Variant report

Variant	rs17193036
Chromosome Location	chr12:104485929-104485930
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11837739	1.00[MEX][hapmap]
rs17192938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17193064	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17193219	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17806516	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17806577	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.81[AMR][1000 genomes]
rs4257050	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59097029	0.86[AMR][1000 genomes]
rs59714382	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61234792	0.86[AMR][1000 genomes]
rs61440530	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61610230	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7313573	0.86[AMR][1000 genomes]
rs73390481	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979713	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:104460000-104496800	Weak transcription	HepG2	liver
3	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
4	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
5	chr12:104461200-104492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:104470600-104486200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:104471000-104499600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:104471400-104500000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:104472000-104497400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:104472400-104486200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:104472400-104497400	Strong transcription	Placenta	Placenta
12	chr12:104472400-104501200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:104472600-104497200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:104475800-104489400	Strong transcription	Stomach Smooth Muscle	stomach
15	chr12:104476200-104497400	Strong transcription	Adipose Nuclei	Adipose
16	chr12:104476600-104486200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:104476600-104488200	Strong transcription	Fetal Lung	lung
18	chr12:104477000-104486200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:104477200-104508400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:104478200-104492800	Weak transcription	NHEK	skin
21	chr12:104478400-104492800	Weak transcription	Spleen	Spleen
22	chr12:104478600-104487600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:104478600-104487800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:104478600-104499400	Weak transcription	Fetal Heart	heart
25	chr12:104479600-104486200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:104479600-104486200	Strong transcription	Fetal Muscle Leg	muscle
27	chr12:104479600-104489000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:104480000-104508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:104480600-104489600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:104480600-104497600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:104481000-104495000	Weak transcription	Esophagus	oesophagus
32	chr12:104481000-104499400	Weak transcription	Stomach Mucosa	stomach
33	chr12:104481000-104500800	Weak transcription	K562	blood
34	chr12:104481200-104486000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:104481200-104492400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:104481800-104486000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:104482200-104490800	Weak transcription	Brain Angular Gyrus	brain
38	chr12:104482400-104490000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:104482400-104493000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:104482600-104487200	Weak transcription	HMEC	breast
41	chr12:104482600-104491800	Weak transcription	Fetal Kidney	kidney
42	chr12:104482600-104492800	Weak transcription	Fetal Brain Male	brain
43	chr12:104482800-104487200	Weak transcription	NH-A	brain
44	chr12:104482800-104492400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:104482800-104508200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:104483000-104487600	Weak transcription	NHLF	lung
47	chr12:104483000-104488000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:104483000-104488400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:104483000-104490200	Weak transcription	GM12878-XiMat	blood
50	chr12:104483000-104491800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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