Variant report

Variant	rs11065186
Chromosome Location	chr12:121086442-121086443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:121086420-121086570	RPTEC	kidney:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121085752..121087777-chr12:121138546..121140930,2	MCF-7	breast:
2	chr12:121084960..121086596-chr12:121087744..121089271,2	K562	blood:
3	chr12:121084859..121087400-chr12:121088955..121093657,4	MCF-7	breast:
4	chr12:121085923..121088804-chr12:121121977..121126483,5	MCF-7	breast:
5	chr12:120762972..120763850-chr12:121086347..121087643,3	K562	blood:
6	chr12:121085668..121087390-chr12:121148054..121149834,2	MCF-7	breast:
7	chr12:121085946..121088715-chr12:121122622..121126229,3	K562	blood:
8	chr12:121079111..121082636-chr12:121084242..121087390,3	K562	blood:

No data

Variant related genes	Relation type
CABP1	TF binding region
ENSG00000157782	Chromatin interaction
ENSG00000175970	Chromatin interaction
ENSG00000256008	Chromatin interaction
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10431372	0.86[EUR][1000 genomes]
rs10431383	0.86[EUR][1000 genomes]
rs10774564	0.96[ASN][1000 genomes]
rs10774565	0.82[ASN][1000 genomes]
rs10849774	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849775	0.95[ASN][1000 genomes]
rs10849780	0.86[EUR][1000 genomes]
rs10849781	0.86[EUR][1000 genomes]
rs11065183	0.91[ASN][1000 genomes]
rs11065184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065189	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065191	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065192	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065193	0.82[ASN][1000 genomes]
rs11065194	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065195	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11065196	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065197	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065198	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065199	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065204	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065205	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065214	0.86[EUR][1000 genomes]
rs11065215	0.86[EUR][1000 genomes]
rs11065217	0.86[EUR][1000 genomes]
rs11065220	0.86[EUR][1000 genomes]
rs11065221	0.86[EUR][1000 genomes]
rs11065224	0.86[EUR][1000 genomes]
rs11065229	0.86[EUR][1000 genomes]
rs11065234	0.86[EUR][1000 genomes]
rs11065235	0.86[EUR][1000 genomes]
rs11065244	0.86[EUR][1000 genomes]
rs12228118	0.86[EUR][1000 genomes]
rs12228187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12229164	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12229181	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12231499	0.86[EUR][1000 genomes]
rs12310160	0.82[ASN][1000 genomes]
rs17848090	0.86[EUR][1000 genomes]
rs2071266	0.86[EUR][1000 genomes]
rs2229534	0.86[EUR][1000 genomes]
rs2239687	0.86[EUR][1000 genomes]
rs2239757	0.86[EUR][1000 genomes]
rs2239759	0.86[EUR][1000 genomes]
rs3751166	0.86[EUR][1000 genomes]
rs3809310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3809311	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7302002	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7973568	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121079600-121086800	Weak transcription	Right Atrium	heart
2	chr12:121084800-121086600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:121084800-121086600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:121085000-121086800	Weak transcription	Brain Anterior Caudate	brain
5	chr12:121085000-121086800	Weak transcription	Esophagus	oesophagus
6	chr12:121085200-121086600	Weak transcription	Primary B cells from cord blood	blood
7	chr12:121085200-121086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:121085200-121086800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:121085400-121086600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:121085800-121086800	Enhancers	GM12878-XiMat	blood
11	chr12:121086000-121086600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:121086000-121086600	Enhancers	Brain Germinal Matrix	brain
13	chr12:121086000-121086800	Enhancers	Brain Cingulate Gyrus	brain
14	chr12:121086000-121086800	Enhancers	Fetal Stomach	stomach
15	chr12:121086200-121086600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:121086200-121086600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:121086200-121086600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:121086200-121086600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:121086200-121086600	Active TSS	Stomach Smooth Muscle	stomach
20	chr12:121086200-121086800	Enhancers	Brain Angular Gyrus	brain
21	chr12:121086200-121086800	Enhancers	Colon Smooth Muscle	Colon
22	chr12:121086200-121086800	Enhancers	Fetal Lung	lung
23	chr12:121086200-121086800	Enhancers	A549	lung
24	chr12:121086400-121086600	Weak transcription	Brain Substantia Nigra	brain
25	chr12:121086400-121086800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr12:121086400-121086800	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr12:121086400-121086800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:121086400-121087000	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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