Variant report

Variant	rs12697906
Chromosome Location	chr5:79516006-79516007
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	chr5:79503625..79505476-chr5:79514776..79516793,2	MCF-7	breast:
2	chr5:79514935..79516719-chr5:79517338..79519015,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10036141	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10036779	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041410	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058560	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068511	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13170471	1.00[ASN][1000 genomes]
rs13178966	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180605	1.00[ASN][1000 genomes]
rs13186656	1.00[ASN][1000 genomes]
rs13187742	1.00[ASN][1000 genomes]
rs13354808	0.89[EUR][1000 genomes]
rs13355153	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200856	1.00[ASN][1000 genomes]
rs17201124	1.00[ASN][1000 genomes]
rs2405138	1.00[ASN][1000 genomes]
rs28637244	1.00[ASN][1000 genomes]
rs35696683	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521455	1.00[ASN][1000 genomes]
rs56040222	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867389	1.00[ASN][1000 genomes]
rs6867803	1.00[ASN][1000 genomes]
rs6876065	1.00[ASN][1000 genomes]
rs6888220	1.00[ASN][1000 genomes]
rs71636208	1.00[ASN][1000 genomes]
rs72778006	1.00[ASN][1000 genomes]
rs72778028	1.00[ASN][1000 genomes]
rs9293805	0.84[EUR][1000 genomes];1.00[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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79498600-79520800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:79498600-79521200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:79499000-79517800	Weak transcription	Aorta	Aorta
4	chr5:79500000-79537600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:79501600-79516800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:79502000-79516200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:79506400-79516400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:79507000-79516400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:79508600-79516200	Weak transcription	Colonic Mucosa	Colon
10	chr5:79509600-79525600	Weak transcription	Spleen	Spleen
11	chr5:79509800-79516600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:79509800-79535600	Weak transcription	Primary B cells from cord blood	blood
13	chr5:79510800-79517400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:79511000-79518200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:79511200-79517400	Enhancers	Brain Cingulate Gyrus	brain
16	chr5:79511800-79516200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:79512000-79534000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr5:79512400-79516200	Weak transcription	Small Intestine	intestine
19	chr5:79512400-79516400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:79513000-79516400	Enhancers	Colon Smooth Muscle	Colon
21	chr5:79513000-79516800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:79513000-79517000	Enhancers	Left Ventricle	heart
23	chr5:79513200-79516800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:79513200-79516800	Enhancers	Fetal Lung	lung
25	chr5:79513200-79517000	Enhancers	Stomach Mucosa	stomach
26	chr5:79513200-79518000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:79513400-79516400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:79513400-79516800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:79513400-79516800	Enhancers	Brain Substantia Nigra	brain
30	chr5:79513400-79519600	Weak transcription	HMEC	breast
31	chr5:79513600-79516400	Enhancers	Liver	Liver
32	chr5:79513600-79516800	Enhancers	Brain Angular Gyrus	brain
33	chr5:79513600-79517400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:79513600-79518200	Enhancers	Brain Hippocampus Middle	brain
35	chr5:79513600-79525400	Weak transcription	Adipose Nuclei	Adipose
36	chr5:79513800-79516400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:79513800-79517000	Enhancers	Brain Anterior Caudate	brain
38	chr5:79513800-79517000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr5:79513800-79517200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:79513800-79525200	Weak transcription	Osteobl	bone
41	chr5:79513800-79527800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr5:79514000-79516800	Enhancers	Fetal Brain Male	brain
43	chr5:79514000-79517400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr5:79514000-79524200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:79514200-79516200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr5:79514200-79516400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:79514200-79520000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:79514200-79525600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:79514600-79516800	Enhancers	Fetal Brain Female	brain
50	chr5:79514600-79516800	Enhancers	Right Ventricle	heart

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