Variant report

Variant	rs12992427
Chromosome Location	chr2:231319944-231319945
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10202501	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933337	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694867	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987948	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006418	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017690	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17273810	0.81[AFR][1000 genomes]
rs6737596	0.92[AMR][1000 genomes];0.92[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking 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	18 gene(s)	inside rSNPs	diseases
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
2	chr2:231301800-231345000	Weak transcription	A549	lung
3	chr2:231304400-231320800	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:231306600-231323400	Weak transcription	K562	blood
5	chr2:231307400-231321800	Strong transcription	Liver	Liver
6	chr2:231307600-231336600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr2:231308800-231320800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:231308800-231337000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:231308800-231337400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:231309600-231336800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:231310800-231321800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:231311400-231324800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:231311600-231321000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:231312400-231337000	Weak transcription	HepG2	liver
15	chr2:231312400-231337200	Weak transcription	Hela-S3	cervix
16	chr2:231314000-231320000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:231314600-231321600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:231314600-231321600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:231314600-231322400	ZNF genes & repeats	GM12878-XiMat	blood
20	chr2:231314800-231321800	Weak transcription	Esophagus	oesophagus
21	chr2:231314800-231321800	Weak transcription	Gastric	stomach
22	chr2:231315000-231320800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:231315000-231321800	Weak transcription	Aorta	Aorta
24	chr2:231315000-231321800	Weak transcription	Fetal Stomach	stomach
25	chr2:231315000-231321800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:231315000-231321800	Weak transcription	Spleen	Spleen
27	chr2:231315000-231321800	Weak transcription	NHEK	skin
28	chr2:231315000-231322400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:231315000-231322800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:231315000-231325800	Weak transcription	Colonic Mucosa	Colon
31	chr2:231315000-231326000	Weak transcription	Right Ventricle	heart
32	chr2:231315000-231328600	Weak transcription	Small Intestine	intestine
33	chr2:231315000-231330800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:231315000-231331800	Weak transcription	Psoas Muscle	Psoas
35	chr2:231315200-231321000	Weak transcription	HSMMtube	muscle
36	chr2:231315200-231323200	Weak transcription	HMEC	breast
37	chr2:231315600-231321800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:231316000-231321400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:231316000-231321600	Weak transcription	NHLF	lung
40	chr2:231316600-231321400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:231317400-231321400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
42	chr2:231317600-231321400	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr2:231317800-231320200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr2:231318000-231320000	Weak transcription	NHDF-Ad	bronchial
45	chr2:231318000-231320000	Weak transcription	Osteobl	bone
46	chr2:231318000-231321000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:231318000-231321800	Weak transcription	Ovary	ovary
48	chr2:231318200-231320000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:231318200-231321000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr2:231318200-231321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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