Variant report

Variant	rs12819044
Chromosome Location	chr12:104854634-104854635
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104831707..104833873-chr12:104852450..104855166,2	K562	blood:
2	chr12:104852839..104855254-chr12:104863893..104866118,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10778335	0.85[EUR][1000 genomes]
rs10861220	0.84[EUR][1000 genomes]
rs35676334	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4964292	0.83[EUR][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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104850800-104855800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr12:104852000-104855600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
3	chr12:104852200-104855400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr12:104852400-104855600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr12:104852600-104854800	Flanking Active TSS	K562	blood
6	chr12:104852600-104855000	Active TSS	Brain Hippocampus Middle	brain
7	chr12:104852800-104855000	Active TSS	Duodenum Mucosa	Duodenum
8	chr12:104852800-104857400	Weak transcription	Psoas Muscle	Psoas
9	chr12:104853000-104854800	Weak transcription	Liver	Liver
10	chr12:104853000-104855400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:104853000-104855400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr12:104853000-104855600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:104853200-104854800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:104853200-104854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:104853200-104854800	Weak transcription	Right Ventricle	heart
16	chr12:104853200-104855000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:104853200-104855400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:104853200-104855600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:104853200-104855600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr12:104853200-104856600	Weak transcription	Left Ventricle	heart
21	chr12:104853200-104868600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:104853400-104854800	Enhancers	Colon Smooth Muscle	Colon
23	chr12:104853400-104854800	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:104853400-104855000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:104853400-104855000	Weak transcription	Placenta	Placenta
26	chr12:104853400-104855200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:104853400-104855400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:104853400-104855400	Enhancers	Brain Germinal Matrix	brain
29	chr12:104853400-104855400	Enhancers	Fetal Brain Male	brain
30	chr12:104853400-104856600	Weak transcription	Brain Substantia Nigra	brain
31	chr12:104853400-104862200	Weak transcription	Gastric	stomach
32	chr12:104853400-104863000	Weak transcription	Pancreas	Pancrea
33	chr12:104853400-104863200	Weak transcription	Aorta	Aorta
34	chr12:104853600-104854800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:104853600-104854800	Weak transcription	NH-A	brain
36	chr12:104853600-104854800	Weak transcription	Osteobl	bone
37	chr12:104853600-104855200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:104853600-104855200	Enhancers	Lung	lung
39	chr12:104853600-104855400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:104853600-104855400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:104853600-104855400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:104853600-104855600	Enhancers	HUVEC	blood vessel
43	chr12:104853600-104856400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:104853600-104856400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:104853600-104856600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr12:104853600-104856800	Weak transcription	Fetal Stomach	stomach
47	chr12:104853600-104858200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:104853600-104858800	Weak transcription	Brain Angular Gyrus	brain
49	chr12:104853600-104867000	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:104853800-104854800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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