Variant report

Variant	rs62149310
Chromosome Location	chr2:100618000-100618001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100615299..100618134-chr2:100624767..100626661,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10185707	0.94[EUR][1000 genomes]
rs10198062	0.94[EUR][1000 genomes]
rs10209198	0.83[EUR][1000 genomes]
rs10211423	0.94[EUR][1000 genomes]
rs13385193	0.88[EUR][1000 genomes]
rs13392222	0.84[EUR][1000 genomes]
rs13393937	0.80[EUR][1000 genomes]
rs1574207	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17023362	0.88[EUR][1000 genomes]
rs17023378	0.88[EUR][1000 genomes]
rs17023391	0.90[EUR][1000 genomes]
rs17023393	0.90[EUR][1000 genomes]
rs17023453	0.85[EUR][1000 genomes]
rs17023459	0.85[EUR][1000 genomes]
rs17352514	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17352745	0.87[EUR][1000 genomes]
rs17352801	0.87[EUR][1000 genomes]
rs17352808	0.87[EUR][1000 genomes]
rs17436955	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17436983	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17437101	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17437248	0.84[EUR][1000 genomes]
rs17437282	0.87[EUR][1000 genomes]
rs17437338	0.87[EUR][1000 genomes]
rs2001722	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2309775	0.88[EUR][1000 genomes]
rs2309776	0.80[EUR][1000 genomes]
rs4485586	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55649403	0.89[EUR][1000 genomes]
rs55681051	0.89[EUR][1000 genomes]
rs62147652	0.81[EUR][1000 genomes]
rs62147658	0.81[EUR][1000 genomes]
rs62147659	0.83[EUR][1000 genomes]
rs62149260	0.83[EUR][1000 genomes]
rs62149262	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62149263	0.83[EUR][1000 genomes]
rs62149264	0.84[AFR][1000 genomes]
rs62149268	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62149270	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62149272	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62149297	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62149298	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62149299	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62149301	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62149303	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62149304	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62149305	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62149307	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62149311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62149314	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62149316	0.93[EUR][1000 genomes]
rs62149319	0.85[EUR][1000 genomes]
rs62149320	0.87[EUR][1000 genomes]
rs62149321	0.87[EUR][1000 genomes]
rs62149341	0.87[EUR][1000 genomes]
rs62149343	0.83[EUR][1000 genomes]
rs6719214	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6736239	0.89[EUR][1000 genomes]
rs6750214	0.86[EUR][1000 genomes]
rs72819146	0.81[EUR][1000 genomes]
rs72819148	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72819149	0.83[EUR][1000 genomes]
rs72819165	0.89[EUR][1000 genomes]
rs72819167	0.87[EUR][1000 genomes]
rs9308831	0.85[EUR][1000 genomes]
rs9308832	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100550800-100618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:100563200-100625400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:100577400-100618200	Weak transcription	Aorta	Aorta
4	chr2:100577800-100623000	Weak transcription	Adipose Nuclei	Adipose
5	chr2:100577800-100623000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:100587400-100623000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr2:100587400-100623000	Weak transcription	Spleen	Spleen
8	chr2:100590400-100618000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:100592600-100626400	Weak transcription	NH-A	brain
10	chr2:100594600-100623000	Weak transcription	Gastric	stomach
11	chr2:100598600-100623000	Weak transcription	Lung	lung
12	chr2:100605200-100627200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:100605400-100623000	Weak transcription	Ovary	ovary
14	chr2:100605400-100627800	Weak transcription	Right Ventricle	heart
15	chr2:100607400-100623000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:100607800-100622800	Weak transcription	Brain Germinal Matrix	brain
17	chr2:100610800-100625800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:100613200-100626200	Strong transcription	Primary B cells from cord blood	blood
20	chr2:100613400-100618800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr2:100614400-100625600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:100614600-100620600	Enhancers	Fetal Brain Male	brain
23	chr2:100614800-100623400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:100615000-100623000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:100615000-100623000	Weak transcription	Thymus	Thymus
26	chr2:100615600-100618200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:100615600-100621200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:100615600-100626600	Strong transcription	Primary T cells from cord blood	blood
29	chr2:100615600-100638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:100616000-100623000	Weak transcription	Fetal Lung	lung
31	chr2:100616000-100623000	Weak transcription	Osteobl	bone
32	chr2:100616200-100618400	Strong transcription	Fetal Thymus	thymus
33	chr2:100616200-100621400	Weak transcription	Right Atrium	heart
34	chr2:100616400-100618400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:100616400-100620000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:100616600-100619000	Weak transcription	Fetal Kidney	kidney
37	chr2:100616600-100625200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:100616800-100619400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:100616800-100619600	Strong transcription	Dnd41	blood
40	chr2:100617000-100619200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:100617200-100618600	Enhancers	GM12878-XiMat	blood
42	chr2:100617200-100625800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:100617400-100618400	Weak transcription	Fetal Brain Female	brain
44	chr2:100617600-100627400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:100617800-100618600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr2:100617800-100626200	Weak transcription	Placenta	Placenta
47	chr2:100618000-100618600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:100618000-100618600	Strong transcription	Fetal Stomach	stomach

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