Variant report

Variant	rs12307363
Chromosome Location	chr12:67836817-67836818
allele	A/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	GATA2	chr12:67835436-67836916	SH-SY5Y	brain:	n/a	chr12:67835668-67835678 chr12:67836540-67836561 chr12:67835557-67835578 chr12:67835559-67835575
2	RFX5	chr12:67834712-67837907	SK-N-SH	brain:	n/a	chr12:67835776-67835791 chr12:67836334-67836342
3	RAD21	chr12:67835136-67837011	SK-N-SH	brain:	n/a	chr12:67835739-67835758 chr12:67835745-67835754 chr12:67836697-67836707 chr12:67836258-67836270
4	CHD2	chr12:67836693-67837020	K562	blood:	n/a	n/a
5	CHD2	chr12:67836741-67836965	HepG2	liver:	n/a	n/a
6	GATA3	chr12:67836279-67837102	SH-SY5Y	brain:	n/a	chr12:67836540-67836561
7	CTCF	chr12:67835358-67836945	SK-N-SH	brain:	n/a	chr12:67835743-67835756 chr12:67835743-67835756 chr12:67835742-67835758 chr12:67835736-67835757 chr12:67835741-67835759

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIP1-4	chr12:67836568-67836838	XLOC_010112
2	lnc-GRIP1-4	chr12:67836567-67836838	NONHSAT029254

Variant related genes	Relation type
ENSG00000256172	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10128823	1.00[EUR][1000 genomes]
rs10129028	1.00[EUR][1000 genomes]
rs11176672	1.00[EUR][1000 genomes]
rs11176676	1.00[EUR][1000 genomes]
rs11176679	1.00[EUR][1000 genomes]
rs11176684	1.00[EUR][1000 genomes]
rs11176691	1.00[EUR][1000 genomes]
rs11176692	1.00[EUR][1000 genomes]
rs11176693	1.00[EUR][1000 genomes]
rs11176694	1.00[EUR][1000 genomes]
rs11176715	1.00[EUR][1000 genomes]
rs11176740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176784	1.00[EUR][1000 genomes]
rs11503726	1.00[EUR][1000 genomes]
rs12297966	1.00[EUR][1000 genomes]
rs12299042	1.00[EUR][1000 genomes]
rs12299097	1.00[EUR][1000 genomes]
rs12300582	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12303089	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12306375	1.00[EUR][1000 genomes]
rs12307464	1.00[EUR][1000 genomes]
rs12311491	1.00[EUR][1000 genomes]
rs12311797	1.00[EUR][1000 genomes]
rs12311840	1.00[EUR][1000 genomes]
rs12311845	1.00[EUR][1000 genomes]
rs12312040	1.00[EUR][1000 genomes]
rs12313282	1.00[EUR][1000 genomes]
rs12314503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315624	1.00[EUR][1000 genomes]
rs12318518	1.00[EUR][1000 genomes]
rs12318591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318995	1.00[EUR][1000 genomes]
rs12320566	1.00[EUR][1000 genomes]
rs12321292	1.00[EUR][1000 genomes]
rs12321396	1.00[EUR][1000 genomes]
rs12322901	1.00[EUR][1000 genomes]
rs17103652	1.00[EUR][1000 genomes]
rs17103772	1.00[EUR][1000 genomes]
rs17120707	1.00[EUR][1000 genomes]
rs17120710	1.00[EUR][1000 genomes]
rs4083304	1.00[EUR][1000 genomes]
rs57886620	1.00[EUR][1000 genomes]
rs61504642	1.00[EUR][1000 genomes]
rs6581751	1.00[EUR][1000 genomes]
rs7135195	1.00[EUR][1000 genomes]
rs7138362	1.00[EUR][1000 genomes]
rs7294827	1.00[EUR][1000 genomes]
rs7306853	1.00[EUR][1000 genomes]
rs7307643	1.00[EUR][1000 genomes]
rs7312079	1.00[EUR][1000 genomes]
rs73320752	1.00[EUR][1000 genomes]
rs73322616	1.00[EUR][1000 genomes]
rs73326445	1.00[EUR][1000 genomes]
rs73326448	1.00[EUR][1000 genomes]
rs73326466	1.00[EUR][1000 genomes]
rs7954999	1.00[EUR][1000 genomes]
rs7964763	1.00[EUR][1000 genomes]
rs7966031	1.00[EUR][1000 genomes]
rs7977574	1.00[EUR][1000 genomes]
rs9989007	1.00[EUR][1000 genomes]
rs9989023	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67835000-67837000	Enhancers	Fetal Heart	heart
2	chr12:67835200-67837000	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr12:67835200-67837200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:67835400-67837000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:67835400-67837000	Enhancers	Brain Germinal Matrix	brain
6	chr12:67835400-67837000	Enhancers	Fetal Lung	lung
7	chr12:67835600-67837000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:67835600-67837000	Enhancers	Fetal Muscle Trunk	muscle
9	chr12:67835600-67837000	Enhancers	Right Ventricle	heart
10	chr12:67835600-67849000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:67835800-67837200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:67836000-67837200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:67836000-67840800	Weak transcription	Primary T cells from cord blood	blood
14	chr12:67836200-67837000	Enhancers	Aorta	Aorta
15	chr12:67836200-67837000	Enhancers	Fetal Brain Female	brain
16	chr12:67836200-67837400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:67836400-67837000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr12:67836400-67840000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:67836400-67842400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:67836400-67842600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:67836600-67837000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:67836600-67837000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:67836600-67837800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:67836800-67837600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr12:67836800-67840000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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