Variant report

Variant	rs3825174
Chromosome Location	chr12:122079429-122079430
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	chr12:122076056..122078021-chr12:122078121..122080621,2	K562	blood:
2	chr12:122072717..122074478-chr12:122079333..122082126,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11548651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741597	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs55697220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55943805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56703954	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57017551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57651627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57878155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57969678	0.82[AFR][1000 genomes]
rs58395076	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58690118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59041250	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59599225	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59776246	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59777768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59837065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61103451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61648968	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61698005	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122065400-122080800	Weak transcription	Aorta	Aorta
2	chr12:122066200-122090400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:122066400-122096600	Weak transcription	Brain Anterior Caudate	brain
4	chr12:122067800-122096600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:122069400-122082200	Weak transcription	NHDF-Ad	bronchial
6	chr12:122069400-122090800	Weak transcription	Hela-S3	cervix
7	chr12:122070800-122081000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:122071200-122087200	Weak transcription	Left Ventricle	heart
9	chr12:122071400-122081200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:122071400-122088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:122071400-122090200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:122071400-122095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:122071400-122096600	Weak transcription	Colonic Mucosa	Colon
14	chr12:122071400-122096600	Weak transcription	Right Atrium	heart
15	chr12:122071600-122079600	Weak transcription	Brain Substantia Nigra	brain
16	chr12:122073000-122089400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:122073000-122091200	Strong transcription	Fetal Intestine Small	intestine
18	chr12:122073200-122080200	Weak transcription	HSMM	muscle
19	chr12:122073200-122082000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:122073200-122085600	Weak transcription	HSMMtube	muscle
21	chr12:122074200-122081800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:122075400-122082800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:122075600-122081400	Weak transcription	Psoas Muscle	Psoas
24	chr12:122075600-122084800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:122076200-122091200	Strong transcription	Fetal Stomach	stomach
26	chr12:122076400-122079600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:122076400-122081000	Strong transcription	GM12878-XiMat	blood
28	chr12:122076400-122090600	Weak transcription	NHEK	skin
29	chr12:122076800-122086400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:122076800-122087000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:122077000-122080400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:122077000-122080600	Weak transcription	HepG2	liver
33	chr12:122077000-122084000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:122077200-122084800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:122077400-122081000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr12:122077400-122085200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:122077400-122096400	Weak transcription	Osteobl	bone
38	chr12:122077600-122080400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:122077600-122080400	Strong transcription	Fetal Muscle Leg	muscle
40	chr12:122077600-122082000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:122078000-122080200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:122078000-122080400	Strong transcription	Primary B cells from cord blood	blood
43	chr12:122078000-122081800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:122078000-122082800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:122078200-122082200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:122078400-122080000	Strong transcription	Fetal Intestine Large	intestine
47	chr12:122078600-122079600	Genic enhancers	Thymus	Thymus
48	chr12:122078600-122080000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:122078600-122080200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr12:122078600-122080200	Genic enhancers	Fetal Thymus	thymus

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