Variant report

Variant	rs10773378
Chromosome Location	chr12:123113417-123113418
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10744294	0.96[ASN][1000 genomes]
rs10847227	0.91[ASN][1000 genomes]
rs10847235	0.86[ASN][1000 genomes]
rs11058603	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11058607	0.85[ASN][1000 genomes]
rs11058649	0.86[ASN][1000 genomes]
rs11058721	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11058772	0.90[ASN][1000 genomes]
rs11058796	0.91[ASN][1000 genomes]
rs11058812	0.86[ASN][1000 genomes]
rs11058868	0.92[ASN][1000 genomes]
rs11058904	0.82[ASN][1000 genomes]
rs11059008	0.97[ASN][1000 genomes]
rs11059023	0.94[ASN][1000 genomes]
rs11059028	0.97[ASN][1000 genomes]
rs12230600	0.88[ASN][1000 genomes]
rs12819165	0.86[ASN][1000 genomes]
rs12827322	0.86[ASN][1000 genomes]
rs12829891	0.91[ASN][1000 genomes]
rs1392237	0.97[ASN][1000 genomes]
rs2270775	0.97[ASN][1000 genomes]
rs2277346	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34031587	0.94[ASN][1000 genomes]
rs35139892	0.86[ASN][1000 genomes]
rs35685258	0.97[ASN][1000 genomes]
rs35825023	0.97[ASN][1000 genomes]
rs36008586	0.86[ASN][1000 genomes]
rs57721222	0.95[ASN][1000 genomes]
rs61954998	0.97[ASN][1000 genomes]
rs61956128	0.86[ASN][1000 genomes]
rs61956132	0.86[ASN][1000 genomes]
rs6489111	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66893471	0.95[ASN][1000 genomes]
rs7296826	0.97[ASN][1000 genomes]
rs7297692	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7301815	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7310366	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73409839	0.97[ASN][1000 genomes]
rs7485035	0.85[ASN][1000 genomes]
rs7953379	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7954964	0.97[ASN][1000 genomes]
rs7976597	0.85[ASN][1000 genomes]
rs7977922	0.85[ASN][1000 genomes]
rs7979860	0.90[ASN][1000 genomes]
rs7979863	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 gene(s)	inside rSNPs	diseases
2	nsv1054458	chr12:123045662-123133545	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv2761772	chr12:123045674-123115508	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
3	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
4	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:123015600-123115000	Strong transcription	Dnd41	blood
6	chr12:123022600-123113800	Weak transcription	Colonic Mucosa	Colon
7	chr12:123038400-123120000	Weak transcription	Small Intestine	intestine
8	chr12:123043800-123121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:123050800-123115200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:123059400-123119000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:123077400-123137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:123077600-123115000	Weak transcription	Esophagus	oesophagus
13	chr12:123077600-123128200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:123081000-123116000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:123085800-123120800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:123086400-123115000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:123086400-123115000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:123086400-123116400	Strong transcription	Fetal Thymus	thymus
19	chr12:123087000-123116200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:123087400-123115000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:123088000-123122200	Weak transcription	HSMMtube	muscle
22	chr12:123089000-123115400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:123096400-123113600	Weak transcription	Gastric	stomach
24	chr12:123096400-123119400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:123096400-123120200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:123097800-123122200	Weak transcription	Brain Substantia Nigra	brain
27	chr12:123099200-123122200	Weak transcription	Adipose Nuclei	Adipose
28	chr12:123099400-123116800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:123099400-123120200	Weak transcription	Fetal Brain Male	brain
30	chr12:123101600-123131000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:123104400-123114400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:123105600-123121200	Weak transcription	Left Ventricle	heart
33	chr12:123105800-123122200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:123105800-123122400	Weak transcription	NH-A	brain
35	chr12:123105800-123124600	Weak transcription	Fetal Brain Female	brain
36	chr12:123106000-123119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:123106200-123121400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:123106800-123120600	Weak transcription	Brain Germinal Matrix	brain
39	chr12:123107000-123122200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:123107800-123122200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:123108000-123116400	Weak transcription	Fetal Kidney	kidney
42	chr12:123108000-123119800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:123108000-123131400	Weak transcription	NHLF	lung
44	chr12:123108200-123121200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:123108200-123124200	Weak transcription	HMEC	breast
46	chr12:123108400-123113600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:123108400-123128600	Weak transcription	Placenta	Placenta
48	chr12:123108800-123113800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:123108800-123118200	Weak transcription	K562	blood
50	chr12:123108800-123122200	Weak transcription	Primary B cells from cord blood	blood

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