Variant report

Variant	rs12030590
Chromosome Location	chr1:211755648-211755649
allele	C/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	TBP	chr1:211755332-211755750	GM12878	blood:	n/a	n/a
2	MEF2A	chr1:211755259-211755819	GM12878	blood:	n/a	n/a
3	EP300	chr1:211755411-211755808	GM12878	blood:	n/a	chr1:211755459-211755473
4	EBF1	chr1:211755457-211755819	GM12878	blood:	n/a	n/a
5	RCOR1	chr1:211755356-211755768	GM12878	blood:	n/a	n/a
6	WRNIP1	chr1:211755543-211755752	GM12878	blood:	n/a	n/a
7	NFIC	chr1:211755421-211755798	GM12878	blood:	n/a	n/a
8	CHD2	chr1:211755439-211755776	GM12878	blood:	n/a	n/a
9	RUNX3	chr1:211755358-211755819	GM12878	blood:	n/a	n/a
10	MEF2C	chr1:211755354-211755768	GM12878	blood:	n/a	chr1:211755572-211755587
11	SPI1	chr1:211755446-211755783	HL-60	blood:	n/a	chr1:211755524-211755537 chr1:211755662-211755675
12	FOXM1	chr1:211755369-211755845	GM12878	blood:	n/a	n/a
13	TBL1XR1	chr1:211755086-211755782	GM12878	blood:	n/a	n/a
14	SPI1	chr1:211755483-211755811	GM12891	blood:	n/a	chr1:211755524-211755537 chr1:211755662-211755675
15	BCLAF1	chr1:211755386-211755796	GM12878	blood:	n/a	n/a
16	SPI1	chr1:211755542-211755741	GM12878	blood:	n/a	chr1:211755662-211755675
17	ELF1	chr1:211755422-211755868	GM12878	blood:	n/a	n/a
18	SPI1	chr1:211755458-211755793	GM12891	blood:	n/a	chr1:211755524-211755537 chr1:211755662-211755675
19	MEF2A	chr1:211755293-211755828	GM12878	blood:	n/a	n/a
20	NFIC	chr1:211755361-211755898	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:211755415-211755719	MCF10A-Er-Src	breast:	n/a	n/a
22	RUNX3	chr1:211755381-211755851	GM12878	blood:	n/a	n/a
23	SPI1	chr1:211755430-211755773	GM12878	blood:	n/a	chr1:211755524-211755537 chr1:211755662-211755675
24	EP300	chr1:211755411-211755766	GM12878	blood:	n/a	chr1:211755459-211755473
25	MTA3	chr1:211755298-211755881	GM12878	blood:	n/a	n/a
26	CUX1	chr1:211755194-211755679	GM12878	blood:	n/a	n/a
27	ATF2	chr1:211755330-211755873	GM12878	blood:	n/a	n/a
28	MAZ	chr1:211755268-211755751	GM12878	blood:	n/a	n/a
29	BHLHE40	chr1:211755372-211755786	GM12878	blood:	n/a	n/a
30	SP1	chr1:211755390-211755777	GM12878	blood:	n/a	n/a
31	MAX	chr1:211755353-211755757	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211752607..211756285-chr1:211771490..211773503,3	K562	blood:

Variant related genes	Relation type
SLC30A1	TF binding region

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12026206	0.83[JPT][hapmap]
rs12030478	0.87[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211753200-211757000	Weak transcription	Spleen	Spleen
2	chr1:211753400-211755800	Enhancers	NH-A	brain
3	chr1:211753400-211756800	Weak transcription	Aorta	Aorta
4	chr1:211753400-211757000	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:211753400-211757000	Enhancers	Adipose Nuclei	Adipose
6	chr1:211753400-211757000	Weak transcription	Right Atrium	heart
7	chr1:211753400-211757600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:211753600-211756000	Enhancers	Colon Smooth Muscle	Colon
9	chr1:211753600-211756400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:211753600-211756800	Enhancers	Osteobl	bone
11	chr1:211753600-211757200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:211753800-211756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:211753800-211757200	Enhancers	Fetal Intestine Large	intestine
14	chr1:211753800-211757400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:211753800-211757400	Enhancers	Fetal Intestine Small	intestine
16	chr1:211753800-211758000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:211754000-211756600	Weak transcription	Placenta	Placenta
18	chr1:211754000-211756800	Enhancers	HepG2	liver
19	chr1:211754000-211765400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:211754600-211756000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:211754600-211756200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr1:211754800-211755800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:211754800-211756600	Enhancers	NHDF-Ad	bronchial
24	chr1:211754800-211756800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:211755000-211756000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:211755000-211756200	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:211755000-211756400	Weak transcription	K562	blood
28	chr1:211755000-211756600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr1:211755000-211757000	Enhancers	Primary B cells from cord blood	blood
30	chr1:211755000-211757800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:211755200-211755800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:211755200-211755800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:211755200-211756800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:211755400-211755800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:211755400-211756600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr1:211755400-211756800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:211755600-211755800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:211755600-211755800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:211755600-211755800	Enhancers	Stomach Smooth Muscle	stomach
40	chr1:211755600-211756000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:211755600-211756400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:211755600-211756600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:211755600-211756800	Enhancers	GM12878-XiMat	blood
44	chr1:211755600-211758000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:211755600-211762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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