Variant report

Variant	rs11176203
Chromosome Location	chr12:66860088-66860089
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: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10219463	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10219465	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10219488	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10219665	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10219742	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10506483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176197	0.85[ASN][1000 genomes]
rs11176200	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176201	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176204	0.90[YRI][hapmap]
rs11176205	0.89[YRI][hapmap]
rs11176211	0.87[ASN][1000 genomes]
rs11176212	0.87[ASN][1000 genomes]
rs11176218	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12172780	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12172786	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12172787	0.87[ASN][1000 genomes]
rs12227684	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12298258	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12817668	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12818255	0.88[EUR][1000 genomes]
rs12818551	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820901	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102543	0.87[ASN][1000 genomes]
rs2172536	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36154466	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58753311	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7132569	0.90[YRI][hapmap]
rs7132670	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133866	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134178	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134454	0.87[ASN][1000 genomes]
rs7134703	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73137547	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7314629	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7977115	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv522810	chr12:66859576-66860088	Weak transcription Enhancers	CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11176203	PPM1H	cis	cerebellum	SCAN

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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