Variant report

Variant	rs12529981
Chromosome Location	chr6:38494822-38494823
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	chr6:38492262..38495256-chr6:38538776..38541740,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12524226	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12525647	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12526648	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527568	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12528814	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12529497	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12529875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13200902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13203189	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13204248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13205679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13215050	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13217020	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17590777	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2395700	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34222507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34222775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34903004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35509063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35916993	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56867817	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60138764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60289806	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67863657	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923594	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6925140	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72853498	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr6:38444600-38496200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:38452400-38496600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:38476600-38499800	Weak transcription	Pancreas	Pancrea
4	chr6:38476800-38498800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:38477800-38498400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:38479000-38509800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:38485200-38496200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:38485400-38500400	Weak transcription	Gastric	stomach
9	chr6:38485800-38495600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:38486400-38495600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:38487000-38518600	Weak transcription	Primary T cells from cord blood	blood
12	chr6:38487800-38502600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:38489000-38501000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:38490200-38499600	Weak transcription	Brain Angular Gyrus	brain
15	chr6:38490400-38497800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:38490600-38495800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:38490600-38496200	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:38490600-38503400	Weak transcription	Fetal Lung	lung
19	chr6:38492800-38508000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:38493000-38495000	Weak transcription	Osteobl	bone
21	chr6:38493000-38495800	Weak transcription	NH-A	brain
22	chr6:38493400-38496400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:38493600-38498600	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr6:38493800-38495000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
25	chr6:38494000-38495600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:38494200-38495200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:38494200-38497200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:38494200-38499600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:38494200-38499800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:38494400-38495200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:38494400-38495800	Weak transcription	Fetal Stomach	stomach
32	chr6:38494400-38495800	Weak transcription	Lung	lung
33	chr6:38494400-38496000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr6:38494400-38496400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:38494400-38496600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:38494400-38497600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:38494400-38499800	Weak transcription	Left Ventricle	heart
38	chr6:38494400-38499800	Weak transcription	Spleen	Spleen
39	chr6:38494400-38500200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:38494400-38513800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:38494400-38515400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:38494400-38518800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:38494400-38524200	Weak transcription	Aorta	Aorta
44	chr6:38494600-38495600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr6:38494600-38497200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:38494800-38495800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:38494800-38499400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:38494800-38522600	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links