Variant report

Variant	rs7128339
Chromosome Location	chr11:17453347-17453348
allele	A/G
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	MAFK	chr11:17453199-17453407	HepG2	liver:	n/a	n/a
2	MAFF	chr11:17453237-17453395	HepG2	liver:	n/a	n/a
3	MAFK	chr11:17453177-17453459	HepG2	liver:	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: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16914878	0.94[AFR][1000 genomes]
rs16934140	0.94[AFR][1000 genomes]
rs2057662	0.90[AFR][1000 genomes]
rs55976946	0.94[AFR][1000 genomes]
rs61390234	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17418600-17453600	Weak transcription	Fetal Brain Female	brain
2	chr11:17435200-17460600	Weak transcription	Right Atrium	heart
3	chr11:17443600-17458000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:17443800-17462600	Weak transcription	Brain Substantia Nigra	brain
5	chr11:17446400-17460600	Weak transcription	Fetal Intestine Small	intestine
6	chr11:17447400-17455800	Weak transcription	Brain Germinal Matrix	brain
7	chr11:17447600-17455400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:17448600-17454200	Enhancers	Dnd41	blood
9	chr11:17450200-17454200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:17450200-17457800	Enhancers	Fetal Muscle Leg	muscle
11	chr11:17450400-17454200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr11:17450400-17455400	Weak transcription	Spleen	Spleen
13	chr11:17450400-17456600	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:17450600-17456000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:17451600-17454000	Enhancers	Psoas Muscle	Psoas
16	chr11:17451600-17454200	Enhancers	Placenta	Placenta
17	chr11:17451800-17458800	Weak transcription	Fetal Thymus	thymus
18	chr11:17452200-17453400	Enhancers	Adipose Nuclei	Adipose
19	chr11:17452200-17454200	Enhancers	Brain Angular Gyrus	brain
20	chr11:17452200-17454200	Enhancers	Fetal Stomach	stomach
21	chr11:17452200-17454400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:17452600-17454000	Enhancers	HSMMtube	muscle
23	chr11:17452600-17457600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:17452800-17453400	Enhancers	Brain Anterior Caudate	brain
25	chr11:17452800-17453600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:17452800-17453800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:17452800-17454600	Enhancers	Fetal Brain Male	brain
28	chr11:17452800-17459000	Weak transcription	Lung	lung
29	chr11:17453000-17460200	Weak transcription	Gastric	stomach
30	chr11:17453200-17453600	Weak transcription	Fetal Lung	lung
31	chr11:17453200-17455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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