200-57622400	Weak transcription	Hela-S3	cervix
14	chr15:57617600-57624800	Enhancers	Fetal Muscle Leg	muscle
15	chr15:57617600-57625800	Weak transcription	A549	lung
16	chr15:57617800-57622200	Weak transcription	Fetal Thymus	thymus
17	chr15:57618600-57632000	Weak transcription	Spleen	Spleen
18	chr15:57619000-57623400	Enhancers	HSMM	muscle
19	chr15:57619200-57621200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:57619200-57621200	Enhancers	NHLF	lung
21	chr15:57619400-57621000	Enhancers	Fetal Lung	lung
22	chr15:57619400-57621000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr15:57619400-57621000	Flanking Active TSS	HSMMtube	muscle
24	chr15:57619400-57621000	Enhancers	NHDF-Ad	bronchial
25	chr15:57619600-57620600	Weak transcription	Psoas Muscle	Psoas
26	chr15:57619600-57620800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr15:57619800-57620200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:57619800-57620200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:57619800-57620200	Flanking Active TSS	NH-A	brain
30	chr15:57619800-57620200	Flanking Active TSS	Osteobl	bone
31	chr15:57619800-57620400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr15:57619800-57620800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr15:57620000-57620200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:57620000-57620200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:57620000-57620800	Flanking Active TSS	K562	blood
36	chr15:57620000-57621000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:57620000-57621200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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