Variant report

Variant	rs551565135
Chromosome Location	chr12:21613122-21613123
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:21610623-21613225	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PYROXD1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898895	chr12:21561645-21621891	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv1054220	chr12:21612158-21692103	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21591800-21614600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:21591800-21614800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:21591800-21621000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:21591800-21624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:21592000-21614200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:21592000-21620600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:21592000-21631000	Weak transcription	Psoas Muscle	Psoas
8	chr12:21592800-21631400	Weak transcription	K562	blood
9	chr12:21593400-21617800	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr12:21594000-21617600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:21594800-21613200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:21595600-21626200	Weak transcription	Right Ventricle	heart
13	chr12:21595800-21624400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:21595800-21631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:21595800-21632600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:21595800-21633200	Weak transcription	Gastric	stomach
17	chr12:21595800-21650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:21596000-21631600	Weak transcription	Pancreas	Pancrea
19	chr12:21596200-21625000	Weak transcription	NHLF	lung
20	chr12:21597000-21617800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:21597400-21636000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:21598000-21620000	Weak transcription	A549	lung
23	chr12:21598200-21617800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:21598400-21617800	Strong transcription	Adipose Nuclei	Adipose
25	chr12:21598600-21617600	Strong transcription	Primary B cells from cord blood	blood
26	chr12:21599000-21624400	Weak transcription	Fetal Brain Male	brain
27	chr12:21599000-21629600	Weak transcription	Stomach Mucosa	stomach
28	chr12:21599200-21614400	Weak transcription	HUVEC	blood vessel
29	chr12:21600000-21624400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:21600400-21624400	Weak transcription	Fetal Kidney	kidney
31	chr12:21602600-21617600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:21603800-21613200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:21606800-21613200	Strong transcription	Hela-S3	cervix
34	chr12:21607000-21645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:21607400-21617600	Strong transcription	Placenta	Placenta
36	chr12:21607600-21617600	Strong transcription	Liver	Liver
37	chr12:21608400-21618200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:21608600-21613200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:21609000-21613200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:21609000-21617400	Strong transcription	Fetal Intestine Large	intestine
41	chr12:21609200-21614600	Strong transcription	Fetal Muscle Leg	muscle
42	chr12:21609200-21615000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:21609800-21613200	Strong transcription	Fetal Thymus	thymus
44	chr12:21609800-21615600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:21609800-21617800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:21610000-21614200	Weak transcription	NHDF-Ad	bronchial
47	chr12:21610000-21614400	Weak transcription	NH-A	brain
48	chr12:21610000-21617600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:21610000-21617800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr12:21610200-21613600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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