Variant report

Variant	rs73248054
Chromosome Location	chr12:21606565-21606566
allele	C/G
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	chr12:21605422-21607150	HepG2	liver:	n/a	n/a
2	TBP	chr12:21606467-21606581	GM12878	blood:	n/a	n/a
3	BHLHE40	chr12:21606320-21606598	GM12878	blood:	n/a	n/a
4	ZNF143	chr12:21606454-21606620	GM12878	blood:	n/a	n/a
5	EBF1	chr12:21606528-21606721	GM12878	blood:	n/a	n/a
6	STAT1	chr12:21606490-21606629	GM12878	blood:	n/a	n/a
7	IRF3	chr12:21606480-21606635	GM12878	blood:	n/a	chr12:21606546-21606557 chr12:21606545-21606556
8	STAT3	chr12:21606458-21606581	GM12878	blood:	n/a	n/a
9	IKZF1	chr12:21606481-21606806	GM12878	blood:	n/a	n/a
10	EP300	chr12:21606402-21606687	GM12878	blood:	n/a	n/a
11	CHD2	chr12:21606370-21606658	GM12878	blood:	n/a	n/a
12	MXI1	chr12:21606427-21606643	GM12878	blood:	n/a	n/a
13	BATF	chr12:21606428-21606641	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:21591250..21594769-chr12:21604296..21607496,3	K562	blood:
2	chr12:21596051..21598207-chr12:21604711..21607074,2	K562	blood:
3	chr12:21604541..21606934-chr12:21615534..21618211,2	K562	blood:

Variant related genes	Relation type
PYROXD1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11046128	1.00[EUR][1000 genomes]
rs55785938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56317413	1.00[EUR][1000 genomes]
rs57358745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57595949	1.00[EUR][1000 genomes]
rs58874042	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58884256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60848157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73244989	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73246509	1.00[EUR][1000 genomes]
rs73248030	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73249909	1.00[EUR][1000 genomes]
rs73249914	1.00[EUR][1000 genomes]
rs73251658	1.00[EUR][1000 genomes]
rs74066470	1.00[EUR][1000 genomes]
rs74066472	1.00[EUR][1000 genomes]
rs74066477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74066478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74066715	1.00[EUR][1000 genomes]
rs74066717	1.00[EUR][1000 genomes]
rs74067190	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74069429	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21591600-21609000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:21591600-21609000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:21591600-21609200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:21591800-21609000	Weak transcription	Fetal Heart	heart
5	chr12:21591800-21611000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:21591800-21614600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:21591800-21614800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:21591800-21621000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:21591800-21624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:21592000-21614200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:21592000-21620600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:21592000-21631000	Weak transcription	Psoas Muscle	Psoas
13	chr12:21592200-21609000	Weak transcription	NH-A	brain
14	chr12:21592200-21609000	Weak transcription	NHDF-Ad	bronchial
15	chr12:21592200-21609200	Weak transcription	Brain Substantia Nigra	brain
16	chr12:21592400-21610400	Weak transcription	NHEK	skin
17	chr12:21592600-21609200	Weak transcription	Small Intestine	intestine
18	chr12:21592800-21631400	Weak transcription	K562	blood
19	chr12:21593400-21606600	Strong transcription	Liver	Liver
20	chr12:21593400-21609000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:21593400-21609000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:21593400-21617800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr12:21594000-21617600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:21594800-21613200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:21595200-21608800	Weak transcription	HMEC	breast
26	chr12:21595600-21609200	Weak transcription	Colonic Mucosa	Colon
27	chr12:21595600-21626200	Weak transcription	Right Ventricle	heart
28	chr12:21595800-21609000	Weak transcription	Brain Germinal Matrix	brain
29	chr12:21595800-21609000	Weak transcription	HSMMtube	muscle
30	chr12:21595800-21609200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:21595800-21609200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:21595800-21610400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:21595800-21611000	Weak transcription	HepG2	liver
34	chr12:21595800-21624400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:21595800-21631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:21595800-21632600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:21595800-21633200	Weak transcription	Gastric	stomach
38	chr12:21595800-21650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:21596000-21611800	Weak transcription	Aorta	Aorta
40	chr12:21596000-21631600	Weak transcription	Pancreas	Pancrea
41	chr12:21596200-21625000	Weak transcription	NHLF	lung
42	chr12:21597000-21617800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:21597400-21636000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:21597600-21606600	Strong transcription	Primary T cells from cord blood	blood
45	chr12:21597800-21607000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:21598000-21620000	Weak transcription	A549	lung
47	chr12:21598200-21607000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:21598200-21617800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:21598400-21617800	Strong transcription	Adipose Nuclei	Adipose
50	chr12:21598600-21617600	Strong transcription	Primary B cells from cord blood	blood

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