Variant report

Variant	rs11608609
Chromosome Location	chr12:117471740-117471741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117470652..117475607-chr12:117477009..117480553,6	K562	blood:
2	chr12:117470409..117472666-chr12:117473842..117475716,2	MCF-7	breast:
3	chr12:117465370..117468011-chr12:117469598..117472527,2	K562	blood:
4	chr12:117461681..117464080-chr12:117470751..117473024,2	MCF-7	breast:
5	chr12:117469991..117472353-chr12:117476644..117478230,2	MCF-7	breast:
6	chr12:117468241..117470806-chr12:117471546..117474082,2	K562	blood:
7	chr12:117469818..117471937-chr12:117535660..117537284,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000088992	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10507276	0.93[EUR][1000 genomes]
rs10850736	0.87[EUR][1000 genomes]
rs11068292	0.82[ASN][1000 genomes]
rs11608681	0.91[EUR][1000 genomes]
rs11609741	0.93[EUR][1000 genomes]
rs11609917	0.93[EUR][1000 genomes]
rs11610984	0.96[EUR][1000 genomes]
rs11614947	0.85[EUR][1000 genomes]
rs2393113	0.85[ASN][1000 genomes]
rs3741465	0.89[EUR][1000 genomes]
rs6490100	0.90[EUR][1000 genomes]
rs7301877	0.96[EUR][1000 genomes]
rs7976384	0.96[EUR][1000 genomes]
rs7978495	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117452800-117479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:117462000-117477400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:117464000-117471800	Weak transcription	K562	blood
4	chr12:117466200-117474600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:117466400-117473800	Weak transcription	Aorta	Aorta
6	chr12:117466400-117475600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:117466600-117479800	Weak transcription	Hela-S3	cervix
8	chr12:117467000-117475400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:117467000-117479600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:117467200-117475400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:117467400-117486000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:117468200-117477000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:117468600-117477400	Weak transcription	Primary B cells from cord blood	blood
14	chr12:117469200-117474800	Weak transcription	Lung	lung
15	chr12:117469800-117474600	Enhancers	Fetal Heart	heart
16	chr12:117470000-117472000	Enhancers	Pancreas	Pancrea
17	chr12:117470000-117472200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:117470200-117472200	Bivalent Enhancer	Fetal Thymus	thymus
19	chr12:117470200-117472600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:117470400-117471800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:117470400-117471800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:117470400-117472000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr12:117470400-117472400	Strong transcription	A549	lung
24	chr12:117470400-117476800	Enhancers	Stomach Mucosa	stomach
25	chr12:117470600-117471800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr12:117470600-117471800	Enhancers	Spleen	Spleen
27	chr12:117470600-117472200	Enhancers	Brain Angular Gyrus	brain
28	chr12:117470600-117472600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr12:117470600-117473000	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr12:117470800-117471800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:117470800-117471800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
32	chr12:117470800-117472400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:117470800-117472600	Bivalent Enhancer	Adipose Nuclei	Adipose
34	chr12:117470800-117472800	Bivalent Enhancer	Fetal Brain Male	brain
35	chr12:117470800-117472800	Enhancers	Right Ventricle	heart
36	chr12:117470800-117474600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr12:117470800-117474800	Enhancers	Left Ventricle	heart
38	chr12:117470800-117476400	Strong transcription	Dnd41	blood
39	chr12:117470800-117483400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:117471000-117471800	Bivalent Enhancer	Brain Germinal Matrix	brain
41	chr12:117471000-117472000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:117471000-117472200	Bivalent Enhancer	Fetal Intestine Small	intestine
43	chr12:117471000-117472200	Bivalent Enhancer	Fetal Lung	lung
44	chr12:117471000-117472200	Enhancers	Right Atrium	heart
45	chr12:117471000-117472400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:117471200-117471800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:117471200-117471800	Bivalent Enhancer	Brain Hippocampus Middle	brain
48	chr12:117471200-117472000	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:117471200-117472200	Enhancers	Brain Anterior Caudate	brain
50	chr12:117471200-117472400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links