Variant report

Variant	rs57268131
Chromosome Location	chr15:35091358-35091359
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	SMC3	chr15:35091348-35092085	Hela-S3	cervix:	n/a	chr15:35091757-35091771
2	NFIC	chr15:35091211-35092010	SK-N-SH	brain:	n/a	n/a
3	TFAP2A	chr15:35091325-35092175	Hela-S3	cervix:	n/a	chr15:35091731-35091745 chr15:35091731-35091745 chr15:35091729-35091744 chr15:35091733-35091744 chr15:35091733-35091744 chr15:35091733-35091744 chr15:35091733-35091744
4	EP300	chr15:35091080-35092477	SK-N-SH	brain:	n/a	chr15:35092091-35092105
5	MAFK	chr15:35091188-35091803	Hela-S3	cervix:	n/a	n/a
6	GTF2F1	chr15:35091285-35092118	Hela-S3	cervix:	n/a	n/a
7	RFX5	chr15:35091269-35092020	Hela-S3	cervix:	n/a	n/a
8	RCOR1	chr15:35091259-35092025	Hela-S3	cervix:	n/a	n/a
9	TFAP2C	chr15:35091322-35092249	Hela-S3	cervix:	n/a	n/a
10	MAZ	chr15:35091299-35092070	Hela-S3	cervix:	n/a	n/a
11	NFIC	chr15:35091274-35091912	ECC-1	luminal epithelium:	n/a	n/a
12	NFIC	chr15:35091261-35091867	ECC-1	luminal epithelium:	n/a	n/a
13	GATA2	chr15:35091302-35092254	SH-SY5Y	brain:	n/a	chr15:35091920-35091929
14	NFIC	chr15:35091293-35091885	SK-N-SH	brain:	n/a	n/a
15	TBL1XR1	chr15:35091275-35091449	K562	blood:	n/a	n/a

Variant related genes	Relation type
ACTC1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11852345	1.00[EUR][1000 genomes]
rs12164908	1.00[EUR][1000 genomes]
rs1402861	1.00[EUR][1000 genomes]
rs1402862	1.00[EUR][1000 genomes]
rs2083003	1.00[EUR][1000 genomes]
rs2339645	1.00[EUR][1000 genomes]
rs2339646	1.00[EUR][1000 genomes]
rs2879530	1.00[EUR][1000 genomes]
rs4542617	1.00[EUR][1000 genomes]
rs60517923	1.00[EUR][1000 genomes]
rs60614165	1.00[EUR][1000 genomes]
rs61041110	1.00[EUR][1000 genomes]
rs6495716	1.00[EUR][1000 genomes]
rs7165734	1.00[EUR][1000 genomes]
rs7166311	1.00[EUR][1000 genomes]
rs7181795	1.00[EUR][1000 genomes]
rs7182728	1.00[EUR][1000 genomes]
rs7183018	1.00[EUR][1000 genomes]
rs74009721	1.00[EUR][1000 genomes]
rs74009725	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv569133	chr15:34881304-35142566	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv457106	chr15:35049787-35227613	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv569153	chr15:35049787-35227613	Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35087600-35095000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:35088000-35091400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:35088200-35091400	Weak transcription	Pancreas	Pancrea
4	chr15:35088200-35091400	Weak transcription	Spleen	Spleen
5	chr15:35088400-35094000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:35088600-35091400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:35088600-35091400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:35088800-35091400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:35088800-35091600	Enhancers	Fetal Muscle Leg	muscle
10	chr15:35089400-35091400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:35089400-35091400	Weak transcription	Brain Germinal Matrix	brain
12	chr15:35089400-35091400	Weak transcription	Placenta	Placenta
13	chr15:35089400-35091600	Weak transcription	Aorta	Aorta
14	chr15:35089400-35091600	Weak transcription	Ovary	ovary
15	chr15:35089400-35091600	Weak transcription	Right Atrium	heart
16	chr15:35089600-35091400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:35089600-35091400	Enhancers	Fetal Muscle Trunk	muscle
18	chr15:35089600-35091400	Weak transcription	A549	lung
19	chr15:35090000-35091600	Weak transcription	Right Ventricle	heart
20	chr15:35090200-35091400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:35090200-35097000	Enhancers	Fetal Heart	heart
22	chr15:35091000-35091400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:35091000-35092200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:35091200-35091400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:35091200-35091600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr15:35091200-35091600	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr15:35091200-35091600	Enhancers	K562	blood
28	chr15:35091200-35091800	Bivalent Enhancer	Brain Substantia Nigra	brain
29	chr15:35091200-35092000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr15:35091200-35092000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr15:35091200-35092000	Enhancers	Psoas Muscle	Psoas
32	chr15:35091200-35092200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr15:35091200-35092200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr15:35091200-35092200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:35091200-35092200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr15:35091200-35092200	Bivalent Enhancer	Fetal Stomach	stomach
37	chr15:35091200-35092200	Flanking Active TSS	Hela-S3	cervix
38	chr15:35091200-35092200	Enhancers	NH-A	brain
39	chr15:35091200-35092400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr15:35091200-35092400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr15:35091200-35092400	Enhancers	Fetal Brain Female	brain
42	chr15:35091200-35092400	Flanking Active TSS	HSMM	muscle
43	chr15:35091200-35092400	Flanking Active TSS	HSMMtube	muscle
44	chr15:35091200-35092800	Enhancers	Fetal Lung	lung
45	chr15:35091200-35093200	Enhancers	NHDF-Ad	bronchial

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