Variant report

Variant	rs12302744
Chromosome Location	chr12:116985731-116985732
allele	G/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	chr12:116985620-116986670	GM12892	blood:	n/a	n/a
2	EP300	chr12:116985720-116986082	K562	blood:	n/a	chr12:116985752-116985766 chr12:116985740-116985754 chr12:116985742-116985756
3	RCOR1	chr12:116985726-116986110	K562	blood:	n/a	n/a
4	MAX	chr12:116985311-116986027	K562	blood:	n/a	n/a
5	RUNX3	chr12:116985661-116986372	GM12878	blood:	n/a	n/a
6	BHLHE40	chr12:116985492-116986143	K562	blood:	n/a	n/a
7	NFIC	chr12:116985581-116986289	GM12878	blood:	n/a	n/a
8	TEAD4	chr12:116985591-116986242	K562	blood:	n/a	n/a
9	POLR2A	chr12:116985709-116986249	GM12892	blood:	n/a	n/a
10	ZNF384	chr12:116985671-116985822	GM12878	blood:	n/a	n/a
11	SPI1	chr12:116985611-116986166	HL-60	blood:	n/a	chr12:116985859-116985872
12	PML	chr12:116985669-116986292	GM12878	blood:	n/a	n/a
13	IKZF1	chr12:116985594-116986298	GM12878	blood:	n/a	n/a
14	MAX	chr12:116985683-116986477	NB4	blood:	n/a	n/a
15	MAZ	chr12:116985432-116986083	K562	blood:	n/a	n/a
16	POLR2A	chr12:116985716-116986252	HL-60	blood:	n/a	n/a
17	MAFK	chr12:116985657-116986035	K562	blood:	n/a	n/a
18	PAX5	chr12:116985642-116986193	GM12878	blood:	n/a	n/a
19	JUND	chr12:116985434-116986113	K562	blood:	n/a	n/a
20	RUNX3	chr12:116985697-116986232	GM12878	blood:	n/a	n/a
21	FOXM1	chr12:116985646-116986234	GM12878	blood:	n/a	n/a
22	MYC	chr12:116985596-116986320	NB4	blood:	n/a	n/a
23	EP300	chr12:116985701-116986210	GM12878	blood:	n/a	chr12:116985752-116985766 chr12:116985740-116985754 chr12:116985742-116985756
24	ZNF384	chr12:116985550-116985973	K562	blood:	n/a	n/a
25	MXI1	chr12:116985702-116985755	GM12878	blood:	n/a	n/a
26	NFATC1	chr12:116985654-116986196	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:116985583-116986285	HL-60	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP1LC3B2-1	chr12:116985551-116986093	XLOC_009898

Variant related genes	Relation type
ENSG00000258102	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11068066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12298771	1.00[AFR][1000 genomes]
rs12303400	1.00[AFR][1000 genomes]
rs12306087	1.00[AFR][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	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv3451036	chr12:116983919-116985817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116973000-116986000	Weak transcription	Aorta	Aorta
2	chr12:116978000-116985800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:116978200-116985800	Weak transcription	Psoas Muscle	Psoas
4	chr12:116978200-116989400	Weak transcription	Esophagus	oesophagus
5	chr12:116978400-116985800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:116980800-116985800	Weak transcription	Right Ventricle	heart
7	chr12:116980800-116985800	Weak transcription	NH-A	brain
8	chr12:116981000-116985800	Weak transcription	Fetal Kidney	kidney
9	chr12:116981600-116986000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:116982000-116986000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:116982400-116986000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:116982800-116985800	Weak transcription	Fetal Lung	lung
13	chr12:116983200-116986800	Enhancers	K562	blood
14	chr12:116983400-116985800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:116983600-116985800	Weak transcription	Ovary	ovary
16	chr12:116983600-116986000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:116983800-116986200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:116984200-116986200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:116984200-116996800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:116984200-116997000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:116984400-116985800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:116984800-116985800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr12:116984800-116986800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:116984800-116986800	Enhancers	Fetal Muscle Leg	muscle
25	chr12:116985000-116986000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr12:116985000-116986000	Enhancers	Primary B cells from cord blood	blood
27	chr12:116985000-116986000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr12:116985000-116986800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr12:116985000-116987000	Enhancers	Primary B cells from peripheral blood	blood
30	chr12:116985200-116985800	Enhancers	GM12878-XiMat	blood
31	chr12:116985200-116986000	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:116985200-116986000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr12:116985200-116986400	Enhancers	Fetal Muscle Trunk	muscle
34	chr12:116985200-116986600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:116985200-116986600	Enhancers	Fetal Brain Male	brain
36	chr12:116985400-116985800	Weak transcription	Colonic Mucosa	Colon
37	chr12:116985400-116986000	Enhancers	Fetal Heart	heart
38	chr12:116985400-116986400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:116985400-116986400	Enhancers	Placenta	Placenta
40	chr12:116985400-116986600	Enhancers	Colon Smooth Muscle	Colon
41	chr12:116985400-116986800	Enhancers	Fetal Thymus	thymus
42	chr12:116985400-116986800	Enhancers	Spleen	Spleen
43	chr12:116985600-116985800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:116985600-116985800	Enhancers	Fetal Intestine Large	intestine
45	chr12:116985600-116986000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:116985600-116986200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr12:116985600-116986400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:116985600-116986400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr12:116985600-116986600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr12:116985600-116986600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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