Variant report

Variant	rs61953552
Chromosome Location	chr12:124021927-124021928
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124021914-124021964	ECC-1	luminal epithelium:	n/a
2	chr12:124021914-124021964	PANC-1	pancreas:	n/a
3	chr12:124021914-124021964	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:124021914-124021964	GM06990	blood:	n/a
5	chr12:124021914-124021964	SK-N-SH	brain:	n/a
6	chr12:124021914-124021964	HMEC	breast:	n/a
7	chr12:124021914-124021964	HRCEpiC	kidney:	n/a
8	chr12:124021914-124021964	BJ	skin:	n/a
9	chr12:124021914-124021964	HRPEpiC	eye:	n/a
10	chr12:124021914-124021964	HEK293	kidney:	embryo
11	chr12:124021914-124021964	HNPCEpiC	eye:	n/a
12	chr12:124021914-124021964	SK-N-MC	brain:	n/a
13	chr12:124021914-124021964	BE2_C	brain:	n/a
14	chr12:124021914-124021964	MCF-7	breast:	n/a
15	chr12:124021914-124021964	NB4	blood:	n/a
16	chr12:124021914-124021964	NT2-D1	testis:	n/a
17	chr12:124021914-124021964	HL-60	blood:	n/a
18	chr12:124021914-124021964	SAEC	small airway:	n/a
19	chr12:124021914-124021964	AG10803	skin:	n/a
20	chr12:124021914-124021964	HRE	kidney:	n/a
21	chr12:124021914-124021964	AG09309	skin:	n/a
22	chr12:124021914-124021964	CMK	blood:	n/a
23	chr12:124021914-124021964	ProgFib	skin:	n/a
24	chr12:124021914-124021964	SK-N-SH_RA	brain:	n/a
25	chr12:124021914-124021964	LNCaP	prostate:	n/a
26	chr12:124021914-124021964	HCPEpiC	choroid plexus:	n/a
27	chr12:124021914-124021964	GM12878	blood:	n/a
28	chr12:124021914-124021964	HepG2	liver:	n/a
29	chr12:124021914-124021964	GM12892	blood:	n/a
30	chr12:124021914-124021964	HCT-116	colon:	n/a
31	chr12:124021914-124021964	GM19239	blood:	n/a
32	chr12:124021914-124021964	Jurkat	blood:	n/a
33	chr12:124021914-124021964	U87	brain:	n/a
34	chr12:124021914-124021964	T-47D	breast:	n/a
35	chr12:124021914-124021964	ovcar-3	ovarian:	n/a
36	chr12:124021914-124021964	SKMC	muscle:	n/a
37	chr12:124021914-124021964	H1-hESC	embryonic stem cell:	embryo
38	chr12:124021914-124021964	A549	lung:	n/a
39	chr12:124021914-124021964	AG04449	skin:	fetal
40	chr12:124021914-124021964	NH-A	brain:	n/a
41	chr12:124021914-124021964	HAEpiC	amniotic membrane:	n/a
42	chr12:124021914-124021964	AoSMC	blood vessel:	n/a
43	chr12:124021914-124021964	Hela-S3	cervix:	n/a
44	chr12:124021914-124021964	HCF	heart:	n/a
45	chr12:124021914-124021964	PFSK-1	brain:	n/a
46	chr12:124021914-124021964	HEEpiC	esophagus:	n/a
47	chr12:124021914-124021964	AG09319	gingival:	n/a
48	chr12:124021914-124021964	HUVEC	blood vessel:	n/a
49	chr12:124021914-124021964	NHDF-neo	bronchial:	n/a
50	chr12:124021914-124021964	MCF10A-Er-Src	breast:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124015786..124020200-chr12:124020787..124024805,6	K562	blood:
2	chr12:124014613..124020427-chr12:124021757..124030921,10	MCF-7	breast:

No data

Variant related genes	Relation type
RILPL1	CpG island
ENSG00000188026	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10846526	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846528	0.81[ASN][1000 genomes]
rs11057297	0.82[ASN][1000 genomes]
rs28403439	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28408980	0.87[ASN][1000 genomes]
rs28454032	0.95[ASN][1000 genomes]
rs28465339	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28498381	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28535724	0.85[ASN][1000 genomes]
rs28539789	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654896	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28673982	0.85[ASN][1000 genomes]
rs28711456	0.86[ASN][1000 genomes]
rs28758342	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28834793	0.81[ASN][1000 genomes]
rs4930716	0.86[ASN][1000 genomes]
rs5027860	0.95[ASN][1000 genomes]
rs61953537	0.89[AMR][1000 genomes]
rs61953539	0.85[ASN][1000 genomes]
rs61953543	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61953557	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307227	0.95[ASN][1000 genomes]
rs7313179	0.84[ASN][1000 genomes]
rs7315326	0.83[ASN][1000 genomes]
rs7959727	0.83[ASN][1000 genomes]
rs7965334	0.95[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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	esv2422416	chr12:124009676-124085689	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124019400-124023600	Weak transcription	HepG2	liver
2	chr12:124019400-124023800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:124019400-124028200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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