Variant report

Variant	rs6489161
Chromosome Location	chr12:123114017-123114018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12301352	1.00[MEX][hapmap]
rs55817227	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55935830	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56019922	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56990369	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57142071	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57766838	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58276954	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60586933	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61062446	1.00[AMR][1000 genomes]
rs61275910	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61585633	1.00[AMR][1000 genomes]
rs7134209	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7307052	0.84[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7310898	0.84[ASW][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960674	0.84[ASW][hapmap];0.83[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972727	1.00[AMR][1000 genomes]
rs7973067	0.84[ASW][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.94[YRI][hapmap];1.00[AMR][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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
2	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
3	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:123015600-123115000	Strong transcription	Dnd41	blood
5	chr12:123038400-123120000	Weak transcription	Small Intestine	intestine
6	chr12:123043800-123121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:123050800-123115200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:123059400-123119000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:123077400-123137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:123077600-123115000	Weak transcription	Esophagus	oesophagus
11	chr12:123077600-123128200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:123081000-123116000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:123085800-123120800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:123086400-123115000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:123086400-123115000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:123086400-123116400	Strong transcription	Fetal Thymus	thymus
17	chr12:123087000-123116200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:123087400-123115000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:123088000-123122200	Weak transcription	HSMMtube	muscle
20	chr12:123089000-123115400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:123096400-123119400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:123096400-123120200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:123097800-123122200	Weak transcription	Brain Substantia Nigra	brain
24	chr12:123099200-123122200	Weak transcription	Adipose Nuclei	Adipose
25	chr12:123099400-123116800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:123099400-123120200	Weak transcription	Fetal Brain Male	brain
27	chr12:123101600-123131000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:123104400-123114400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:123105600-123121200	Weak transcription	Left Ventricle	heart
30	chr12:123105800-123122200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:123105800-123122400	Weak transcription	NH-A	brain
32	chr12:123105800-123124600	Weak transcription	Fetal Brain Female	brain
33	chr12:123106000-123119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:123106200-123121400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:123106800-123120600	Weak transcription	Brain Germinal Matrix	brain
36	chr12:123107000-123122200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:123107800-123122200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:123108000-123116400	Weak transcription	Fetal Kidney	kidney
39	chr12:123108000-123119800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:123108000-123131400	Weak transcription	NHLF	lung
41	chr12:123108200-123121200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:123108200-123124200	Weak transcription	HMEC	breast
43	chr12:123108400-123128600	Weak transcription	Placenta	Placenta
44	chr12:123108800-123118200	Weak transcription	K562	blood
45	chr12:123108800-123122200	Weak transcription	Primary B cells from cord blood	blood
46	chr12:123109400-123118000	Weak transcription	HUVEC	blood vessel
47	chr12:123109400-123120000	Weak transcription	Fetal Lung	lung
48	chr12:123109400-123128000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:123109600-123118800	Weak transcription	NHEK	skin
50	chr12:123110600-123128000	Weak transcription	NHDF-Ad	bronchial

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