Variant report

Variant	rs12544232
Chromosome Location	chr8:103878581-103878582
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:103873647-103878981	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
2	chr8:103422749..103426860-chr8:103874401..103878662,6	MCF-7	breast:
3	chr8:103878528..103880938-chr8:104070739..104073317,2	MCF-7	breast:
4	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
5	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:
6	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
7	chr8:103875112..103879316-chr8:103972204..103974673,4	MCF-7	breast:
8	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
9	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
10	chr8:103877044..103878892-chr8:103894201..103897134,2	K562	blood:
11	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
12	chr8:103876310..103878750-chr8:103935739..103937868,3	MCF-7	breast:
13	chr8:103874632..103878836-chr8:104074842..104078968,5	MCF-7	breast:

No data

Variant related genes	Relation type
AZIN1	TF binding region
ENSG00000104517	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000244052	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000265898	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1019975	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10505040	0.92[ASN][1000 genomes]
rs12546193	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12546479	0.86[AMR][1000 genomes]
rs12546634	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12546960	0.86[AMR][1000 genomes]
rs12547200	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12547652	0.86[AMR][1000 genomes]
rs12548786	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12549011	0.86[AMR][1000 genomes]
rs12549073	0.86[AMR][1000 genomes]
rs12550185	0.85[AMR][1000 genomes]
rs13123	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17197341	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197736	0.86[AMR][1000 genomes]
rs17198079	0.82[AMR][1000 genomes]
rs17775450	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17775510	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2011262	0.83[EUR][1000 genomes]
rs2137339	0.86[AMR][1000 genomes]
rs2304348	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2304349	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2388369	0.86[AMR][1000 genomes]
rs2388370	0.86[AMR][1000 genomes]
rs28542883	0.86[ASN][1000 genomes]
rs4734670	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4734672	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4734673	0.86[AMR][1000 genomes]
rs4734674	0.86[AMR][1000 genomes]
rs4734676	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734678	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56854051	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522574	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62522599	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62522602	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62522603	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62522615	0.86[AMR][1000 genomes]
rs62522616	0.86[AMR][1000 genomes]
rs62522617	0.86[AMR][1000 genomes]
rs62522618	0.86[AMR][1000 genomes]
rs62522619	0.86[AMR][1000 genomes]
rs62522620	0.86[AMR][1000 genomes]
rs62522621	0.86[AMR][1000 genomes]
rs62522622	0.86[AMR][1000 genomes]
rs62522623	0.84[AMR][1000 genomes]
rs62522624	0.86[AMR][1000 genomes]
rs62522626	0.86[AMR][1000 genomes]
rs62526529	0.86[AMR][1000 genomes]
rs62526533	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62526534	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62526538	0.92[ASN][1000 genomes]
rs62526539	0.92[ASN][1000 genomes]
rs6468846	0.92[ASN][1000 genomes]
rs6998032	0.92[ASN][1000 genomes]
rs6999267	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6999525	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7016840	0.86[ASN][1000 genomes]
rs7821657	0.86[ASN][1000 genomes]
rs7843670	0.82[ASN][1000 genomes]

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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103877000-103880600	Weak transcription	Lung	lung
2	chr8:103877000-103906800	Weak transcription	Gastric	stomach
3	chr8:103877200-103878800	Enhancers	Small Intestine	intestine
4	chr8:103877200-103879400	Enhancers	Placenta	Placenta
5	chr8:103877200-103880600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:103877200-103893200	Weak transcription	Pancreas	Pancrea
7	chr8:103877400-103878600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:103877600-103878600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:103877600-103879600	Weak transcription	Right Atrium	heart
10	chr8:103877600-103884200	Weak transcription	Aorta	Aorta
11	chr8:103877800-103878600	Enhancers	Fetal Heart	heart
12	chr8:103877800-103878800	Enhancers	Fetal Intestine Large	intestine
13	chr8:103877800-103879000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:103877800-103879000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:103877800-103879200	Enhancers	Fetal Intestine Small	intestine
16	chr8:103877800-103886400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:103877800-103902000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:103877800-103906400	Weak transcription	HSMMtube	muscle
19	chr8:103878000-103878600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:103878000-103878600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:103878000-103878600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:103878000-103878600	Enhancers	Fetal Brain Female	brain
23	chr8:103878000-103878800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:103878000-103878800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:103878000-103878800	Enhancers	Esophagus	oesophagus
26	chr8:103878000-103878800	Enhancers	NHEK	skin
27	chr8:103878000-103879000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:103878000-103879000	Enhancers	Brain Anterior Caudate	brain
29	chr8:103878000-103879000	Enhancers	Brain Germinal Matrix	brain
30	chr8:103878000-103880400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:103878000-103880800	Weak transcription	Fetal Lung	lung
32	chr8:103878000-103881000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:103878000-103881000	Weak transcription	HMEC	breast
34	chr8:103878000-103881200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:103878000-103887200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:103878000-103906400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:103878000-103908800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:103878200-103878600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:103878200-103878800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:103878200-103878800	Enhancers	Fetal Muscle Trunk	muscle
41	chr8:103878200-103881000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:103878200-103881600	Weak transcription	A549	lung
43	chr8:103878200-103881600	Weak transcription	Hela-S3	cervix
44	chr8:103878200-103883600	Weak transcription	NHDF-Ad	bronchial
45	chr8:103878200-103883800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:103878200-103884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:103878200-103892800	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:103878200-103897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:103878200-103906600	Weak transcription	Ovary	ovary
50	chr8:103878400-103878600	Active TSS	GM12878-XiMat	blood

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