Variant report

Variant	rs61988271
Chromosome Location	chr14:35746750-35746751
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	FOXA1	chr14:35746457-35746919	HepG2	liver:	n/a	chr14:35746703-35746715 chr14:35746701-35746716
2	JUND	chr14:35746400-35746796	H1-hESC	embryonic stem cell:	n/a	chr14:35746510-35746521
3	FOXA2	chr14:35746517-35746914	A549	lung:	n/a	chr14:35746703-35746715
4	FOXA2	chr14:35746523-35746854	HepG2	liver:	n/a	chr14:35746703-35746715
5	FOXA1	chr14:35746419-35746925	HepG2	liver:	n/a	chr14:35746703-35746715 chr14:35746701-35746716
6	FOXA2	chr14:35746440-35746905	A549	lung:	n/a	chr14:35746703-35746715
7	FOXA1	chr14:35746417-35746954	HepG2	liver:	n/a	chr14:35746703-35746715 chr14:35746701-35746716
8	FOXA1	chr14:35746449-35746788	HepG2	liver:	n/a	chr14:35746703-35746715 chr14:35746701-35746716
9	FOXA2	chr14:35746329-35747252	HepG2	liver:	n/a	chr14:35746703-35746715
10	FOXA1	chr14:35746561-35746877	T-47D	breast:	n/a	chr14:35746703-35746715 chr14:35746701-35746716

No.	Distal block	Cell Line	Cell type
1	chr14:35742696..35750735-chr14:35870363..35874138,7	MCF-7	breast:
2	chr14:35737913..35740720-chr14:35744173..35747290,3	K562	blood:
3	chr14:35745539..35747078-chr14:35765050..35766913,2	K562	blood:

Variant related genes	Relation type
PSMA6	TF binding region
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11156878	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620737	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11623882	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11624462	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11627092	0.90[AFR][1000 genomes]
rs11627958	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11628446	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1475041	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17458312	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1963154	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4432181	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs55693281	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56380926	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61988266	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61988267	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988269	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61988276	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61989543	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs61989544	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61989545	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs61989546	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs61989547	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7153434	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7155760	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158706	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018597	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8021880	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
8	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
9	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35684600-35760800	Weak transcription	HSMM	muscle
2	chr14:35705400-35749800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:35706800-35760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:35709800-35753600	Weak transcription	Small Intestine	intestine
5	chr14:35716800-35760600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:35716800-35761000	Weak transcription	Spleen	Spleen
7	chr14:35717000-35760800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:35717600-35753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:35722000-35754000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:35722000-35760800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:35724200-35756400	Weak transcription	Left Ventricle	heart
12	chr14:35727200-35754600	Weak transcription	NHDF-Ad	bronchial
13	chr14:35727200-35756400	Weak transcription	Stomach Mucosa	stomach
14	chr14:35727200-35761000	Weak transcription	NHLF	lung
15	chr14:35727400-35754000	Weak transcription	HUVEC	blood vessel
16	chr14:35728000-35750200	Weak transcription	Ovary	ovary
17	chr14:35728400-35748400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:35728400-35754600	Weak transcription	K562	blood
19	chr14:35728400-35755000	Weak transcription	Colonic Mucosa	Colon
20	chr14:35730000-35747200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:35730000-35751000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:35730200-35760600	Weak transcription	Fetal Brain Female	brain
23	chr14:35730400-35747000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:35730400-35753400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr14:35731800-35756000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:35733400-35747200	Weak transcription	HSMMtube	muscle
27	chr14:35734400-35760600	Weak transcription	Right Ventricle	heart
28	chr14:35734400-35760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:35734600-35749400	Weak transcription	Fetal Kidney	kidney
30	chr14:35734600-35750400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:35734600-35752400	Weak transcription	NH-A	brain
32	chr14:35735600-35747400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr14:35735800-35748000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:35736000-35760800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr14:35736600-35754000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:35737400-35761000	Weak transcription	Gastric	stomach
37	chr14:35737600-35751800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:35738600-35750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:35738800-35759400	Weak transcription	Placenta	Placenta
40	chr14:35740000-35753600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:35740000-35754800	Weak transcription	Adipose Nuclei	Adipose
42	chr14:35740000-35756600	Weak transcription	NHEK	skin
43	chr14:35740800-35747200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:35741000-35751600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:35741200-35760800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:35741400-35747200	Strong transcription	Primary B cells from cord blood	blood
47	chr14:35742600-35748600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:35742800-35755800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:35743200-35756400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr14:35743400-35750000	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links