Variant report

Variant	rs11609970
Chromosome Location	chr12:117350519-117350520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117348859..117352842-chr12:117353908..117358678,6	K562	blood:
2	chr12:117255053..117257426-chr12:117349302..117351380,2	K562	blood:
3	chr12:117349947..117352255-chr12:117362016..117363854,2	K562	blood:
4	chr12:117349929..117351804-chr12:117393764..117395801,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10735099	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10735102	0.82[AMR][1000 genomes]
rs10744885	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10744886	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10850731	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11068264	0.85[AMR][1000 genomes]
rs12821492	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12823620	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2393111	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3893370	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4076700	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4077519	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4542506	0.80[AMR][1000 genomes]
rs4562926	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4562927	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4766812	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4766814	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4766815	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4766821	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4767474	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4767478	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4767480	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4767484	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4767487	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4767488	0.84[AMR][1000 genomes]
rs4767489	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4767491	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6490097	0.81[ASN][1000 genomes]
rs7137006	0.82[AMR][1000 genomes]
rs7137752	0.80[EUR][1000 genomes]
rs7297155	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7303882	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7308498	0.80[EUR][1000 genomes]
rs7316144	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7484620	0.85[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	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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349400-117354400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:117349600-117350600	Enhancers	Fetal Brain Male	brain
3	chr12:117349600-117350800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:117349600-117350800	Weak transcription	Pancreas	Pancrea
5	chr12:117349600-117351000	Enhancers	Small Intestine	intestine
6	chr12:117349600-117351400	Weak transcription	Lung	lung
7	chr12:117349600-117351400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr12:117349600-117352000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:117349600-117353800	Weak transcription	Gastric	stomach
10	chr12:117349600-117354200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:117349600-117354200	Weak transcription	Esophagus	oesophagus
12	chr12:117349600-117354400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:117349600-117363600	Weak transcription	Brain Anterior Caudate	brain
14	chr12:117349600-117364000	Weak transcription	Brain Angular Gyrus	brain
15	chr12:117349600-117365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:117349800-117350600	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:117349800-117350800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:117349800-117350800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:117349800-117351200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:117349800-117351200	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:117349800-117351200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:117349800-117351200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr12:117349800-117351200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:117349800-117351600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:117349800-117351600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr12:117349800-117353200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:117349800-117353800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:117349800-117353800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:117349800-117353800	Weak transcription	NHDF-Ad	bronchial
30	chr12:117349800-117354400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:117349800-117354400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:117349800-117356000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:117349800-117362200	Weak transcription	Thymus	Thymus
34	chr12:117349800-117362400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:117349800-117363600	Weak transcription	Brain Substantia Nigra	brain
36	chr12:117349800-117363800	Weak transcription	Aorta	Aorta
37	chr12:117349800-117364000	Weak transcription	Adipose Nuclei	Adipose
38	chr12:117349800-117366000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:117349800-117366000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:117349800-117366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:117350000-117350800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:117350000-117350800	Weak transcription	Primary B cells from cord blood	blood
44	chr12:117350000-117350800	Weak transcription	NHEK	skin
45	chr12:117350000-117351200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr12:117350000-117351200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr12:117350000-117351400	Weak transcription	Fetal Intestine Small	intestine
48	chr12:117350000-117351400	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:117350000-117351400	Weak transcription	HSMM	muscle
50	chr12:117350000-117351600	Enhancers	Dnd41	blood

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