Variant report

Variant	rs12982734
Chromosome Location	chr19:38593151-38593152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12459984	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12460013	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12461387	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12461946	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12462587	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12971962	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12974504	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12979004	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12981412	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12982030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12983059	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12983497	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12984380	0.82[ASN][1000 genomes]
rs12985707	0.84[ASN][1000 genomes]
rs1962866	0.83[ASN][1000 genomes]
rs2382972	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2382973	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs35469521	0.83[ASN][1000 genomes]
rs3745943	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3852910	0.84[ASN][1000 genomes]
rs3852911	0.84[ASN][1000 genomes]
rs4802230	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803747	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67910767	0.81[ASN][1000 genomes]
rs71337549	0.80[ASN][1000 genomes]
rs7253633	0.81[ASN][1000 genomes]
rs8102589	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38551200-38613800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:38567600-38605400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:38573600-38610000	Strong transcription	Fetal Intestine Large	intestine
4	chr19:38580400-38594800	Weak transcription	HSMMtube	muscle
5	chr19:38580600-38596000	Weak transcription	Stomach Mucosa	stomach
6	chr19:38581600-38610000	Weak transcription	Psoas Muscle	Psoas
7	chr19:38584400-38597000	Weak transcription	Right Atrium	heart
8	chr19:38584800-38602400	Weak transcription	Fetal Brain Male	brain
9	chr19:38584800-38602400	Weak transcription	Fetal Heart	heart
10	chr19:38587000-38605400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr19:38587200-38603200	Strong transcription	Primary B cells from cord blood	blood
12	chr19:38587200-38613600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:38587400-38613400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr19:38588400-38593400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:38588600-38597200	Strong transcription	Osteobl	bone
16	chr19:38588600-38604000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:38588800-38606600	Strong transcription	Liver	Liver
18	chr19:38589200-38606800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr19:38589400-38593400	Strong transcription	Primary T cells from cord blood	blood
20	chr19:38589400-38595200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:38590000-38593400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr19:38590000-38593400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:38590000-38593800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:38590000-38594000	Strong transcription	Rectal Smooth Muscle	rectum
25	chr19:38590200-38593200	Strong transcription	Ovary	ovary
26	chr19:38590200-38594000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:38590200-38597200	Strong transcription	Gastric	stomach
28	chr19:38590200-38605200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:38590200-38605800	Strong transcription	Adipose Nuclei	Adipose
30	chr19:38590200-38606600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr19:38590200-38606600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr19:38590200-38611000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr19:38590400-38593200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr19:38590400-38593200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:38590400-38593200	Strong transcription	Brain Cingulate Gyrus	brain
36	chr19:38590400-38593400	Strong transcription	Brain Angular Gyrus	brain
37	chr19:38590400-38593400	Strong transcription	Right Ventricle	heart
38	chr19:38590400-38594000	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:38590400-38595000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr19:38590400-38599200	Strong transcription	Pancreas	Pancrea
41	chr19:38590400-38606400	Strong transcription	Fetal Brain Female	brain
42	chr19:38590400-38609800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:38590800-38593600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:38590800-38593800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr19:38590800-38594000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr19:38590800-38594000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr19:38590800-38596800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:38590800-38597200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:38590800-38602800	Strong transcription	Spleen	Spleen
50	chr19:38590800-38603600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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