Variant report

Variant	rs12281206
Chromosome Location	chr11:17002719-17002720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16996626..17000145-chr11:17001852..17005291,4	K562	blood:
2	chr11:16996104..16998642-chr11:17000336..17002866,2	MCF-7	breast:
3	chr11:16997842..17006545-chr11:17033236..17037894,15	MCF-7	breast:
4	chr11:16976871..16981000-chr11:17000472..17004649,3	MCF-7	breast:
5	chr11:16999245..17001608-chr11:17002120..17006650,5	MCF-7	breast:
6	chr11:17002569..17005587-chr11:17010572..17013703,3	K562	blood:
7	chr11:17001912..17011357-chr11:17032509..17037700,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244398	Chromatin interaction
ENSG00000166689	Chromatin interaction
ENSG00000184669	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1059640	0.89[AMR][1000 genomes]
rs12294528	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55853906	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57681321	0.89[AMR][1000 genomes]
rs59763013	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126283	0.89[AMR][1000 genomes]
rs7928860	0.89[AMR][1000 genomes]
rs7939949	0.90[AFR][1000 genomes];0.89[AMR][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	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16981800-17002800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:16982200-17003800	Weak transcription	Right Ventricle	heart
3	chr11:16991400-17002800	Weak transcription	Right Atrium	heart
4	chr11:16992200-17007400	Weak transcription	Colonic Mucosa	Colon
5	chr11:16997600-17003000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:16997600-17003200	Enhancers	Brain Anterior Caudate	brain
7	chr11:16997600-17004600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:16998000-17005000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:16998000-17009000	Enhancers	Stomach Mucosa	stomach
10	chr11:16998000-17011800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:16998200-17003200	Weak transcription	Aorta	Aorta
12	chr11:16998600-17004200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:16998800-17002800	Weak transcription	Fetal Brain Male	brain
14	chr11:16998800-17007800	Genic enhancers	Fetal Intestine Small	intestine
15	chr11:16999000-17003000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:16999400-17002800	Weak transcription	Esophagus	oesophagus
17	chr11:16999600-17003000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:17000000-17002800	Weak transcription	Brain Germinal Matrix	brain
19	chr11:17000000-17002800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:17000600-17004600	Enhancers	Fetal Intestine Large	intestine
21	chr11:17000600-17011800	Enhancers	Pancreas	Pancrea
22	chr11:17000800-17003000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr11:17000800-17006200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:17001000-17003000	Enhancers	HepG2	liver
25	chr11:17001200-17003400	Enhancers	Brain Hippocampus Middle	brain
26	chr11:17001200-17003600	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:17001200-17004600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:17001200-17004800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:17001400-17002800	Weak transcription	HSMMtube	muscle
30	chr11:17001400-17004200	Enhancers	Fetal Muscle Trunk	muscle
31	chr11:17001400-17004800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:17001400-17005000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:17001400-17005200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:17001400-17005200	Enhancers	Brain Angular Gyrus	brain
35	chr11:17001400-17005400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:17001400-17010600	Enhancers	Placenta	Placenta
37	chr11:17001600-17002800	Weak transcription	Fetal Heart	heart
38	chr11:17001600-17004000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr11:17001600-17005200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:17001800-17002800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:17001800-17002800	Weak transcription	Fetal Lung	lung
42	chr11:17001800-17003000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:17001800-17003800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:17001800-17004000	Enhancers	NH-A	brain
45	chr11:17001800-17006600	Weak transcription	Liver	Liver
46	chr11:17002000-17002800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:17002000-17002800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:17002000-17003000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:17002000-17003200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:17002000-17004800	Enhancers	Cortex derived primary cultured neurospheres	brain

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