Variant report

Variant	rs10132985
Chromosome Location	chr14:63513506-63513507
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	JUND	chr14:63513366-63513547	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:63513401-63513727	HepG2	liver:	n/a	n/a
3	MAX	chr14:63511976-63513536	Hela-S3	cervix:	n/a	chr14:63512120-63512130 chr14:63512336-63512346
4	FOXA1	chr14:63513221-63513789	HepG2	liver:	n/a	n/a
5	FOXA1	chr14:63513257-63513775	HepG2	liver:	n/a	n/a
6	JUND	chr14:63513346-63513603	HepG2	liver:	n/a	n/a
7	FOXA2	chr14:63513312-63513623	HepG2	liver:	n/a	n/a
8	ZNF143	chr14:63512021-63513733	H1-hESC	embryonic stem cell:	n/a	chr14:63512386-63512404 chr14:63512861-63512871
9	CEBPB	chr14:63513420-63513608	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:63511589-63513517	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr14:63513428-63513628	Hela-S3	cervix:	n/a	n/a
12	HNF4G	chr14:63513407-63513656	HepG2	liver:	n/a	n/a
13	FOSL2	chr14:63513256-63513649	HepG2	liver:	n/a	chr14:63513444-63513455
14	JUND	chr14:63513318-63513553	HepG2	liver:	n/a	n/a
15	JUND	chr14:63513288-63513581	H1-hESC	embryonic stem cell:	n/a	n/a
16	SMARCB1	chr14:63511908-63513714	Hela-S3	cervix:	n/a	n/a
17	FOXA2	chr14:63513006-63513803	HepG2	liver:	n/a	n/a
18	TCF12	chr14:63513147-63513554	H1-hESC	embryonic stem cell:	n/a	n/a
19	FOXA1	chr14:63513297-63513715	HepG2	liver:	n/a	n/a
20	RFX5	chr14:63513487-63513533	Hela-S3	cervix:	n/a	n/a
21	ZEB1	chr14:63513232-63513691	HepG2	liver:	n/a	chr14:63513518-63513529
22	FOS	chr14:63513366-63513587	MCF10A-Er-Src	breast:	n/a	n/a
23	FOSL2	chr14:63513290-63513661	HepG2	liver:	n/a	chr14:63513444-63513455
24	STAT3	chr14:63513361-63513590	MCF10A-Er-Src	breast:	n/a	n/a
25	HNF4A	chr14:63513373-63513622	HepG2	liver:	n/a	n/a
26	CTBP2	chr14:63511687-63513778	H1-hESC	embryonic stem cell:	n/a	n/a
27	FOS	chr14:63513282-63513618	MCF10A-Er-Src	breast:	n/a	n/a
28	FOXA1	chr14:63513189-63513660	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
KCNH5	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10162413	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11158472	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3861503	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7159344	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8018618	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs941709	0.83[AMR][1000 genomes];0.82[EUR][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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63510600-63513800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr14:63511000-63513800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:63511200-63513600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:63511200-63513800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:63511400-63514200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:63511600-63514000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr14:63511800-63513600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:63512000-63513600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:63512400-63513600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:63512800-63513800	Enhancers	Pancreas	Pancrea
11	chr14:63513000-63513600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr14:63513000-63513600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr14:63513000-63514400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr14:63513200-63513600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:63513200-63514200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr14:63513400-63513600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr14:63513400-63513600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:63513400-63513600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:63513400-63513600	Bivalent Enhancer	Brain Germinal Matrix	brain
20	chr14:63513400-63513600	Bivalent Enhancer	Brain Hippocampus Middle	brain
21	chr14:63513400-63513600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:63513400-63513600	Bivalent Enhancer	Fetal Brain Female	brain
23	chr14:63513400-63513600	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr14:63513400-63513800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr14:63513400-63513800	Enhancers	Hela-S3	cervix
26	chr14:63513400-63514200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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