Variant report

Variant	rs11065229
Chromosome Location	chr12:121164490-121164491
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121164483-121164503	HepG2	liver:	n/a	n/a
2	TBL1XR1	chr12:121164391-121164554	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:121157650..121161198-chr12:121163529..121166472,5	K562	blood:
2	chr12:121018631..121020878-chr12:121162530..121164769,2	MCF-7	breast:
3	chr12:121163485..121165709-chr12:121272071..121274503,2	MCF-7	breast:
4	chr12:120932256..120933907-chr12:121163568..121165068,2	K562	blood:
5	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
6	chr12:120729060..120730758-chr12:121163308..121164812,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256569	TF binding region
ENSG00000167272	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000265455	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000157837	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000175970	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10431372	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10431383	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10774565	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs10849774	0.86[EUR][1000 genomes]
rs10849780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849781	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065184	0.86[EUR][1000 genomes]
rs11065186	0.86[EUR][1000 genomes]
rs11065188	0.86[EUR][1000 genomes]
rs11065189	0.86[EUR][1000 genomes]
rs11065191	0.86[EUR][1000 genomes]
rs11065192	0.86[EUR][1000 genomes]
rs11065193	0.86[EUR][1000 genomes]
rs11065194	0.81[CHB][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes]
rs11065195	1.00[EUR][1000 genomes]
rs11065196	1.00[EUR][1000 genomes]
rs11065197	0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs11065198	1.00[EUR][1000 genomes]
rs11065199	1.00[EUR][1000 genomes]
rs11065204	1.00[EUR][1000 genomes]
rs11065205	1.00[EUR][1000 genomes]
rs11065214	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065217	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065220	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065235	0.81[CHB][hapmap];0.83[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065238	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065240	0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065241	0.81[CHB][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11065242	0.81[CHB][hapmap];0.81[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065243	0.91[ASN][1000 genomes]
rs11065244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065245	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065246	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065262	0.83[EUR][1000 genomes]
rs12228118	1.00[EUR][1000 genomes]
rs12228187	0.86[EUR][1000 genomes]
rs12229164	1.00[EUR][1000 genomes]
rs12229181	1.00[EUR][1000 genomes]
rs12231101	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12231499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12310160	0.82[CHB][hapmap]
rs17848090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2071266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2229534	0.80[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2239687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2239757	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751166	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3809310	0.86[EUR][1000 genomes]
rs3809311	0.86[EUR][1000 genomes]
rs7302002	1.00[EUR][1000 genomes]
rs7973568	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][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	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121163000-121164600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:121163000-121164600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:121163000-121165000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr12:121163200-121164600	Active TSS	Fetal Brain Female	brain
5	chr12:121163200-121164600	Active TSS	Right Atrium	heart
6	chr12:121163400-121164600	Active TSS	Colonic Mucosa	Colon
7	chr12:121163400-121164600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr12:121163400-121164600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr12:121163400-121164800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:121163400-121165200	Active TSS	Rectal Smooth Muscle	rectum
11	chr12:121163600-121164800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:121163800-121164600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr12:121163800-121164600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr12:121163800-121164600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr12:121163800-121164600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:121163800-121164600	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr12:121163800-121164600	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr12:121164000-121164600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:121164000-121164600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr12:121164000-121164600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:121164000-121164600	Flanking Active TSS	Fetal Heart	heart
22	chr12:121164000-121164600	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr12:121164000-121164600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr12:121164000-121164600	Flanking Active TSS	A549	lung
25	chr12:121164000-121164600	Flanking Active TSS	GM12878-XiMat	blood
26	chr12:121164000-121164600	Flanking Active TSS	Hela-S3	cervix
27	chr12:121164000-121164600	Flanking Active TSS	K562	blood
28	chr12:121164000-121164800	Flanking Active TSS	Dnd41	blood
29	chr12:121164000-121165200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr12:121164000-121165600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:121164000-121177000	Weak transcription	Aorta	Aorta
32	chr12:121164200-121164600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr12:121164200-121164600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:121164200-121164600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:121164200-121164600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:121164200-121164800	Enhancers	Brain Substantia Nigra	brain
37	chr12:121164200-121164800	Enhancers	Fetal Thymus	thymus
38	chr12:121164200-121164800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr12:121164200-121164800	Flanking Active TSS	HepG2	liver
40	chr12:121164200-121165000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:121164200-121165000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:121164200-121165000	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr12:121164200-121165000	Enhancers	Spleen	Spleen
44	chr12:121164200-121165400	Flanking Active TSS	Liver	Liver
45	chr12:121164200-121167200	Weak transcription	Ovary	ovary
46	chr12:121164200-121167400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:121164200-121167400	Weak transcription	Brain Germinal Matrix	brain
48	chr12:121164200-121169800	Weak transcription	NH-A	brain
49	chr12:121164200-121170800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:121164200-121172600	Weak transcription	HSMMtube	muscle

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