Variant report

Variant	rs575243974
Chromosome Location	chr12:121289854-121289855
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3405224	chr12:121289394-121291942	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3446240	chr12:121289469-121291617	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3390487	chr12:121289769-121291567	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121269800-121291400	Weak transcription	Fetal Intestine Large	intestine
2	chr12:121274200-121291800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:121274800-121291800	Weak transcription	Dnd41	blood
4	chr12:121281600-121296200	Weak transcription	HepG2	liver
5	chr12:121282000-121308600	Weak transcription	Fetal Kidney	kidney
6	chr12:121283200-121291200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:121283200-121310200	Weak transcription	Placenta	Placenta
8	chr12:121283400-121291800	Weak transcription	Pancreas	Pancrea
9	chr12:121283400-121307400	Weak transcription	Esophagus	oesophagus
10	chr12:121283600-121290800	Weak transcription	Gastric	stomach
11	chr12:121283600-121295600	Weak transcription	Fetal Stomach	stomach
12	chr12:121283600-121302200	Weak transcription	Lung	lung
13	chr12:121284000-121294400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:121284600-121292800	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:121285000-121290800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:121285600-121290000	Enhancers	Fetal Heart	heart
17	chr12:121286000-121291800	Weak transcription	Fetal Intestine Small	intestine
18	chr12:121286200-121291400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:121286400-121290800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:121286400-121291000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:121286400-121291000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:121286400-121291200	Weak transcription	K562	blood
23	chr12:121286400-121293800	Weak transcription	Right Ventricle	heart
24	chr12:121286600-121293600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:121286800-121291200	Weak transcription	Primary T cells from cord blood	blood
26	chr12:121287000-121290000	Enhancers	Brain Hippocampus Middle	brain
27	chr12:121287400-121290000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:121287400-121290000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr12:121287400-121290000	Enhancers	Colon Smooth Muscle	Colon
30	chr12:121287600-121290000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:121287600-121293400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:121287600-121294000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:121287800-121290000	Enhancers	Primary B cells from cord blood	blood
34	chr12:121287800-121290000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:121287800-121290200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:121287800-121290800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:121287800-121300400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:121288000-121290800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:121288000-121291000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:121288000-121291000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:121288000-121291000	Weak transcription	Adipose Nuclei	Adipose
42	chr12:121288000-121291000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:121288000-121292800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:121288000-121293400	Weak transcription	Brain Substantia Nigra	brain
45	chr12:121288000-121294400	Weak transcription	Right Atrium	heart
46	chr12:121288000-121294600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:121288000-121300200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:121288000-121311800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:121288000-121316600	Weak transcription	NHLF	lung
50	chr12:121288200-121290200	Enhancers	NHEK	skin

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