Variant report

Variant	rs13184921
Chromosome Location	chr5:127870642-127870643
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	chr5:127870580-127870730	HEK293	kidney:	n/a	n/a
2	KAP1	chr5:127870364-127870833	U2OS	brain:	n/a	n/a
3	FOXM1	chr5:127870232-127870970	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr5:127870141-127870955	ECC-1	luminal epithelium:	n/a	n/a
5	MYC	chr5:127870455-127870705	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr5:127870367-127870784	MCF10A-Er-Src	breast:	n/a	chr5:127870587-127870595 chr5:127870585-127870597
7	FOS	chr5:127870411-127870779	MCF10A-Er-Src	breast:	n/a	chr5:127870587-127870595 chr5:127870585-127870597
8	YY1	chr5:127870339-127870842	ECC-1	luminal epithelium:	n/a	n/a
9	STAT3	chr5:127870358-127870758	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr5:127870332-127870690	MCF10A-Er-Src	breast:	n/a	n/a
11	NFIC	chr5:127870287-127870900	ECC-1	luminal epithelium:	n/a	n/a
12	E2F4	chr5:127870200-127870773	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr5:127870560-127870710	HAc	cerebellar:	n/a	n/a
14	MAX	chr5:127870373-127870803	ECC-1	luminal epithelium:	n/a	n/a
15	TCF12	chr5:127870296-127870995	ECC-1	luminal epithelium:	n/a	n/a
16	STAT3	chr5:127870410-127870761	MCF10A-Er-Src	breast:	n/a	n/a
17	TCF12	chr5:127870311-127870946	ECC-1	luminal epithelium:	n/a	n/a
18	TEAD4	chr5:127870227-127870808	ECC-1	luminal epithelium:	n/a	n/a
19	STAT3	chr5:127870477-127870799	MCF10A-Er-Src	breast:	n/a	n/a
20	YY1	chr5:127870360-127870835	ECC-1	luminal epithelium:	n/a	n/a
21	CTCF	chr5:127870500-127870650	NHDF-neo	bronchial:	n/a	n/a
22	EP300	chr5:127870231-127870863	ECC-1	luminal epithelium:	n/a	n/a
23	CTCF	chr5:127870580-127870730	HEEpiC	esophagus:	n/a	n/a
24	FOS	chr5:127870249-127870783	MCF10A-Er-Src	breast:	n/a	chr5:127870587-127870595 chr5:127870585-127870597
25	POLR2A	chr5:127870371-127870985	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr5:127870471-127870762	MCF10A-Er-Src	breast:	n/a	n/a
27	MYC	chr5:127870378-127870779	MCF10A-Er-Src	breast:	n/a	n/a
28	CTCF	chr5:127870600-127870750	AG04449	skin:	n/a	n/a
29	CTCF	chr5:127870620-127870770	HEK293	kidney:	n/a	n/a
30	FOS	chr5:127870373-127870783	MCF10A-Er-Src	breast:	n/a	chr5:127870587-127870595 chr5:127870585-127870597

Variant related genes	Relation type
SLC27A6	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1000488	0.91[ASN][1000 genomes]
rs13155917	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13159256	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163820	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13164781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175872	0.85[ASN][1000 genomes]
rs13177608	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13177978	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13180029	0.89[ASN][1000 genomes]
rs13181926	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17677346	0.91[ASN][1000 genomes]
rs17677555	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2017775	0.91[ASN][1000 genomes]
rs34250874	0.91[ASN][1000 genomes]
rs34628042	0.91[ASN][1000 genomes]
rs34722489	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34797235	0.91[ASN][1000 genomes]
rs34952159	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836375	0.85[ASN][1000 genomes]
rs62390664	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62390668	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62390670	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62391614	0.91[ASN][1000 genomes]
rs62391642	0.91[ASN][1000 genomes]
rs62391643	0.91[ASN][1000 genomes]
rs66968874	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72785142	0.87[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	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv2763497	chr5:127745955-127882468	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1019560	chr5:127814656-127873680	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv537895	chr5:127814656-127873680	ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127840200-127872000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:127853200-127872400	Weak transcription	Osteobl	bone
3	chr5:127854000-127872000	Weak transcription	Ovary	ovary
4	chr5:127855000-127871200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:127861000-127871000	Weak transcription	A549	lung
6	chr5:127861000-127871800	Weak transcription	Fetal Lung	lung
7	chr5:127862600-127872000	Weak transcription	NHLF	lung
8	chr5:127863200-127872000	Weak transcription	HUVEC	blood vessel
9	chr5:127863600-127872000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:127864600-127871800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:127866400-127871000	Weak transcription	HMEC	breast
12	chr5:127867200-127871800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:127868400-127871800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:127868600-127871800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:127868800-127871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:127869200-127871600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:127869200-127871800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr5:127869200-127871800	Weak transcription	Right Ventricle	heart
19	chr5:127869200-127872000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:127869200-127875000	Active TSS	Fetal Heart	heart
21	chr5:127870000-127871000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:127870400-127870800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr5:127870400-127870800	Flanking Active TSS	Fetal Stomach	stomach
24	chr5:127870400-127870800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr5:127870400-127870800	Active TSS	NH-A	brain
26	chr5:127870400-127871000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:127870400-127871000	Active TSS	Fetal Kidney	kidney
28	chr5:127870400-127871200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:127870400-127871200	Enhancers	Fetal Muscle Leg	muscle
30	chr5:127870400-127871400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:127870400-127871800	Active TSS	NHDF-Ad	bronchial
32	chr5:127870400-127872200	Active TSS	Placenta	Placenta
33	chr5:127870400-127872400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:127870600-127870800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:127870600-127870800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:127870600-127870800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:127870600-127870800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:127870600-127870800	Genic enhancers	Monocytes-CD14+_RO01746	blood
39	chr5:127870600-127870800	Flanking Active TSS	NHEK	skin
40	chr5:127870600-127871000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:127870600-127871600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:127870600-127871800	Enhancers	Cortex derived primary cultured neurospheres	brain

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