Variant report

Variant	rs12279703
Chromosome Location	chr11:120294147-120294148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120279981..120282622-chr11:120292960..120295557,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1113942	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217836	1.00[AMR][1000 genomes]
rs11217838	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217839	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217856	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270008	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270771	1.00[AMR][1000 genomes]
rs12270828	1.00[AMR][1000 genomes]
rs12273877	1.00[AMR][1000 genomes]
rs12274049	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278248	1.00[AMR][1000 genomes]
rs12281329	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282434	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284358	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284391	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285963	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288721	1.00[AMR][1000 genomes]
rs12290907	1.00[AMR][1000 genomes]
rs12291110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293493	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41508654	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41527451	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111292	1.00[AMR][1000 genomes]
rs9665792	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9666344	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120265800-120295600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:120269200-120295200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:120271600-120300200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:120272000-120302400	Weak transcription	Brain Anterior Caudate	brain
5	chr11:120272200-120295200	Weak transcription	Brain Angular Gyrus	brain
6	chr11:120272200-120295200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:120272200-120299000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
9	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
11	chr11:120274200-120295600	Weak transcription	Pancreas	Pancrea
12	chr11:120274800-120294800	Weak transcription	A549	lung
13	chr11:120274800-120295200	Weak transcription	Small Intestine	intestine
14	chr11:120275400-120295200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:120275600-120295200	Weak transcription	Ovary	ovary
16	chr11:120275600-120295400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:120275600-120302400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:120275600-120302600	Weak transcription	K562	blood
19	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:120275800-120300200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:120275800-120314000	Weak transcription	Right Ventricle	heart
22	chr11:120276000-120295200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:120276400-120295400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:120276600-120302200	Weak transcription	Fetal Heart	heart
25	chr11:120276800-120295400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:120278200-120295600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr11:120278600-120295200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:120278800-120295600	Weak transcription	Fetal Brain Female	brain
30	chr11:120279400-120295000	Weak transcription	Fetal Brain Male	brain
31	chr11:120280400-120299600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:120283200-120295000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:120284800-120295000	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:120284800-120295000	Weak transcription	Fetal Lung	lung
35	chr11:120284800-120295000	Weak transcription	HMEC	breast
36	chr11:120284800-120298800	Weak transcription	NH-A	brain
37	chr11:120285000-120302000	Weak transcription	HSMMtube	muscle
38	chr11:120285000-120302200	Weak transcription	Hela-S3	cervix
39	chr11:120285600-120319800	Weak transcription	Gastric	stomach
40	chr11:120286200-120295600	Weak transcription	Esophagus	oesophagus
41	chr11:120286800-120295200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:120287400-120295000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:120287800-120295200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:120288000-120295200	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:120288400-120305800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:120288600-120309600	Weak transcription	Aorta	Aorta
47	chr11:120289200-120302400	Weak transcription	Brain Substantia Nigra	brain
48	chr11:120289600-120295000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:120290000-120308200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:120290400-120296200	Strong transcription	HSMM	muscle

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