Variant report

Variant	rs699567
Chromosome Location	chr12:63262285-63262286
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63255458..63258217-chr12:63260848..63263139,2	MCF-7	breast:
2	chr12:63260158..63264907-chr12:63265796..63270388,6	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11174704	0.92[CEU][hapmap]
rs2594711	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs479356	0.89[CEU][hapmap];0.85[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs481867	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs482794	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs540694	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs572873	0.89[CEU][hapmap];0.90[CHB][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs575657	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs599969	0.93[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs629499	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688624	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs699568	0.85[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs771973	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63255000-63262400	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr12:63257800-63262600	Enhancers	Brain Substantia Nigra	brain
3	chr12:63258200-63277200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:63258400-63262400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:63258800-63264400	Enhancers	HepG2	liver
6	chr12:63259800-63262400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:63259800-63263400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr12:63260200-63275400	Weak transcription	Pancreas	Pancrea
9	chr12:63260600-63262600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:63260600-63270600	Weak transcription	Aorta	Aorta
11	chr12:63260800-63267000	Weak transcription	Placenta	Placenta
12	chr12:63260800-63270000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:63260800-63275200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:63261000-63264800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:63261200-63265800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:63261200-63275000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:63261200-63277800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:63261400-63262600	Enhancers	A549	lung
19	chr12:63261400-63262800	Enhancers	Left Ventricle	heart
20	chr12:63261400-63266800	Weak transcription	Fetal Intestine Small	intestine
21	chr12:63261600-63262800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:63261600-63262800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:63261800-63263800	Weak transcription	Brain Anterior Caudate	brain
24	chr12:63261800-63264800	Weak transcription	NH-A	brain
25	chr12:63261800-63267000	Weak transcription	Fetal Intestine Large	intestine
26	chr12:63262000-63262400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:63262000-63262600	Enhancers	Brain Angular Gyrus	brain
28	chr12:63262000-63262800	Enhancers	Ovary	ovary
29	chr12:63262000-63263000	Weak transcription	Gastric	stomach
30	chr12:63262000-63263200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:63262000-63269600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:63262200-63266800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:63262200-63267200	Weak transcription	K562	blood

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