Variant report

Variant	rs73411780
Chromosome Location	chr12:122204870-122204871
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122198738..122200851-chr12:122201759..122205692,4	K562	blood:
2	chr12:122204123..122206945-chr12:122208235..122211295,4	MCF-7	breast:
3	chr12:122190799..122194662-chr12:122203499..122206586,3	MCF-7	breast:
4	chr12:122202998..122205490-chr12:122248231..122250128,2	K562	blood:
5	chr12:122203162..122205076-chr12:122211295..122213283,2	K562	blood:
6	chr12:122200552..122202260-chr12:122204854..122206722,2	MCF-7	breast:
7	chr12:122202494..122205546-chr12:122209395..122213283,3	K562	blood:
8	chr12:122200457..122202383-chr12:122203191..122205371,2	K562	blood:
9	chr12:122203003..122205744-chr12:122206968..122208544,2	K562	blood:
10	chr12:122191528..122194366-chr12:122203960..122205884,2	MCF-7	breast:
11	chr12:122196712..122198441-chr12:122203009..122205125,2	MCF-7	breast:

No data

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs28656299	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3970421	0.94[EUR][1000 genomes]
rs55775605	0.94[EUR][1000 genomes]
rs56379201	0.94[EUR][1000 genomes]
rs56959328	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57318156	0.94[EUR][1000 genomes]
rs57611711	0.94[EUR][1000 genomes]
rs58274150	0.92[EUR][1000 genomes]
rs58534280	0.94[EUR][1000 genomes]
rs58986108	0.94[EUR][1000 genomes]
rs61230721	0.94[EUR][1000 genomes]
rs7294817	0.94[EUR][1000 genomes]
rs7313408	0.94[EUR][1000 genomes]
rs73411779	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73411782	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411785	0.89[EUR][1000 genomes]
rs73411786	0.94[EUR][1000 genomes]
rs7957751	0.94[EUR][1000 genomes]
rs7962125	0.94[EUR][1000 genomes]
rs7965407	0.94[EUR][1000 genomes]
rs7968717	0.94[EUR][1000 genomes]
rs7978536	0.92[EUR][1000 genomes]
rs7980551	0.94[EUR][1000 genomes]
rs9737587	0.94[EUR][1000 genomes]
rs9739927	0.94[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
4	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122179800-122211000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:122183800-122224400	Weak transcription	Small Intestine	intestine
3	chr12:122184800-122208000	Weak transcription	Colonic Mucosa	Colon
4	chr12:122187000-122207600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:122187000-122208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:122187200-122205600	Weak transcription	Fetal Lung	lung
7	chr12:122187400-122213800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:122187400-122213800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:122188400-122205600	Weak transcription	Aorta	Aorta
10	chr12:122188400-122207400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:122188800-122205600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122188800-122205600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:122189200-122210800	Weak transcription	GM12878-XiMat	blood
14	chr12:122189200-122211000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:122190200-122205600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:122190400-122217000	Weak transcription	Esophagus	oesophagus
17	chr12:122192800-122205400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:122193000-122207600	Weak transcription	Liver	Liver
19	chr12:122193000-122211000	Weak transcription	Pancreas	Pancrea
20	chr12:122193200-122211000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:122193600-122206400	Weak transcription	Fetal Intestine Large	intestine
22	chr12:122195000-122211000	Weak transcription	Fetal Thymus	thymus
23	chr12:122195000-122211200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:122195000-122211200	Weak transcription	Thymus	Thymus
25	chr12:122195000-122212600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:122195000-122213800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:122196200-122211000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:122197600-122205800	Weak transcription	Gastric	stomach
29	chr12:122200200-122205600	Weak transcription	Spleen	Spleen
30	chr12:122200600-122205400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:122200600-122211000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:122200800-122205400	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:122200800-122205600	Weak transcription	Placenta	Placenta
34	chr12:122200800-122205800	Weak transcription	Right Atrium	heart
35	chr12:122200800-122213800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:122201000-122205600	Weak transcription	Left Ventricle	heart
37	chr12:122201200-122205400	Weak transcription	Brain Germinal Matrix	brain
38	chr12:122201600-122206600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:122201600-122206800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:122202000-122206200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:122202600-122205600	Enhancers	NHLF	lung
42	chr12:122202600-122206400	Enhancers	NH-A	brain
43	chr12:122202800-122205400	Genic enhancers	Fetal Muscle Leg	muscle
44	chr12:122203400-122205400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:122203400-122205400	Enhancers	Stomach Smooth Muscle	stomach
46	chr12:122203400-122205400	Enhancers	NHDF-Ad	bronchial
47	chr12:122203400-122205600	Enhancers	Colon Smooth Muscle	Colon
48	chr12:122203400-122205800	Enhancers	HSMM	muscle
49	chr12:122203400-122206000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr12:122203400-122206200	Enhancers	Muscle Satellite Cultured Cells	--

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