Variant report

Variant	rs12226635
Chromosome Location	chr11:17497462-17497463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17483603..17486508-chr11:17496196..17498244,2	MCF-7	breast:
2	chr11:17408716..17410225-chr11:17496014..17498042,2	MCF-7	breast:
3	chr11:17407664..17411994-chr11:17495609..17498712,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187486	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12288157	0.87[EUR][1000 genomes]
rs12417921	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs12422005	1.00[CEU][hapmap]
rs16914878	0.86[YRI][hapmap]
rs16934136	1.00[CEU][hapmap]
rs2237978	0.84[YRI][hapmap]
rs34048175	0.80[EUR][1000 genomes]
rs56027747	0.84[EUR][1000 genomes]
rs56213202	0.80[EUR][1000 genomes]
rs56296742	0.80[EUR][1000 genomes]
rs56393905	0.87[EUR][1000 genomes]
rs59060762	0.87[EUR][1000 genomes]
rs7110117	1.00[CEU][hapmap]
rs7111475	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs8192695	1.00[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv897019	chr11:17475443-17499547	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17496600-17497600	Enhancers	Pancreas	Pancrea
2	chr11:17496800-17499000	Active TSS	Brain Angular Gyrus	brain
3	chr11:17496800-17499000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:17497200-17497600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:17497200-17497600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
6	chr11:17497200-17497600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr11:17497200-17497600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:17497200-17497600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
9	chr11:17497200-17497600	Bivalent Enhancer	Fetal Heart	heart
10	chr11:17497200-17497800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:17497200-17497800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:17497200-17497800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:17497200-17497800	Bivalent Enhancer	Fetal Brain Male	brain
14	chr11:17497200-17498600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:17497200-17498800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:17497200-17498800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:17497200-17498800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr11:17497200-17498800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr11:17497200-17499000	Active TSS	Fetal Brain Female	brain
20	chr11:17497400-17497600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:17497400-17497600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:17497400-17497600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:17497400-17497600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
24	chr11:17497400-17497600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
25	chr11:17497400-17497600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr11:17497400-17497600	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr11:17497400-17497600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
28	chr11:17497400-17497600	Enhancers	Psoas Muscle	Psoas
29	chr11:17497400-17497600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr11:17497400-17497600	Bivalent Enhancer	Spleen	Spleen
31	chr11:17497400-17497800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr11:17497400-17497800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:17497400-17497800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:17497400-17497800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:17497400-17497800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr11:17497400-17497800	Bivalent/Poised TSS	Left Ventricle	heart
37	chr11:17497400-17497800	Bivalent Enhancer	Ovary	ovary
38	chr11:17497400-17497800	Flanking Bivalent TSS/Enh	A549	lung
39	chr11:17497400-17497800	Flanking Active TSS	Dnd41	blood
40	chr11:17497400-17498000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:17497400-17498000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr11:17497400-17498000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr11:17497400-17498000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr11:17497400-17498000	Active TSS	Gastric	stomach
45	chr11:17497400-17498400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
46	chr11:17497400-17498400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:17497400-17498600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:17497400-17498600	Bivalent/Poised TSS	Right Ventricle	heart
49	chr11:17497400-17498800	Active TSS	Brain Anterior Caudate	brain
50	chr11:17497400-17498800	Active TSS	Brain Inferior Temporal Lobe	brain

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