Variant report

Variant	rs12278248
Chromosome Location	chr11:120213716-120213717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120208495..120210605-chr11:120212464..120216730,4	MCF-7	breast:
2	chr11:120205774..120210534-chr11:120211635..120216657,9	MCF-7	breast:
3	chr11:120196112..120199628-chr11:120212006..120215028,3	MCF-7	breast:
4	chr11:120212208..120214300-chr11:120217679..120220181,2	MCF-7	breast:
5	chr11:120200949..120202634-chr11:120213060..120214568,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181264	Chromatin interaction
ENSG00000196914	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1113942	1.00[AMR][1000 genomes]
rs11217760	1.00[AMR][1000 genomes]
rs11217761	1.00[AMR][1000 genomes]
rs11217836	1.00[AMR][1000 genomes]
rs11217838	1.00[AMR][1000 genomes]
rs11217839	1.00[AMR][1000 genomes]
rs11217856	1.00[AMR][1000 genomes]
rs11217858	1.00[AMR][1000 genomes]
rs11217877	1.00[AMR][1000 genomes]
rs12270008	1.00[AMR][1000 genomes]
rs12270771	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270828	1.00[AMR][1000 genomes]
rs12273877	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274049	1.00[AMR][1000 genomes]
rs12274700	1.00[AMR][1000 genomes]
rs12279703	1.00[AMR][1000 genomes]
rs12281329	1.00[AMR][1000 genomes]
rs12281935	1.00[AMR][1000 genomes]
rs12282434	1.00[AMR][1000 genomes]
rs12284358	1.00[AMR][1000 genomes]
rs12284391	1.00[AMR][1000 genomes]
rs12285963	1.00[AMR][1000 genomes]
rs12286613	1.00[AMR][1000 genomes]
rs12288721	1.00[AMR][1000 genomes]
rs12290907	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291110	1.00[AMR][1000 genomes]
rs12293493	1.00[AMR][1000 genomes]
rs17123851	0.82[AFR][1000 genomes]
rs41508654	1.00[AMR][1000 genomes]
rs41527451	1.00[AMR][1000 genomes]
rs7111292	1.00[AMR][1000 genomes]
rs9665792	1.00[AMR][1000 genomes]
rs9666344	1.00[AMR][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	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

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120208800-120214200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:120208800-120216200	Weak transcription	Esophagus	oesophagus
3	chr11:120208800-120223400	Weak transcription	Gastric	stomach
4	chr11:120209000-120217000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:120209600-120214600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:120209600-120215200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:120209600-120216200	Weak transcription	Lung	lung
8	chr11:120209600-120224600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:120210400-120214600	Weak transcription	Placenta	Placenta
10	chr11:120210600-120214200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:120210600-120214200	Weak transcription	Spleen	Spleen
12	chr11:120210600-120214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:120210600-120214800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:120210600-120217000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:120210600-120217000	Weak transcription	Pancreas	Pancrea
16	chr11:120210600-120218200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:120210800-120215000	Weak transcription	Brain Substantia Nigra	brain
18	chr11:120211000-120214000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:120211000-120214000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:120211000-120214200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:120211000-120214200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:120211000-120214200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:120211000-120214200	Weak transcription	Left Ventricle	heart
24	chr11:120211000-120214200	Weak transcription	HSMM	muscle
25	chr11:120211000-120214600	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:120211000-120215000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:120211000-120215000	Weak transcription	Fetal Lung	lung
28	chr11:120211000-120215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:120211000-120215200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:120211000-120217000	Weak transcription	Colonic Mucosa	Colon
31	chr11:120211000-120217000	Weak transcription	Fetal Brain Male	brain
32	chr11:120211000-120217000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:120211000-120217400	Enhancers	Liver	Liver
34	chr11:120211000-120218600	Enhancers	Fetal Heart	heart
35	chr11:120211000-120224400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:120211200-120214200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:120211200-120214200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:120211200-120218600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:120211400-120214000	Weak transcription	Osteobl	bone
40	chr11:120211400-120217600	Weak transcription	Brain Germinal Matrix	brain
41	chr11:120211600-120214000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:120211600-120214000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:120211600-120214200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:120211600-120214200	Weak transcription	NH-A	brain
45	chr11:120211600-120215200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:120211600-120215200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:120211600-120219000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr11:120211600-120224400	Weak transcription	A549	lung
49	chr11:120211800-120214600	Weak transcription	HSMMtube	muscle
50	chr11:120211800-120215200	Weak transcription	Stomach Mucosa	stomach

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