Variant report

Variant	rs55954804
Chromosome Location	chr1:211756863-211756864
allele	C/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	RCOR1	chr1:211756345-211757449	K562	blood:	n/a	n/a
2	SPI1	chr1:211756648-211757153	HL-60	blood:	n/a	n/a
3	RCOR1	chr1:211756416-211757180	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211432764..211434575-chr1:211756364..211758782,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC30A1-1	chr1:211756357-211757067	ENSG00000261314.1

Variant related genes	Relation type
SLC30A1	TF binding region
ENSG00000117625	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11119774	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12143491	0.94[ASN][1000 genomes]
rs2099949	0.84[ASN][1000 genomes]
rs34414069	0.84[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211753200-211757000	Weak transcription	Spleen	Spleen
2	chr1:211753400-211757000	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:211753400-211757000	Enhancers	Adipose Nuclei	Adipose
4	chr1:211753400-211757000	Weak transcription	Right Atrium	heart
5	chr1:211753400-211757600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:211753600-211757200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:211753800-211757200	Enhancers	Fetal Intestine Large	intestine
8	chr1:211753800-211757400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:211753800-211757400	Enhancers	Fetal Intestine Small	intestine
10	chr1:211753800-211758000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:211754000-211765400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:211755000-211757000	Enhancers	Primary B cells from cord blood	blood
13	chr1:211755000-211757800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:211755600-211758000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:211755600-211762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:211755800-211757600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:211756000-211757200	Enhancers	Duodenum Mucosa	Duodenum
18	chr1:211756200-211760200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:211756400-211758200	Enhancers	K562	blood
20	chr1:211756600-211757000	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr1:211756600-211757200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr1:211756600-211758600	Enhancers	Placenta	Placenta
23	chr1:211756600-211763000	Weak transcription	NHDF-Ad	bronchial
24	chr1:211756800-211757000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:211756800-211757000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:211756800-211757000	Enhancers	Aorta	Aorta
27	chr1:211756800-211757400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:211756800-211757600	Flanking Active TSS	HepG2	liver
29	chr1:211756800-211757800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:211756800-211758400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:211756800-211759800	Weak transcription	GM12878-XiMat	blood
32	chr1:211756800-211762200	Weak transcription	Osteobl	bone

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