Variant report

Variant	rs73220279
Chromosome Location	chr12:121624309-121624310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11065484	1.00[ASN][1000 genomes]
rs11541850	1.00[ASN][1000 genomes]
rs12321716	1.00[ASN][1000 genomes]
rs17526121	1.00[ASN][1000 genomes]
rs1963773	1.00[ASN][1000 genomes]
rs28360466	1.00[ASN][1000 genomes]
rs56036638	1.00[ASN][1000 genomes]
rs56067598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56297690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73220266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73220283	1.00[ASN][1000 genomes]
rs9737637	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:49 , 50 per page) page: 1

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	chr12:121584600-121626600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:121594200-121627600	Weak transcription	Right Ventricle	heart
5	chr12:121596200-121625600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:121596200-121629000	Weak transcription	Left Ventricle	heart
7	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:121597800-121625600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:121602400-121634600	Weak transcription	Fetal Thymus	thymus
10	chr12:121610800-121628800	Weak transcription	Right Atrium	heart
11	chr12:121612600-121630200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:121614000-121634600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:121614200-121628800	Weak transcription	Adipose Nuclei	Adipose
14	chr12:121615800-121625400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:121619200-121627400	Weak transcription	NHLF	lung
16	chr12:121620200-121626400	Strong transcription	Brain Angular Gyrus	brain
17	chr12:121620400-121624600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:121620400-121634200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:121621400-121624400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:121621600-121625600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:121622000-121624800	Strong transcription	Brain Substantia Nigra	brain
22	chr12:121622000-121625600	Strong transcription	Primary T cells from cord blood	blood
23	chr12:121622200-121624400	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:121622200-121624400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:121622600-121627400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:121622600-121627600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:121622600-121627600	Weak transcription	Pancreas	Pancrea
28	chr12:121622800-121624400	Weak transcription	Lung	lung
29	chr12:121622800-121634200	Weak transcription	Placenta	Placenta
30	chr12:121622800-121634400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:121623000-121627400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:121623000-121628200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:121623000-121628200	Weak transcription	NHEK	skin
34	chr12:121623200-121629000	Weak transcription	Spleen	Spleen
35	chr12:121623400-121624400	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr12:121623600-121627400	Weak transcription	GM12878-XiMat	blood
37	chr12:121623600-121634200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:121623600-121634200	Weak transcription	Liver	Liver
39	chr12:121623600-121634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:121624000-121628600	Weak transcription	Primary B cells from cord blood	blood
41	chr12:121624200-121624800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:121624200-121625800	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:121624200-121625800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:121624200-121626400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:121624200-121626800	Weak transcription	Ovary	ovary
46	chr12:121624200-121627200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:121624200-121627200	Weak transcription	K562	blood
48	chr12:121624200-121629600	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:121624200-121647200	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links