Variant report

Variant	rs11065194
Chromosome Location	chr12:121098409-121098410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121097218..121098890-chr12:121123292..121124824,2	MCF-7	breast:
2	chr12:121095512..121100910-chr12:121122531..121126551,5	MCF-7	breast:
3	chr12:121093807..121095684-chr12:121097448..121099192,2	K562	blood:

Variant related genes	Relation type
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10431372	0.81[CHB][hapmap];1.00[EUR][1000 genomes]
rs10431383	1.00[EUR][1000 genomes]
rs10774564	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs10774565	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10849774	0.93[CHB][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10849775	0.84[ASN][1000 genomes]
rs10849780	1.00[EUR][1000 genomes]
rs10849781	0.81[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11065183	0.81[ASN][1000 genomes]
rs11065184	0.93[CHB][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065186	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065188	0.93[CHB][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065189	0.93[CHB][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065191	0.85[CHB][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065192	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065193	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065197	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065204	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065205	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065214	0.81[CHB][hapmap];0.80[JPT][hapmap];1.00[EUR][1000 genomes]
rs11065215	0.81[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes]
rs11065217	1.00[EUR][1000 genomes]
rs11065220	1.00[EUR][1000 genomes]
rs11065221	1.00[EUR][1000 genomes]
rs11065224	1.00[EUR][1000 genomes]
rs11065229	0.81[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes]
rs11065234	1.00[EUR][1000 genomes]
rs11065235	0.87[CHB][hapmap];1.00[EUR][1000 genomes]
rs11065238	0.86[EUR][1000 genomes]
rs11065240	0.87[CHB][hapmap];0.86[EUR][1000 genomes]
rs11065241	0.87[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.86[EUR][1000 genomes]
rs11065242	0.87[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[EUR][1000 genomes]
rs11065244	1.00[EUR][1000 genomes]
rs11065245	0.86[EUR][1000 genomes]
rs11065246	0.86[EUR][1000 genomes]
rs11065262	0.83[EUR][1000 genomes]
rs12228118	1.00[EUR][1000 genomes]
rs12228187	0.93[CHB][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12229164	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12229181	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12231101	0.86[EUR][1000 genomes]
rs12231499	1.00[EUR][1000 genomes]
rs12310160	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs17848090	1.00[EUR][1000 genomes]
rs2071266	1.00[EUR][1000 genomes]
rs2229534	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2239687	1.00[EUR][1000 genomes]
rs2239757	1.00[EUR][1000 genomes]
rs2239759	1.00[EUR][1000 genomes]
rs3751166	0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs3809310	0.87[CHB][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3809311	0.93[CHB][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7302002	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973568	0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3357633	chr12:121097169-121101867	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121090000-121106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:121091000-121104400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:121091000-121107000	Weak transcription	Brain Anterior Caudate	brain
4	chr12:121091200-121106600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:121091200-121106800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:121093000-121107200	Weak transcription	Right Atrium	heart
7	chr12:121093200-121107000	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:121093200-121107200	Weak transcription	Fetal Lung	lung
9	chr12:121095600-121104400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:121096200-121105800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:121096600-121100400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:121097000-121100200	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr12:121097200-121099200	Strong transcription	Fetal Stomach	stomach
14	chr12:121097200-121099800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:121097200-121107000	Weak transcription	Adipose Nuclei	Adipose
16	chr12:121097600-121100600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:121097600-121107000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:121097800-121106800	Weak transcription	Fetal Brain Female	brain
19	chr12:121098000-121100000	Strong transcription	Brain Angular Gyrus	brain
20	chr12:121098400-121099200	Strong transcription	Left Ventricle	heart

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