Variant report

Variant	rs62374698
Chromosome Location	chr5:124709071-124709072
allele	A/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	FOSL2	chr5:124708582-124709218	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr5:124708478-124709202	PFSK-1	brain:	n/a	n/a
3	TCF12	chr5:124708467-124709356	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr5:124708342-124709359	SK-N-SH	brain:	n/a	chr5:124708958-124708968
5	POLR2A	chr5:124708638-124709154	SK-N-SH	brain:	n/a	n/a
6	MAFK	chr5:124708971-124709438	H1-hESC	embryonic stem cell:	n/a	chr5:124709147-124709162
7	EP300	chr5:124708122-124712155	SK-N-SH	brain:	n/a	chr5:124708527-124708541 chr5:124708525-124708539 chr5:124708956-124708970 chr5:124708524-124708538 chr5:124709769-124709777 chr5:124708528-124708542 chr5:124708526-124708540 chr5:124708857-124708864 chr5:124711603-124711617 chr5:124711076-124711085
8	REST	chr5:124708800-124709308	PFSK-1	brain:	n/a	n/a
9	JUND	chr5:124708740-124709161	H1-hESC	embryonic stem cell:	n/a	n/a
10	GATA3	chr5:124708410-124709323	SK-N-SH	brain:	n/a	chr5:124708958-124708968
11	YY1	chr5:124708777-124709176	SK-N-SH_RA	brain:	n/a	n/a
12	SP1	chr5:124708739-124709121	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr5:124708782-124709179	H1-hESC	embryonic stem cell:	n/a	n/a
14	PBX3	chr5:124708259-124709232	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr5:124708532-124709395	PFSK-1	brain:	n/a	n/a
16	TEAD4	chr5:124708710-124709276	SK-N-SH	brain:	n/a	n/a
17	ATF2	chr5:124708834-124709221	H1-hESC	embryonic stem cell:	n/a	n/a
18	PBX3	chr5:124708214-124709218	SK-N-SH	brain:	n/a	n/a
19	JUN	chr5:124708808-124709083	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF12	chr5:124708805-124709079	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr5:124708791-124709149	SK-N-SH_RA	brain:	n/a	n/a
22	YY1	chr5:124708751-124709127	SK-N-SH	brain:	n/a	n/a
23	JUND	chr5:124708635-124709227	SK-N-SH	brain:	n/a	n/a
24	JUND	chr5:124708519-124709254	SK-N-SH	brain:	n/a	n/a
25	EP300	chr5:124708536-124709317	SK-N-SH_RA	brain:	n/a	chr5:124708956-124708970 chr5:124708857-124708864
26	RAD21	chr5:124708769-124709132	SK-N-SH_RA	brain:	n/a	n/a
27	YY1	chr5:124708769-124709173	H1-hESC	embryonic stem cell:	n/a	n/a
28	SP1	chr5:124708763-124709219	H1-hESC	embryonic stem cell:	n/a	chr5:124709196-124709205 chr5:124709201-124709211 chr5:124709195-124709209 chr5:124709202-124709211 chr5:124709195-124709205 chr5:124709200-124709212 chr5:124709189-124709203
29	RAD21	chr5:124708753-124709250	SK-N-SH_RA	brain:	n/a	n/a
30	NFIC	chr5:124708387-124709211	SK-N-SH	brain:	n/a	n/a
31	EP300	chr5:124708504-124709319	SK-N-SH	brain:	n/a	chr5:124708527-124708541 chr5:124708525-124708539 chr5:124708956-124708970 chr5:124708524-124708538 chr5:124708528-124708542 chr5:124708526-124708540 chr5:124708857-124708864
32	TCF12	chr5:124708431-124709374	SK-N-SH	brain:	n/a	n/a
33	EP300	chr5:124708435-124709179	SK-N-SH_RA	brain:	n/a	chr5:124708527-124708541 chr5:124708525-124708539 chr5:124708956-124708970 chr5:124708524-124708538 chr5:124708528-124708542 chr5:124708526-124708540 chr5:124708857-124708864

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:124708989..124711019-chr5:124713009..124715136,2	K562	blood:

Variant related genes	Relation type
ENSG00000249677	TF binding region
ENSG00000250402	TF binding region
ENSG00000248147	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17465113	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374669	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62374670	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62374671	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62374673	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62374685	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62374686	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62374687	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62374716	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374718	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374720	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374721	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374723	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374724	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374725	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374727	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374730	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374731	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124703400-124712000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:124704200-124711800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:124704400-124711400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:124704600-124714600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:124705000-124714600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:124707000-124710000	Weak transcription	Fetal Brain Female	brain
7	chr5:124707800-124710400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:124708000-124709200	Enhancers	Dnd41	blood
9	chr5:124708000-124709400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:124708000-124710600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:124708200-124709200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:124708200-124709400	Enhancers	HSMMtube	muscle
13	chr5:124708200-124710000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:124708200-124710600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:124708200-124711000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:124708400-124709200	Enhancers	NH-A	brain
17	chr5:124708400-124709200	Enhancers	NHDF-Ad	bronchial
18	chr5:124708400-124709400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:124708400-124709400	Enhancers	Brain Substantia Nigra	brain
20	chr5:124708400-124709600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr5:124708400-124711000	Enhancers	Fetal Brain Male	brain
22	chr5:124708600-124709200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr5:124708600-124709200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:124708600-124709200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:124708600-124709200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:124708600-124709200	Enhancers	HSMM	muscle
27	chr5:124708600-124709400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr5:124708600-124709400	Enhancers	Brain Germinal Matrix	brain
29	chr5:124708600-124709400	Enhancers	Brain Hippocampus Middle	brain
30	chr5:124708600-124709400	Enhancers	Fetal Lung	lung
31	chr5:124708600-124709400	Enhancers	Fetal Muscle Leg	muscle
32	chr5:124708600-124709400	Enhancers	NHEK	skin
33	chr5:124708800-124709200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:124708800-124709200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:124708800-124709400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:124708800-124709400	Enhancers	HUVEC	blood vessel
37	chr5:124708800-124712000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:124709000-124709200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr5:124709000-124709400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:124709000-124709400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:124709000-124710000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:124709000-124711000	Weak transcription	Fetal Kidney	kidney
43	chr5:124709000-124712200	Weak transcription	H1 Cell Line	embryonic stem cell

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