Variant report

Variant	rs61990116
Chromosome Location	chr14:68070038-68070039
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	POU2F2	chr14:68069656-68070119	GM12878	blood:	n/a	chr14:68069951-68069964
2	FOS	chr14:68069890-68070265	MCF10A-Er-Src	breast:	n/a	n/a
3	ELF1	chr14:68069695-68070109	GM12878	blood:	n/a	n/a
4	PAX5	chr14:68069669-68070051	GM12878	blood:	n/a	chr14:68069850-68069869
5	JUND	chr14:68069900-68070216	Hela-S3	cervix:	n/a	chr14:68070065-68070076
6	RUNX3	chr14:68069655-68070114	GM12878	blood:	n/a	n/a
7	PAX5	chr14:68069693-68070160	GM12878	blood:	n/a	chr14:68069850-68069869
8	FOS	chr14:68069897-68070260	MCF10A-Er-Src	breast:	n/a	n/a
9	POU2F2	chr14:68069764-68070119	GM12891	blood:	n/a	chr14:68069951-68069964
10	MAZ	chr14:68069803-68070084	GM12878	blood:	n/a	n/a
11	BCLAF1	chr14:68069595-68070124	GM12878	blood:	n/a	n/a
12	CEBPB	chr14:68069934-68070288	MCF-7	breast:	n/a	n/a
13	RUNX3	chr14:68069652-68070038	GM12878	blood:	n/a	n/a
14	CEBPB	chr14:68070028-68070146	K562	blood:	n/a	n/a
15	SP1	chr14:68069657-68070066	GM12878	blood:	n/a	n/a
16	CEBPB	chr14:68069932-68070196	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr14:68069915-68070151	A549	lung:	n/a	n/a
18	POU2F2	chr14:68069750-68070098	GM12878	blood:	n/a	chr14:68069951-68069964
19	FOSL2	chr14:68069848-68070195	HepG2	liver:	n/a	n/a
20	MYC	chr14:68069987-68070115	MCF10A-Er-Src	breast:	n/a	n/a
21	CEBPB	chr14:68069963-68070126	IMR90	lung:	n/a	n/a
22	FOS	chr14:68069903-68070272	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr14:68069891-68070260	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr14:68069913-68070112	MCF10A-Er-Src	breast:	n/a	n/a
25	PAX5	chr14:68069667-68070087	GM12878	blood:	n/a	chr14:68069850-68069869
26	CEBPB	chr14:68069937-68070398	HepG2	liver:	n/a	n/a
27	STAT3	chr14:68069913-68070107	MCF10A-Er-Src	breast:	n/a	n/a
28	JUND	chr14:68069910-68070292	HepG2	liver:	n/a	chr14:68070065-68070076
29	STAT3	chr14:68069945-68070266	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68069930..68072024-chr14:68077530..68079318,2	MCF-7	breast:
2	chr14:68068683..68070494-chr14:68139357..68141644,2	MCF-7	breast:

Variant related genes	Relation type
PIGH	TF binding region
ENSG00000100568	Chromatin interaction
ENSG00000259502	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10129995	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588931	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3742872	0.80[AMR][1000 genomes]
rs3742875	0.85[AMR][1000 genomes]
rs45474396	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4899212	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61990083	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990084	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61990086	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990087	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61990109	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61990110	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990111	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990112	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61990113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990117	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6573785	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7146307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721044	0.80[AMR][1000 genomes]
rs749270	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8010574	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8011057	0.80[AMR][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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68067400-68070200	Weak transcription	Pancreas	Pancrea
2	chr14:68067400-68070400	Enhancers	Primary B cells from cord blood	blood
3	chr14:68067400-68070800	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:68067400-68071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:68067400-68076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:68069600-68071400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:68069800-68070400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:68069800-68070400	Enhancers	HepG2	liver
9	chr14:68069800-68070600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:68069800-68070600	Enhancers	Ovary	ovary
11	chr14:68070000-68070200	Flanking Active TSS	GM12878-XiMat	blood
12	chr14:68070000-68070400	Enhancers	Esophagus	oesophagus
13	chr14:68070000-68070400	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links