Variant report

Variant	rs12064517
Chromosome Location	chr1:168461968-168461969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168461061..168463419-chr1:168464671..168466571,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237658	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10918889	1.00[EUR][1000 genomes]
rs10918890	1.00[EUR][1000 genomes]
rs10918891	1.00[EUR][1000 genomes]
rs10918892	1.00[EUR][1000 genomes]
rs10918893	1.00[EUR][1000 genomes]
rs10918895	1.00[EUR][1000 genomes]
rs10918896	1.00[EUR][1000 genomes]
rs10918913	1.00[EUR][1000 genomes]
rs10918914	1.00[EUR][1000 genomes]
rs10918915	1.00[EUR][1000 genomes]
rs10918916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10918918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10918929	1.00[EUR][1000 genomes]
rs12058640	1.00[EUR][1000 genomes]
rs12059095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059526	1.00[EUR][1000 genomes]
rs12059722	1.00[EUR][1000 genomes]
rs12060094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060180	1.00[EUR][1000 genomes]
rs12061311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12062599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12065600	1.00[EUR][1000 genomes]
rs12069600	1.00[EUR][1000 genomes]
rs12071398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12071533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12071580	1.00[EUR][1000 genomes]
rs12071946	1.00[EUR][1000 genomes]
rs12072708	1.00[EUR][1000 genomes]
rs12072756	1.00[EUR][1000 genomes]
rs12073928	1.00[EUR][1000 genomes]
rs12075383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078253	1.00[AMR][1000 genomes]
rs12080560	1.00[EUR][1000 genomes]
rs12086182	1.00[EUR][1000 genomes]
rs12087491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093899	1.00[EUR][1000 genomes]
rs12095242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095394	1.00[EUR][1000 genomes]
rs12096533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096552	1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs12563551	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1323524	1.00[EUR][1000 genomes]
rs16860744	1.00[EUR][1000 genomes]
rs16860745	1.00[EUR][1000 genomes]
rs16860750	1.00[EUR][1000 genomes]
rs16860759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2092400	1.00[EUR][1000 genomes]
rs28537856	1.00[AMR][1000 genomes]
rs58887669	1.00[EUR][1000 genomes]
rs60094342	1.00[EUR][1000 genomes]
rs6674956	1.00[EUR][1000 genomes]
rs73027529	1.00[EUR][1000 genomes]
rs73031504	1.00[EUR][1000 genomes]
rs73031508	1.00[EUR][1000 genomes]
rs74120912	1.00[EUR][1000 genomes]
rs74120961	1.00[EUR][1000 genomes]
rs74120963	1.00[EUR][1000 genomes]
rs74120965	1.00[EUR][1000 genomes]
rs74123943	1.00[EUR][1000 genomes]
rs74123944	1.00[EUR][1000 genomes]
rs7526174	1.00[EUR][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	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1008852	chr1:168449940-168643905	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv535198	chr1:168449940-168643905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168454600-168475200	Weak transcription	Small Intestine	intestine
2	chr1:168455000-168466800	Weak transcription	Ovary	ovary
3	chr1:168455000-168466800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:168457600-168467200	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:168457800-168468600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:168458600-168463600	Enhancers	Colon Smooth Muscle	Colon
7	chr1:168459400-168462200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:168459800-168464200	Enhancers	HepG2	liver
9	chr1:168460200-168462000	Enhancers	Fetal Intestine Large	intestine
10	chr1:168460400-168462000	Enhancers	Stomach Smooth Muscle	stomach
11	chr1:168461000-168463400	Enhancers	Liver	Liver
12	chr1:168461200-168466800	Weak transcription	Stomach Mucosa	stomach
13	chr1:168461400-168462400	Weak transcription	NHDF-Ad	bronchial
14	chr1:168461400-168464000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:168461400-168466600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:168461400-168466800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:168461400-168466800	Weak transcription	Fetal Stomach	stomach
18	chr1:168461400-168467000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:168461600-168464400	Weak transcription	Fetal Intestine Small	intestine
20	chr1:168461600-168464600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:168461600-168466400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:168461600-168466600	Weak transcription	Fetal Lung	lung

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