Variant report

Variant	rs12290390
Chromosome Location	chr11:17454624-17454625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:17454534-17455272	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17448563..17451208-chr11:17452999..17456601,4	MCF-7	breast:

Variant related genes	Relation type
ABCC8	TF binding region
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10466384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024287	1.00[AMR][1000 genomes]
rs11024322	1.00[CHB][hapmap]
rs28650167	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7937423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7946604	0.85[AFR][1000 genomes];1.00[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	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17435200-17460600	Weak transcription	Right Atrium	heart
2	chr11:17443600-17458000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:17443800-17462600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:17446400-17460600	Weak transcription	Fetal Intestine Small	intestine
5	chr11:17447400-17455800	Weak transcription	Brain Germinal Matrix	brain
6	chr11:17447600-17455400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:17450200-17457800	Enhancers	Fetal Muscle Leg	muscle
8	chr11:17450400-17455400	Weak transcription	Spleen	Spleen
9	chr11:17450400-17456600	Enhancers	Fetal Muscle Trunk	muscle
10	chr11:17450600-17456000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:17451800-17458800	Weak transcription	Fetal Thymus	thymus
12	chr11:17452600-17457600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:17452800-17459000	Weak transcription	Lung	lung
14	chr11:17453000-17460200	Weak transcription	Gastric	stomach
15	chr11:17453200-17455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:17453800-17455600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:17453800-17456000	Weak transcription	Fetal Lung	lung
18	chr11:17454000-17455400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:17454000-17455600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:17454000-17455800	Weak transcription	Fetal Brain Female	brain
21	chr11:17454000-17464000	Weak transcription	Brain Anterior Caudate	brain
22	chr11:17454200-17455400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:17454200-17455600	Weak transcription	Fetal Stomach	stomach
24	chr11:17454200-17455800	Weak transcription	Placenta	Placenta
25	chr11:17454200-17456000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:17454200-17458800	Weak transcription	Dnd41	blood
27	chr11:17454200-17465800	Weak transcription	Brain Angular Gyrus	brain
28	chr11:17454600-17455400	Weak transcription	Fetal Brain Male	brain

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