Variant report

Variant	rs12059526
Chromosome Location	chr1:168584392-168584393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168578094..168580109-chr1:168583246..168584781,2	MCF-7	breast:
2	chr1:168581005..168585342-chr1:168586418..168588531,4	MCF-7	breast:
3	chr1:168582595..168585268-chr1:168586137..168589627,3	K562	blood:
4	chr1:168582928..168585268-chr1:168586137..168588678,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

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[EUR][1000 genomes]
rs10918918	1.00[EUR][1000 genomes]
rs10918929	1.00[EUR][1000 genomes]
rs12058640	1.00[EUR][1000 genomes]
rs12058739	1.00[AFR][1000 genomes]
rs12059095	1.00[EUR][1000 genomes]
rs12059722	1.00[EUR][1000 genomes]
rs12060094	1.00[EUR][1000 genomes]
rs12060180	1.00[EUR][1000 genomes]
rs12061311	1.00[EUR][1000 genomes]
rs12061688	1.00[EUR][1000 genomes]
rs12062599	1.00[EUR][1000 genomes]
rs12063309	1.00[AFR][1000 genomes]
rs12064517	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12064716	1.00[EUR][1000 genomes]
rs12065600	1.00[EUR][1000 genomes]
rs12069600	1.00[EUR][1000 genomes]
rs12071398	1.00[EUR][1000 genomes]
rs12071533	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]
rs12073060	1.00[MEX][hapmap]
rs12073928	1.00[EUR][1000 genomes]
rs12075383	1.00[EUR][1000 genomes]
rs12076618	1.00[EUR][1000 genomes]
rs12080560	1.00[EUR][1000 genomes]
rs12086182	1.00[EUR][1000 genomes]
rs12087491	1.00[EUR][1000 genomes]
rs12088031	1.00[EUR][1000 genomes]
rs12088109	1.00[EUR][1000 genomes]
rs12093369	1.00[EUR][1000 genomes]
rs12093899	1.00[EUR][1000 genomes]
rs12095242	1.00[EUR][1000 genomes]
rs12095394	1.00[EUR][1000 genomes]
rs12096533	1.00[EUR][1000 genomes]
rs12096552	1.00[TSI][hapmap]
rs12563551	1.00[TSI][hapmap];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[EUR][1000 genomes]
rs2092400	1.00[EUR][1000 genomes]
rs58887669	1.00[EUR][1000 genomes]
rs6674956	1.00[EUR][1000 genomes]
rs73027529	1.00[EUR][1000 genomes]
rs73031504	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73031508	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];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]
rs7526174	1.00[EUR][1000 genomes]
rs7548427	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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
8	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
9	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
10	nsv3443	chr1:168577582-168622305	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168579000-168590200	Weak transcription	Right Atrium	heart
2	chr1:168581000-168584800	Enhancers	Psoas Muscle	Psoas
3	chr1:168581800-168584400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:168582000-168585200	Enhancers	Fetal Muscle Leg	muscle
5	chr1:168582200-168584400	Enhancers	Colon Smooth Muscle	Colon
6	chr1:168582200-168584400	Enhancers	Fetal Muscle Trunk	muscle
7	chr1:168582200-168584400	Enhancers	Left Ventricle	heart
8	chr1:168582200-168584600	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:168582200-168584800	Enhancers	Ovary	ovary
10	chr1:168582400-168584400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:168582400-168584400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr1:168582400-168584600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:168582400-168584600	Enhancers	Adipose Nuclei	Adipose
14	chr1:168582600-168584600	Enhancers	Right Ventricle	heart
15	chr1:168583400-168584600	Enhancers	Fetal Heart	heart
16	chr1:168583400-168587200	Weak transcription	Brain Substantia Nigra	brain
17	chr1:168583400-168589800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:168583600-168584400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:168583600-168584400	Enhancers	Pancreas	Pancrea
20	chr1:168583600-168588200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:168583600-168588400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:168583800-168584600	Enhancers	Stomach Smooth Muscle	stomach
23	chr1:168583800-168584800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:168583800-168587200	Weak transcription	Brain Anterior Caudate	brain
25	chr1:168583800-168587200	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:168583800-168588400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:168583800-168590800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:168583800-168590800	Weak transcription	Fetal Intestine Small	intestine
29	chr1:168583800-168592200	Weak transcription	Aorta	Aorta
30	chr1:168584000-168584400	Enhancers	Lung	lung
31	chr1:168584000-168584600	Enhancers	Esophagus	oesophagus
32	chr1:168584000-168584800	Enhancers	Stomach Mucosa	stomach
33	chr1:168584200-168584400	Bivalent Enhancer	HepG2	liver
34	chr1:168584200-168584600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr1:168584200-168587000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:168584200-168587200	Weak transcription	Brain Inferior Temporal Lobe	brain

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