Variant report

Variant	rs73220272
Chromosome Location	chr12:121614227-121614228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121613752..121616874-chr12:121617390..121620030,3	K562	blood:
2	chr12:121613447..121614367-chr12:121622707..121623538,6	MCF-7	breast:
3	chr12:121569648..121570492-chr12:121613509..121614358,5	MCF-7	breast:
4	chr12:121612772..121615002-chr12:121621675..121623747,2	K562	blood:
5	chr12:121613736..121614367-chr12:121622765..121623526,4	MCF-7	breast:
6	chr12:121613534..121614299-chr12:121664938..121665536,2	MCF-7	breast:
7	chr12:121612601..121615211-chr12:121633232..121635825,2	MCF-7	breast:
8	chr12:121613587..121614418-chr12:121640538..121641398,7	MCF-7	breast:
9	chr12:121613491..121614418-chr12:121640538..121641644,9	MCF-7	breast:
10	chr12:119608953..119609635-chr12:121613462..121614267,2	MCF-7	breast:

No data

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12301635	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304035	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321707	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815078	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821688	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718161	0.97[ASN][1000 genomes]
rs2051550	0.82[ASN][1000 genomes]
rs2051551	0.82[ASN][1000 genomes]
rs2686371	0.93[ASN][1000 genomes]
rs2857587	0.82[ASN][1000 genomes]
rs2857588	0.88[ASN][1000 genomes]
rs2857589	0.93[ASN][1000 genomes]
rs34405253	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34481602	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66850672	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137837	0.97[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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
2	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:121583800-121623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:121584600-121626600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:121586200-121623600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:121594200-121627600	Weak transcription	Right Ventricle	heart
8	chr12:121596000-121614800	Weak transcription	Gastric	stomach
9	chr12:121596200-121622200	Weak transcription	Esophagus	oesophagus
10	chr12:121596200-121625600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:121596200-121629000	Weak transcription	Left Ventricle	heart
12	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:121597800-121625600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:121599000-121617200	Weak transcription	Fetal Stomach	stomach
15	chr12:121602400-121634600	Weak transcription	Fetal Thymus	thymus
16	chr12:121603800-121623600	Weak transcription	Fetal Intestine Small	intestine
17	chr12:121604000-121615800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:121604200-121614600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:121604200-121619800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:121604400-121614800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:121604400-121622200	Weak transcription	Lung	lung
22	chr12:121605000-121623400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:121605400-121615000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:121606200-121614600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:121606600-121614600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:121610400-121614400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:121610600-121614600	Weak transcription	HUVEC	blood vessel
28	chr12:121610800-121628800	Weak transcription	Right Atrium	heart
29	chr12:121611800-121614400	Weak transcription	Liver	Liver
30	chr12:121611800-121614600	Weak transcription	Spleen	Spleen
31	chr12:121612200-121617200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:121612400-121615400	Strong transcription	Primary T cells from cord blood	blood
33	chr12:121612400-121615400	Genic enhancers	Brain Inferior Temporal Lobe	brain
34	chr12:121612600-121615400	Genic enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:121612600-121617200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:121612600-121630200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:121613000-121615000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:121613200-121615400	Strong transcription	Brain Substantia Nigra	brain
39	chr12:121613200-121615400	Enhancers	K562	blood
40	chr12:121613400-121614800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:121613400-121619000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:121613600-121614800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:121613600-121614800	Enhancers	Placenta	Placenta
44	chr12:121613600-121615000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:121613600-121615600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:121613600-121617000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr12:121613800-121615400	Strong transcription	Brain Anterior Caudate	brain
48	chr12:121613800-121622000	Weak transcription	Fetal Brain Male	brain
49	chr12:121614000-121615000	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:121614000-121615200	Genic enhancers	Monocytes-CD14+_RO01746	blood

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