Variant report

Variant	rs2794584
Chromosome Location	chr1:179838064-179838065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179832603..179840385-chr1:179843229..179848672,10	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TOR1AIP1-1	chr1:179836662-179838333	ENSG00000245778
2	lnc-AL359853.2-1	chr1:179836662-179838331	NONHSAT008223

Variant related genes	Relation type
ENSG00000169905	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1148813	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1148814	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1148816	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1148818	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1281409	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1281414	0.89[ASN][1000 genomes]
rs1281415	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1281419	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1281424	0.96[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1281425	0.83[ASN][1000 genomes]
rs1281431	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1295972	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1299683	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1299685	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17370666	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1758143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2762857	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2777907	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2777916	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs476280	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs524166	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs555755	0.94[EUR][1000 genomes]
rs576723	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs627897	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs651455	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668813	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683812	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005808	chr1:179783922-179864710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005051	chr1:179785643-179861950	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats 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	48 gene(s)	inside rSNPs	diseases
6	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv519273	chr1:179831248-179847877	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179808600-179839800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:179812600-179842600	Weak transcription	Stomach Mucosa	stomach
3	chr1:179813200-179839200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:179814400-179839200	Strong transcription	HSMM	muscle
5	chr1:179815000-179839400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:179820400-179841400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:179820400-179841800	Weak transcription	Small Intestine	intestine
8	chr1:179820400-179844200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:179820400-179845400	Weak transcription	Right Ventricle	heart
10	chr1:179823000-179839200	Strong transcription	Osteobl	bone
11	chr1:179823800-179839200	Strong transcription	Duodenum Mucosa	Duodenum
12	chr1:179823800-179843200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:179824200-179839800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:179824600-179838400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:179825000-179838200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr1:179825600-179839000	Strong transcription	Fetal Intestine Large	intestine
17	chr1:179825800-179839200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:179826200-179843400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:179828000-179845600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:179829200-179838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:179829400-179839000	Strong transcription	Dnd41	blood
22	chr1:179829600-179839200	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr1:179829600-179839400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:179829800-179840400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:179829800-179844800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:179830000-179839000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:179830000-179839200	Strong transcription	Hela-S3	cervix
28	chr1:179830200-179845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:179830600-179839200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:179830800-179838800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr1:179830800-179839200	Strong transcription	HUVEC	blood vessel
32	chr1:179830800-179840400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:179830800-179842200	Strong transcription	K562	blood
34	chr1:179831000-179839200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:179831200-179839200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:179831200-179845000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:179831600-179838400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:179832200-179838200	Strong transcription	Primary T cells from cord blood	blood
39	chr1:179832200-179838200	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr1:179832400-179844000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:179832400-179844200	Strong transcription	Fetal Thymus	thymus
42	chr1:179832600-179838200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:179832600-179839000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:179832600-179839000	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:179832800-179838200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:179832800-179840400	Strong transcription	HMEC	breast
47	chr1:179833200-179839000	Strong transcription	Fetal Brain Female	brain
48	chr1:179833200-179841800	Strong transcription	NH-A	brain
49	chr1:179833400-179838200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:179833800-179838400	Strong transcription	Fetal Stomach	stomach

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