Variant report

Variant	rs56728872
Chromosome Location	chr12:67673379-67673380
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	chr12:67671859..67674650-chr12:67694307..67697083,2	MCF-7	breast:
2	chr12:67672008..67673697-chr12:67685020..67687108,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10878598	0.95[ASN][1000 genomes]
rs11176668	0.96[ASN][1000 genomes]
rs11176669	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176670	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176673	1.00[ASN][1000 genomes]
rs11176686	0.95[ASN][1000 genomes]
rs11176689	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176703	0.95[ASN][1000 genomes]
rs11176704	0.95[ASN][1000 genomes]
rs11176705	0.95[ASN][1000 genomes]
rs11176707	0.95[ASN][1000 genomes]
rs11176711	0.91[ASN][1000 genomes]
rs12302564	0.95[ASN][1000 genomes]
rs12305377	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12306657	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12311150	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12314146	0.95[ASN][1000 genomes]
rs3087577	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3736630	1.00[ASN][1000 genomes]
rs55646172	1.00[ASN][1000 genomes]
rs55809526	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55809587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55906716	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55978724	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56094563	1.00[AMR][1000 genomes]
rs56224819	1.00[ASN][1000 genomes]
rs58114937	1.00[ASN][1000 genomes]
rs60009568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60072946	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60077199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60104343	0.95[ASN][1000 genomes]
rs60971316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61195985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61219299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61281993	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7137520	0.93[ASN][1000 genomes]
rs7296364	1.00[ASN][1000 genomes]
rs7298244	1.00[ASN][1000 genomes]
rs7307353	1.00[ASN][1000 genomes]
rs7312708	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7954050	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976686	1.00[ASN][1000 genomes]
rs7978989	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv525023	chr12:67672870-67708669	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664600-67684000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:67664800-67694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
4	chr12:67665200-67675400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr12:67665200-67675800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:67665200-67675800	Weak transcription	Placenta	Placenta
7	chr12:67665200-67675800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:67665200-67676200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:67665200-67678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:67665200-67684400	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:67665200-67684600	Weak transcription	Thymus	Thymus
12	chr12:67665200-67690200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:67665400-67687600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:67665600-67673800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:67665600-67674600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:67666000-67688400	Weak transcription	Fetal Kidney	kidney
18	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:67666800-67676200	Weak transcription	Fetal Intestine Large	intestine
20	chr12:67667600-67682600	Weak transcription	Lung	lung
21	chr12:67668400-67674400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:67668400-67675800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:67668400-67678400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:67668400-67688200	Weak transcription	HUVEC	blood vessel
25	chr12:67668600-67675800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:67668800-67678200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:67669000-67675400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:67669000-67675400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr12:67669200-67673400	Weak transcription	Liver	Liver
30	chr12:67669400-67675800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:67669400-67683000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:67669600-67673600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:67669600-67674000	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:67669600-67675600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:67669800-67673600	Weak transcription	Adipose Nuclei	Adipose
36	chr12:67669800-67675600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:67669800-67678000	Weak transcription	NH-A	brain
38	chr12:67670000-67673800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:67670000-67674000	Weak transcription	Brain Germinal Matrix	brain
40	chr12:67670000-67675600	Weak transcription	HepG2	liver
41	chr12:67670000-67684200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:67670000-67688800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:67670000-67699200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:67670200-67698200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:67670400-67675800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:67670400-67675800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:67670400-67689600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:67670600-67675400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:67670600-67676200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:67670600-67678200	Weak transcription	HSMM	muscle

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