Variant report

Variant	rs571175557
Chromosome Location	chr12:123412771-123412772
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	chr12:123406897..123409663-chr12:123410616..123413101,2	K562	blood:
2	chr12:123404141..123406851-chr12:123412530..123414179,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv976725	chr12:123412328-123429898	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123401400-123417200	Weak transcription	Osteobl	bone
2	chr12:123401400-123425200	Weak transcription	Esophagus	oesophagus
3	chr12:123401400-123426000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:123402600-123416400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:123402600-123429200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:123402800-123414000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:123402800-123414200	Weak transcription	Ovary	ovary
8	chr12:123402800-123414600	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:123402800-123415400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:123402800-123416400	Weak transcription	Brain Substantia Nigra	brain
11	chr12:123402800-123426600	Weak transcription	NHLF	lung
12	chr12:123402800-123429200	Weak transcription	Gastric	stomach
13	chr12:123402800-123430800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:123403000-123413800	Weak transcription	Pancreas	Pancrea
15	chr12:123403000-123414200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:123403000-123414200	Weak transcription	Brain Angular Gyrus	brain
17	chr12:123403000-123414400	Weak transcription	Right Ventricle	heart
18	chr12:123403000-123416600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:123403000-123426400	Weak transcription	Left Ventricle	heart
20	chr12:123403000-123428800	Weak transcription	Lung	lung
21	chr12:123403000-123444200	Weak transcription	Aorta	Aorta
22	chr12:123403400-123414200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:123403400-123427000	Weak transcription	A549	lung
24	chr12:123403600-123413200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:123405200-123416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:123405200-123424800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:123405200-123428600	Weak transcription	NHEK	skin
28	chr12:123405400-123414000	Weak transcription	Fetal Intestine Small	intestine
29	chr12:123406800-123414200	Weak transcription	Fetal Stomach	stomach
30	chr12:123406800-123415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:123406800-123417000	Weak transcription	Fetal Lung	lung
32	chr12:123406800-123419800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:123406800-123426600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:123408600-123413800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:123408600-123414200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:123408800-123414200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:123409200-123412800	Enhancers	GM12878-XiMat	blood
38	chr12:123409200-123413400	Enhancers	Primary B cells from peripheral blood	blood
39	chr12:123409400-123413800	Weak transcription	Brain Anterior Caudate	brain
40	chr12:123409400-123427600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:123409800-123413400	Weak transcription	Fetal Brain Female	brain
42	chr12:123410000-123413000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:123410000-123414000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:123410000-123414600	Weak transcription	Brain Germinal Matrix	brain
45	chr12:123410200-123413200	Enhancers	Primary B cells from cord blood	blood
46	chr12:123410400-123413400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:123411200-123412800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:123411200-123412800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:123411200-123412800	Enhancers	Fetal Thymus	thymus
50	chr12:123411800-123428800	Weak transcription	Fetal Brain Male	brain

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