Variant report

Variant	rs6137948
Chromosome Location	chr20:23416845-23416846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RXRA	chr20:23416442-23416901	HepG2	liver:	n/a	chr20:23416759-23416768
2	YY1	chr20:23416529-23417047	HepG2	liver:	n/a	n/a
3	RCOR1	chr20:23416517-23417044	HepG2	liver:	n/a	n/a
4	EP300	chr20:23416401-23417438	HepG2	liver:	n/a	n/a
5	RFX5	chr20:23416741-23417019	HepG2	liver:	n/a	n/a
6	HEY1	chr20:23416598-23417117	HepG2	liver:	n/a	n/a
7	CEBPB	chr20:23416564-23416889	HepG2	liver:	n/a	n/a
8	FOXA1	chr20:23416522-23417676	HepG2	liver:	n/a	n/a
9	FOXA1	chr20:23416371-23417447	HepG2	liver:	n/a	n/a
10	FOXA2	chr20:23416517-23416985	HepG2	liver:	n/a	n/a
11	FOXA1	chr20:23416458-23417512	HepG2	liver:	n/a	n/a
12	FOXA1	chr20:23416520-23417550	HepG2	liver:	n/a	n/a
13	MAFF	chr20:23416718-23416913	HepG2	liver:	n/a	n/a
14	YY1	chr20:23416489-23417160	HepG2	liver:	n/a	chr20:23417050-23417059
15	NFIC	chr20:23416466-23417156	HepG2	liver:	n/a	n/a
16	MAX	chr20:23416652-23416981	HepG2	liver:	n/a	n/a
17	FOXA2	chr20:23416597-23417111	A549	lung:	n/a	n/a
18	CHD2	chr20:23416624-23416920	HepG2	liver:	n/a	n/a
19	NFIC	chr20:23416405-23417091	HepG2	liver:	n/a	n/a
20	HEY1	chr20:23416612-23417071	HepG2	liver:	n/a	n/a
21	POLR2A	chr20:23416761-23417005	HepG2	liver:	n/a	n/a
22	TBP	chr20:23416584-23417044	HepG2	liver:	n/a	n/a
23	ARID3A	chr20:23416561-23416867	HepG2	liver:	n/a	n/a
24	MAZ	chr20:23416698-23417018	HepG2	liver:	n/a	n/a
25	EP300	chr20:23416615-23417014	HepG2	liver:	n/a	n/a
26	MAFK	chr20:23416640-23416970	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23336129..23338538-chr20:23416708..23418719,2	K562	blood:
2	chr20:23415427..23417677-chr20:23422614..23424382,2	K562	blood:
3	chr20:23342185..23344395-chr20:23415797..23420151,3	K562	blood:
4	chr20:23415648..23417559-chr20:23421207..23423158,2	MCF-7	breast:

No data

Variant related genes	Relation type
CSTL1	TF binding region
ENSG00000125812	Chromatin interaction
ENSG00000232645	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1076776	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12625164	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17757228	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17757442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17830281	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1936011	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2277765	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2281428	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2281434	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2295238	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34648279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3736755	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3746733	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3746737	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3761274	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3761275	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3827085	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3827086	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55851398	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56094936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56334525	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6132599	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6132600	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6132605	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6132606	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6132609	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6132610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6132617	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137901	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6137907	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6137910	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6137913	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6137914	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6137915	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6137917	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6137919	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6137920	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6137927	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137929	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137930	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137931	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6137936	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6137937	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6137938	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137939	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137941	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6137945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6137950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6137951	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs761722	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8183135	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv912818	chr20:23406519-23567838	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv912819	chr20:23406519-23569400	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1065390	chr20:23412890-23569238	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1065719	chr20:23415029-23565333	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv544214	chr20:23415029-23565333	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23415600-23417600	Flanking Active TSS	HepG2	liver
2	chr20:23415800-23417400	Enhancers	Pancreas	Pancrea
3	chr20:23415800-23417800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr20:23415800-23417800	Enhancers	Fetal Muscle Trunk	muscle
5	chr20:23416400-23417200	Enhancers	Right Ventricle	heart
6	chr20:23416400-23417400	Flanking Active TSS	Liver	Liver
7	chr20:23416400-23417600	Enhancers	Brain Angular Gyrus	brain
8	chr20:23416400-23417600	Enhancers	Fetal Brain Male	brain
9	chr20:23416400-23417600	Enhancers	Fetal Brain Female	brain
10	chr20:23416400-23417800	Enhancers	Fetal Intestine Small	intestine
11	chr20:23416400-23417800	Enhancers	Stomach Mucosa	stomach
12	chr20:23416600-23417000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr20:23416600-23417200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:23416600-23417200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr20:23416600-23417200	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr20:23416600-23417200	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr20:23416600-23417200	Enhancers	Placenta	Placenta
18	chr20:23416600-23417200	Enhancers	Fetal Stomach	stomach
19	chr20:23416600-23417200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr20:23416600-23417400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr20:23416600-23417400	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr20:23416600-23417400	Enhancers	Fetal Lung	lung
23	chr20:23416600-23417600	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr20:23416600-23417600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr20:23416600-23417600	Enhancers	Fetal Muscle Leg	muscle
26	chr20:23416600-23417600	Enhancers	Left Ventricle	heart
27	chr20:23416600-23417800	Enhancers	Right Atrium	heart
28	chr20:23416800-23417000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr20:23416800-23417000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr20:23416800-23417000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr20:23416800-23417200	Enhancers	Gastric	stomach
32	chr20:23416800-23417200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr20:23416800-23417600	Enhancers	Colonic Mucosa	Colon
34	chr20:23416800-23417600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr20:23416800-23417800	Enhancers	Fetal Intestine Large	intestine
36	chr20:23416800-23417800	Enhancers	Ovary	ovary

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