Variant report

Variant	rs2116685
Chromosome Location	chr3:150471469-150471470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150456316..150460204-chr3:150468516..150472450,4	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1533711	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16862837	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1814463	0.82[EUR][1000 genomes]
rs1814464	0.82[EUR][1000 genomes]
rs1879421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1879422	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1991781	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2014279	0.82[EUR][1000 genomes]
rs2018246	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2116684	0.81[ASN][1000 genomes]
rs2166061	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34348847	0.82[EUR][1000 genomes]
rs3851356	0.82[EUR][1000 genomes]
rs481236	0.88[ASN][1000 genomes]
rs502941	0.88[ASN][1000 genomes]
rs55899470	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57275328	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57359526	0.81[ASN][1000 genomes]
rs57824095	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57869178	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs594926	0.88[ASN][1000 genomes]
rs60259684	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6440696	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6440697	0.84[AMR][1000 genomes]
rs6769917	0.82[EUR][1000 genomes]
rs6777178	0.82[EUR][1000 genomes]
rs6788895	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6789306	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6805481	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73003792	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73006998	0.82[AMR][1000 genomes]
rs73006999	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73008903	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73008905	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73008907	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73010930	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73010941	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73010956	0.82[EUR][1000 genomes]
rs73010964	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73010965	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7615125	0.82[AMR][1000 genomes]
rs7615292	0.82[AMR][1000 genomes]
rs7617507	0.82[EUR][1000 genomes]
rs7636866	0.88[EUR][1000 genomes];0.90[ASN][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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150453800-150478000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:150454600-150477200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:150456400-150477600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:150456600-150477600	Weak transcription	Fetal Brain Male	brain
5	chr3:150456800-150477400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:150457000-150478800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:150457600-150477600	Weak transcription	HUVEC	blood vessel
8	chr3:150458400-150471600	Genic enhancers	HepG2	liver
9	chr3:150459000-150477600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:150460200-150477600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:150460400-150475200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:150460400-150477600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:150461200-150471800	Enhancers	Stomach Mucosa	stomach
14	chr3:150461200-150474000	Weak transcription	Dnd41	blood
15	chr3:150461800-150472000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:150462800-150477000	Weak transcription	Brain Angular Gyrus	brain
17	chr3:150463000-150475400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:150463000-150477800	Weak transcription	NH-A	brain
19	chr3:150463000-150478400	Weak transcription	HSMM	muscle
20	chr3:150463200-150475600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:150463200-150477600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:150464800-150477000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:150465000-150475200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:150466200-150477600	Weak transcription	Aorta	Aorta
25	chr3:150466400-150477800	Weak transcription	Brain Substantia Nigra	brain
26	chr3:150466800-150472800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr3:150466800-150477600	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:150467000-150477000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:150467000-150477600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr3:150467000-150477600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:150467200-150471600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr3:150467200-150473600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:150467200-150473800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:150467200-150477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:150467400-150474000	Weak transcription	Adipose Nuclei	Adipose
36	chr3:150467400-150474000	Weak transcription	Osteobl	bone
37	chr3:150467400-150477200	Weak transcription	NHDF-Ad	bronchial
38	chr3:150467400-150477600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:150468200-150472200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr3:150468200-150474000	Enhancers	Liver	Liver
41	chr3:150468400-150471600	Enhancers	Thymus	Thymus
42	chr3:150468400-150473200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr3:150469200-150472400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr3:150469400-150473200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr3:150469800-150471600	Genic enhancers	Placenta	Placenta
46	chr3:150470000-150471600	Genic enhancers	NHEK	skin
47	chr3:150470000-150472600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr3:150470000-150474000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr3:150470000-150477000	Weak transcription	A549	lung
50	chr3:150470000-150477600	Weak transcription	Fetal Lung	lung

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