Variant report

Variant	rs12059947
Chromosome Location	chr1:168660008-168660009
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	chr1:168658040..168660028-chr1:169075019..169076893,2	MCF-7	breast:
2	chr1:168408540..168410593-chr1:168659202..168660877,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12059994	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727174	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744295	0.87[ASN][1000 genomes]
rs34567405	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35581113	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35973971	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6659694	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684340	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66951628	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67955094	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68126196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1001684	chr1:168636622-168663398	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv525556	chr1:168653857-168662352	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168656200-168660800	Enhancers	Colon Smooth Muscle	Colon
2	chr1:168657000-168661000	Enhancers	Rectal Smooth Muscle	rectum
3	chr1:168657200-168660600	Enhancers	Fetal Heart	heart
4	chr1:168657800-168660400	Enhancers	Fetal Intestine Small	intestine
5	chr1:168658000-168660600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:168658000-168662000	Enhancers	Pancreas	Pancrea
7	chr1:168658200-168662000	Weak transcription	Fetal Kidney	kidney
8	chr1:168658200-168662400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:168658200-168662800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:168658200-168663200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:168658400-168661000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:168659000-168660200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:168659200-168660200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:168659400-168662800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:168659400-168662800	Weak transcription	Stomach Mucosa	stomach
16	chr1:168659400-168669400	Weak transcription	Small Intestine	intestine
17	chr1:168659600-168660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:168659600-168663800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:168659600-168663800	Weak transcription	Gastric	stomach
20	chr1:168659600-168664800	Weak transcription	Right Ventricle	heart
21	chr1:168659800-168663200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:168660000-168660800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr1:168660000-168662000	Weak transcription	Fetal Intestine Large	intestine
24	chr1:168660000-168662400	Weak transcription	HSMM	muscle
25	chr1:168660000-168663000	Weak transcription	Fetal Stomach	stomach
26	chr1:168660000-168665800	Enhancers	HepG2	liver

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