Variant report

Variant	rs12229196
Chromosome Location	chr12:66860094-66860095
allele	C/T
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:0)
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	chr12:66860050-66860100	RPTEC	kidney:	n/a
2	chr12:66860050-66860100	Caco-2	colon:	n/a
3	chr12:66860050-66860100	H1-hESC	embryonic stem cell:	embryo
4	chr12:66860050-66860100	LNCaP	prostate:	n/a
5	chr12:66860050-66860100	HepG2	liver:	n/a
6	chr12:66860050-66860100	PFSK-1	brain:	n/a
7	chr12:66860050-66860100	U87	brain:	n/a
8	chr12:66860050-66860100	Hepatocyte	liver:	n/a
9	chr12:66860050-66860100	GM12891	blood:	n/a
10	chr12:66860050-66860100	IMR90	lung:	fetal
11	chr12:66860050-66860100	AG04450	lung:	fetal
12	chr12:66860050-66860100	HIPEpiC	eye:	n/a
13	chr12:66860050-66860100	HL-60	blood:	n/a
14	chr12:66860050-66860100	AG09319	gingival:	n/a
15	chr12:66860050-66860100	CMK	blood:	n/a
16	chr12:66860050-66860100	AG04449	skin:	fetal
17	chr12:66860050-66860100	NHDF-neo	bronchial:	n/a
18	chr12:66860050-66860100	PrEC	prostate:	n/a
19	chr12:66860050-66860100	HCM	heart:	n/a
20	chr12:66860050-66860100	NH-A	brain:	n/a
21	chr12:66860050-66860100	HRCEpiC	kidney:	n/a
22	chr12:66860050-66860100	ProgFib	skin:	n/a
23	chr12:66860050-66860100	HCPEpiC	choroid plexus:	n/a
24	chr12:66860050-66860100	GM19239	blood:	n/a
25	chr12:66860050-66860100	T-47D	breast:	n/a
26	chr12:66860050-66860100	BE2_C	brain:	n/a
27	chr12:66860050-66860100	ECC-1	luminal epithelium:	n/a
28	chr12:66860050-66860100	SKMC	muscle:	n/a
29	chr12:66860050-66860100	HEK293	kidney:	embryo
30	chr12:66860050-66860100	NT2-D1	testis:	n/a
31	chr12:66860050-66860100	HAEpiC	amniotic membrane:	n/a
32	chr12:66860050-66860100	MCF10A-Er-Src	breast:	n/a
33	chr12:66860050-66860100	HEEpiC	esophagus:	n/a
34	chr12:66860050-66860100	NB4	blood:	n/a
35	chr12:66860050-66860100	A549	lung:	n/a
36	chr12:66860050-66860100	K562	blood:	n/a
37	chr12:66860050-66860100	AG09309	skin:	n/a
38	chr12:66860050-66860100	GM06990	blood:	n/a
39	chr12:66860050-66860100	SK-N-SH_RA	brain:	n/a
40	chr12:66860050-66860100	BJ	skin:	n/a
41	chr12:66860050-66860100	ovcar-3	ovarian:	n/a
42	chr12:66860050-66860100	HRPEpiC	eye:	n/a
43	chr12:66860050-66860100	MCF-7	breast:	n/a
44	chr12:66860050-66860100	GM12892	blood:	n/a
45	chr12:66860050-66860100	HCF	heart:	n/a
46	chr12:66860050-66860100	HNPCEpiC	eye:	n/a
47	chr12:66860050-66860100	HCT-116	colon:	n/a
48	chr12:66860050-66860100	GM12878	blood:	n/a
49	chr12:66860050-66860100	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:66860050-66860100	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
GRIP1	CpG island

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10082937	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10506484	0.94[ASN][1000 genomes]
rs10878437	0.86[ASN][1000 genomes]
rs11176204	0.95[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176205	0.95[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176206	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176222	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12229755	0.93[ASN][1000 genomes]
rs12423909	0.82[CEU][hapmap];0.94[JPT][hapmap]
rs12426780	0.90[ASN][1000 genomes]
rs12426810	0.90[ASN][1000 genomes]
rs12581129	0.94[ASN][1000 genomes]
rs12581225	0.93[ASN][1000 genomes]
rs12581452	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12582879	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1389326	0.89[ASN][1000 genomes]
rs36193666	0.91[ASN][1000 genomes]
rs3920021	0.90[ASN][1000 genomes]
rs4628763	0.92[ASN][1000 genomes]
rs4644699	0.91[ASN][1000 genomes]
rs4913309	0.90[ASN][1000 genomes]
rs4913501	0.89[ASN][1000 genomes]
rs4913510	0.90[ASN][1000 genomes]
rs4913511	0.90[ASN][1000 genomes]
rs4913516	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58459118	0.93[ASN][1000 genomes]
rs66718779	0.91[ASN][1000 genomes]
rs67093681	0.93[ASN][1000 genomes]
rs67385685	0.89[ASN][1000 genomes]
rs67590485	0.93[ASN][1000 genomes]
rs7132569	0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135945	0.91[ASN][1000 genomes]
rs7304369	0.91[ASN][1000 genomes]
rs7304443	0.91[ASN][1000 genomes]
rs7304485	0.89[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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1051713	chr12:66745716-66889411	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv469459	chr12:66854354-66950289	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559206	chr12:66854354-66950289	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12229196	HELB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66844000-66861600	Weak transcription	Primary T cells from cord blood	blood
2	chr12:66846800-66860200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:66849400-66866400	Weak transcription	Pancreas	Pancrea
4	chr12:66853000-66876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:66856800-66868400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:66860000-66860200	Enhancers	Esophagus	oesophagus

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