Variant report

Variant	rs8029039
Chromosome Location	chr15:79100871-79100872
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	CTCF	chr15:79100798-79101213	HepG2	liver:	n/a	chr15:79101020-79101033
2	CTCF	chr15:79100828-79101178	K562	blood:	n/a	chr15:79101020-79101033
3	CTCF	chr15:79100869-79101400	SK-N-SH	brain:	n/a	chr15:79101020-79101033
4	CTCF	chr15:79100699-79101573	A549	lung:	n/a	chr15:79101020-79101033
5	RAD21	chr15:79100867-79101299	A549	lung:	n/a	n/a
6	RAD21	chr15:79100857-79101193	IMR90	lung:	n/a	n/a
7	CTCF	chr15:79100796-79101140	A549	lung:	n/a	chr15:79101020-79101033
8	CTCF	chr15:79100858-79101225	IMR90	lung:	n/a	chr15:79101020-79101033
9	RAD21	chr15:79100843-79101125	HepG2	liver:	n/a	n/a
10	RAD21	chr15:79100859-79101221	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr15:79100850-79101200	GM12878	blood:	n/a	chr15:79101020-79101033
12	CTCF	chr15:79100855-79101222	K562	blood:	n/a	chr15:79101020-79101033
13	RAD21	chr15:79100776-79101219	A549	lung:	n/a	n/a
14	RAD21	chr15:79100847-79101120	SK-N-SH_RA	brain:	n/a	n/a
15	RAD21	chr15:79100823-79101153	HepG2	liver:	n/a	n/a
16	CTCF	chr15:79100813-79101242	H1-hESC	embryonic stem cell:	n/a	chr15:79101020-79101033
17	CTCF	chr15:79100832-79101183	A549	lung:	n/a	chr15:79101020-79101033
18	RAD21	chr15:79100865-79101092	GM12878	blood:	n/a	n/a
19	CTCF	chr15:79100747-79101218	K562	blood:	n/a	chr15:79101020-79101033
20	RAD21	chr15:79100801-79101361	SK-N-SH	brain:	n/a	n/a
21	RAD21	chr15:79100847-79101202	Hela-S3	cervix:	n/a	n/a
22	ZNF143	chr15:79100869-79101198	K562	blood:	n/a	n/a
23	CTCF	chr15:79100820-79101183	K562	blood:	n/a	chr15:79101020-79101033
24	CTCF	chr15:79100799-79101174	A549	lung:	n/a	chr15:79101020-79101033
25	RAD21	chr15:79100822-79101303	ECC-1	luminal epithelium:	n/a	n/a
26	RAD21	chr15:79100830-79101221	ECC-1	luminal epithelium:	n/a	n/a
27	RAD21	chr15:79100794-79101199	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr15:79100853-79101109	A549	lung:	n/a	chr15:79101020-79101033

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:79099673..79101300-chr15:79164107..79165721,2	K562	blood:
2	chr15:79099510..79101479-chr15:79170931..79173380,2	K562	blood:

Variant related genes	Relation type
MORF4L1	TF binding region
ENSG00000185787	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10851911	0.83[EUR][1000 genomes]
rs11630027	0.97[EUR][1000 genomes]
rs12905740	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1383636	0.93[EUR][1000 genomes]
rs1564499	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1976007	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1994017	0.87[EUR][1000 genomes]
rs2046144	0.83[AMR][1000 genomes]
rs28542482	0.98[EUR][1000 genomes]
rs2904228	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35969124	0.93[ASN][1000 genomes]
rs3743057	0.94[EUR][1000 genomes]
rs3971703	0.92[EUR][1000 genomes]
rs7183621	0.94[EUR][1000 genomes]
rs8038189	0.94[EUR][1000 genomes]
rs8042170	0.96[EUR][1000 genomes]
rs922693	0.94[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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr15:79072800-79102400	Weak transcription	Fetal Kidney	kidney
2	chr15:79082800-79102200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:79083200-79102000	Weak transcription	Fetal Heart	heart
4	chr15:79083800-79102400	Weak transcription	Aorta	Aorta
5	chr15:79088800-79102600	Weak transcription	Ovary	ovary
6	chr15:79090200-79101000	Weak transcription	Fetal Lung	lung
7	chr15:79090200-79101000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:79090800-79101000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:79090800-79101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:79090800-79101400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:79090800-79102200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:79091200-79101400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:79091200-79101400	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:79091200-79101600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:79091200-79101800	Weak transcription	Right Atrium	heart
16	chr15:79091200-79102200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:79091200-79102200	Weak transcription	Osteobl	bone
18	chr15:79091400-79101400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:79091400-79102000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:79093000-79102400	Weak transcription	Right Ventricle	heart
21	chr15:79093200-79102000	Weak transcription	Fetal Stomach	stomach
22	chr15:79096600-79101000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:79096600-79101000	Weak transcription	HSMM	muscle
24	chr15:79097200-79101000	Weak transcription	Fetal Brain Female	brain
25	chr15:79097200-79101200	Weak transcription	Left Ventricle	heart
26	chr15:79097200-79101200	Weak transcription	HSMMtube	muscle
27	chr15:79097200-79101800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr15:79097200-79102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:79097400-79102400	Weak transcription	Colon Smooth Muscle	Colon
30	chr15:79098400-79101000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:79098400-79102200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:79099000-79101200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:79099000-79101200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:79099000-79101200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:79099200-79101200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr15:79099200-79101800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:79099800-79101000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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