Variant report

Variant	rs5030259
Chromosome Location	chr11:32421841-32421842
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10160263	1.00[AFR][1000 genomes]
rs11031773	1.00[AFR][1000 genomes]
rs12292702	0.89[AFR][1000 genomes]
rs5030318	1.00[AFR][1000 genomes]
rs5030329	0.89[AFR][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	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1038188	chr11:32410305-32449799	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32409400-32422000	Weak transcription	Fetal Kidney	kidney
2	chr11:32414800-32424200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:32417600-32422200	Strong transcription	Ovary	ovary
4	chr11:32418200-32423600	Weak transcription	Spleen	Spleen
5	chr11:32420400-32429600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:32421200-32422200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:32421200-32422200	Enhancers	Placenta	Placenta
8	chr11:32421400-32422000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:32421400-32422000	Enhancers	Dnd41	blood
10	chr11:32421400-32422200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:32421400-32422400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:32421600-32422000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:32421600-32422000	Enhancers	Left Ventricle	heart
14	chr11:32421600-32422000	Enhancers	HMEC	breast
15	chr11:32421600-32422200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:32421600-32422200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:32421600-32422200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:32421600-32422200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:32421600-32422400	Enhancers	Fetal Heart	heart
20	chr11:32421600-32422400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr11:32421800-32422000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr11:32421800-32422000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:32421800-32422000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
24	chr11:32421800-32422000	Bivalent Enhancer	Fetal Lung	lung
25	chr11:32421800-32422000	Bivalent Enhancer	Fetal Stomach	stomach
26	chr11:32421800-32422000	Bivalent Enhancer	NH-A	brain
27	chr11:32421800-32422200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:32421800-32422200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr11:32421800-32422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:32421800-32422400	Genic enhancers	K562	blood

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