Variant report

Variant	rs12048219
Chromosome Location	chr1:93703919-93703920
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	chr1:93702441..93705193-chr1:93708597..93710814,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10874766	0.85[ASN][1000 genomes]
rs11164885	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11164896	0.83[ASN][1000 genomes]
rs11164897	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11164905	0.80[ASN][1000 genomes]
rs11164908	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12027142	0.88[ASN][1000 genomes]
rs12030843	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12031709	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12031765	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12033147	0.80[ASN][1000 genomes]
rs12036057	0.80[ASN][1000 genomes]
rs12044557	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12045001	0.83[ASN][1000 genomes]
rs12046063	0.88[ASN][1000 genomes]
rs12405487	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12563120	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12563709	0.83[ASN][1000 genomes]
rs12566752	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1537758	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1967721	0.89[EUR][1000 genomes]
rs2391251	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2783489	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2783499	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2783500	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2783501	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2783504	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2815415	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28782525	0.90[ASN][1000 genomes]
rs2893242	0.90[ASN][1000 genomes]
rs35628716	0.81[ASN][1000 genomes]
rs3754186	0.81[ASN][1000 genomes]
rs3904665	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3904666	0.90[ASN][1000 genomes]
rs4484937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs531514	0.82[ASN][1000 genomes]
rs58354545	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61266405	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61799496	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61799497	0.88[ASN][1000 genomes]
rs61799500	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61799516	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61799517	0.83[ASN][1000 genomes]
rs61799538	0.80[ASN][1000 genomes]
rs622608	0.82[ASN][1000 genomes]
rs637646	0.82[ASN][1000 genomes]
rs6541349	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6676902	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6684908	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs682514	0.82[ASN][1000 genomes]
rs687394	0.82[ASN][1000 genomes]
rs698927	0.81[ASN][1000 genomes]
rs72959220	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7512911	0.82[ASN][1000 genomes]
rs771458	0.81[ASN][1000 genomes]
rs771462	0.81[ASN][1000 genomes]
rs797666	0.81[ASN][1000 genomes]
rs797672	0.82[ASN][1000 genomes]
rs797681	0.82[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	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93756400	Weak transcription	Gastric	stomach
2	chr1:93647200-93707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:93647600-93706600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:93654200-93708400	Weak transcription	Esophagus	oesophagus
6	chr1:93654600-93708000	Weak transcription	Ovary	ovary
7	chr1:93657600-93708400	Weak transcription	Left Ventricle	heart
8	chr1:93660600-93705200	Weak transcription	Lung	lung
9	chr1:93661400-93708200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:93661800-93708200	Weak transcription	Fetal Brain Female	brain
11	chr1:93663600-93705600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:93665400-93708400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:93665400-93708400	Weak transcription	Spleen	Spleen
14	chr1:93665600-93707800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:93665800-93706600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:93665800-93707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:93666600-93727000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:93668800-93708400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:93672600-93708400	Weak transcription	Placenta	Placenta
20	chr1:93673800-93707400	Weak transcription	A549	lung
21	chr1:93682000-93704000	Weak transcription	Psoas Muscle	Psoas
22	chr1:93682400-93708800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:93684800-93708400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:93685200-93705400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:93685200-93707400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:93685400-93708400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:93685600-93708400	Weak transcription	NH-A	brain
28	chr1:93685600-93709200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:93686600-93705000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:93686600-93706600	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:93686600-93708400	Weak transcription	Aorta	Aorta
32	chr1:93686800-93708400	Weak transcription	Fetal Lung	lung
33	chr1:93687000-93705600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:93688000-93705600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:93688200-93714800	Weak transcription	HSMMtube	muscle
36	chr1:93689200-93708400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:93690000-93705200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:93690200-93705400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:93690200-93707400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:93690200-93708600	Weak transcription	NHLF	lung
41	chr1:93690400-93729400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:93691200-93732400	Weak transcription	HUVEC	blood vessel
43	chr1:93691400-93705200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:93691800-93705000	Weak transcription	NHDF-Ad	bronchial
45	chr1:93692200-93787800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:93693400-93706600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:93693400-93709200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:93693600-93705200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:93694000-93706600	Weak transcription	Thymus	Thymus
50	chr1:93694200-93707800	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links