Variant report

Variant	rs6713934
Chromosome Location	chr2:47407024-47407025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47406207..47408675-chr2:47468954..47471024,2	MCF-7	breast:
2	chr2:47405558..47407711-chr2:47452457..47454896,2	K562	blood:
3	chr2:47406999..47409780-chr2:47499066..47501901,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226087	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11125126	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1404770	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1630239	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693863	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693864	0.94[ASN][1000 genomes]
rs1693882	0.84[ASN][1000 genomes]
rs1723482	0.88[ASN][1000 genomes]
rs1723484	0.82[ASN][1000 genomes]
rs1995108	0.97[ASN][1000 genomes]
rs2036162	0.81[AFR][1000 genomes]
rs2454082	0.87[ASN][1000 genomes]
rs2454083	0.87[ASN][1000 genomes]
rs2462588	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2462589	0.97[ASN][1000 genomes]
rs6751198	0.96[ASN][1000 genomes]
rs7581908	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7606478	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs815802	0.88[ASN][1000 genomes]
rs815809	0.86[AMR][1000 genomes]
rs815815	0.88[ASN][1000 genomes]
rs815816	0.81[ASN][1000 genomes]
rs815817	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs878665	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47404200-47410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:47404400-47418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:47404600-47407600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:47404600-47416400	Weak transcription	HSMMtube	muscle
5	chr2:47404600-47417200	Weak transcription	Placenta	Placenta
6	chr2:47404800-47407400	Enhancers	Primary B cells from cord blood	blood
7	chr2:47404800-47411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:47404800-47411000	Weak transcription	NH-A	brain
9	chr2:47404800-47416400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:47405000-47407800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:47405000-47408000	Weak transcription	NHDF-Ad	bronchial
12	chr2:47405200-47411200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:47405400-47416400	Weak transcription	Fetal Intestine Large	intestine
14	chr2:47405600-47408200	Weak transcription	Brain Anterior Caudate	brain
15	chr2:47406000-47407600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:47406200-47408000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:47406400-47407600	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:47406800-47407400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:47406800-47407400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:47406800-47407600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:47406800-47408200	Weak transcription	GM12878-XiMat	blood
22	chr2:47406800-47408400	Weak transcription	Stomach Mucosa	stomach
23	chr2:47406800-47408600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:47406800-47409600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:47406800-47411800	Weak transcription	NHEK	skin
26	chr2:47406800-47412000	Weak transcription	K562	blood
27	chr2:47406800-47412400	Weak transcription	A549	lung
28	chr2:47406800-47413600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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