Variant report

Variant	rs7546852
Chromosome Location	chr1:211754866-211754867
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	POLR2A	chr1:211754815-211755118	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr1:211754842-211755301	MCF10A-Er-Src	breast:	n/a	chr1:211755065-211755074
3	PBX3	chr1:211754805-211755283	SK-N-SH	brain:	n/a	n/a
4	MEF2A	chr1:211754777-211755477	SK-N-SH	brain:	n/a	n/a
5	STAT3	chr1:211754842-211755179	MCF10A-Er-Src	breast:	n/a	chr1:211754941-211754949
6	MEF2A	chr1:211754760-211755501	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr1:211754840-211755040	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr1:211754791-211755264	IMR90	lung:	n/a	chr1:211754812-211754824

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211750915..211755112-chr1:211826013..211829699,5	K562	blood:
2	chr1:211752607..211756285-chr1:211771490..211773503,3	K562	blood:

Variant related genes	Relation type
SLC30A1	TF binding region
ENSG00000222080	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9430071	0.90[LWK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	esv1791933	chr1:211751208-211755204	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv1793880	chr1:211751208-211755204	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	esv1799275	chr1:211751816-211754866	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7546852	CD34	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211753200-211755600	Enhancers	Small Intestine	intestine
2	chr1:211753200-211757000	Weak transcription	Spleen	Spleen
3	chr1:211753400-211755200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:211753400-211755200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:211753400-211755400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:211753400-211755600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:211753400-211755800	Enhancers	NH-A	brain
8	chr1:211753400-211756800	Weak transcription	Aorta	Aorta
9	chr1:211753400-211757000	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:211753400-211757000	Enhancers	Adipose Nuclei	Adipose
11	chr1:211753400-211757000	Weak transcription	Right Atrium	heart
12	chr1:211753400-211757600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:211753600-211755000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:211753600-211755000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:211753600-211755400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:211753600-211755600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:211753600-211755600	Enhancers	NHLF	lung
18	chr1:211753600-211756000	Enhancers	Colon Smooth Muscle	Colon
19	chr1:211753600-211756400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:211753600-211756800	Enhancers	Osteobl	bone
21	chr1:211753600-211757200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:211753800-211755000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:211753800-211755000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:211753800-211755000	Weak transcription	Primary B cells from cord blood	blood
25	chr1:211753800-211755000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:211753800-211755000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:211753800-211755000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:211753800-211755000	Weak transcription	HSMMtube	muscle
29	chr1:211753800-211755000	Enhancers	K562	blood
30	chr1:211753800-211755200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:211753800-211755200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:211753800-211755200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:211753800-211755200	Weak transcription	Stomach Mucosa	stomach
34	chr1:211753800-211755400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:211753800-211755600	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:211753800-211755600	Enhancers	Rectal Smooth Muscle	rectum
37	chr1:211753800-211755600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:211753800-211756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:211753800-211757200	Enhancers	Fetal Intestine Large	intestine
40	chr1:211753800-211757400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:211753800-211757400	Enhancers	Fetal Intestine Small	intestine
42	chr1:211753800-211758000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:211754000-211755000	Weak transcription	Colonic Mucosa	Colon
44	chr1:211754000-211755000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:211754000-211755200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:211754000-211755400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:211754000-211756600	Weak transcription	Placenta	Placenta
48	chr1:211754000-211756800	Enhancers	HepG2	liver
49	chr1:211754000-211765400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:211754200-211755000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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