Variant report

Variant	rs11065473
Chromosome Location	chr12:121628709-121628710
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121628427..121630345-chr12:121646286..121648238,2	K562	blood:
2	chr12:121533067..121535799-chr12:121628437..121630049,2	K562	blood:
3	chr12:121627659..121629279-chr12:121641297..121643728,2	K562	blood:
4	chr12:121628300..121629951-chr12:121633351..121634928,2	K562	blood:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11065475	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366304	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372746	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230912	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850520	1.00[ASN][1000 genomes]
rs3886929	1.00[ASN][1000 genomes]
rs3887080	1.00[ASN][1000 genomes]
rs61953399	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61953428	1.00[ASN][1000 genomes]
rs61953429	1.00[ASN][1000 genomes]
rs7961979	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:121596200-121629000	Weak transcription	Left Ventricle	heart
4	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:121602400-121634600	Weak transcription	Fetal Thymus	thymus
6	chr12:121610800-121628800	Weak transcription	Right Atrium	heart
7	chr12:121612600-121630200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:121614000-121634600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:121614200-121628800	Weak transcription	Adipose Nuclei	Adipose
10	chr12:121620400-121634200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:121622800-121634200	Weak transcription	Placenta	Placenta
12	chr12:121622800-121634400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:121623200-121629000	Weak transcription	Spleen	Spleen
14	chr12:121623600-121634200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:121623600-121634200	Weak transcription	Liver	Liver
16	chr12:121623600-121634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:121624200-121629600	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:121624200-121647200	Weak transcription	Brain Anterior Caudate	brain
19	chr12:121624400-121629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:121624600-121631600	Enhancers	HUVEC	blood vessel
21	chr12:121624800-121630200	Weak transcription	Brain Substantia Nigra	brain
22	chr12:121625600-121634400	Weak transcription	Primary T cells from cord blood	blood
23	chr12:121625600-121647200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:121626400-121629800	Weak transcription	Brain Angular Gyrus	brain
25	chr12:121627000-121629200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:121627200-121628800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:121627200-121628800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:121627200-121628800	Enhancers	K562	blood
29	chr12:121627400-121629600	Enhancers	Osteobl	bone
30	chr12:121627400-121630400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:121627400-121630600	Enhancers	NHLF	lung
32	chr12:121627600-121629600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr12:121627800-121628800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:121627800-121630600	Enhancers	HSMM	muscle
35	chr12:121628000-121628800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:121628000-121628800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:121628000-121628800	Enhancers	GM12878-XiMat	blood
38	chr12:121628000-121630200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:121628000-121630200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:121628000-121630400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:121628000-121631400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:121628000-121647200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:121628200-121628800	Enhancers	Hela-S3	cervix
44	chr12:121628200-121629000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:121628200-121629400	Enhancers	NHEK	skin
46	chr12:121628400-121628800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:121628400-121628800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:121628400-121629000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:121628400-121629200	Enhancers	HMEC	breast
50	chr12:121628400-121629200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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