Variant report

Variant	rs11240983
Chromosome Location	chr5:108088444-108088445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:108087050..108092037-chr5:108092288..108095333,5	K562	blood:
2	chr5:108083882..108086165-chr5:108087597..108089755,2	K562	blood:
3	chr5:108082550..108087144-chr5:108087711..108092491,6	MCF-7	breast:
4	chr5:108062389..108066599-chr5:108086966..108090381,3	MCF-7	breast:
5	chr5:108088004..108090580-chr5:108268352..108270013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272523	Chromatin interaction
ENSG00000151422	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11741158	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12152902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12153447	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12153449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12153549	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12188386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13154354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13169624	1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs13184924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13185815	1.00[YRI][hapmap]
rs34263420	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs34505415	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34989254	0.88[EUR][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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108085600-108091000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:108085600-108102600	Weak transcription	Lung	lung
3	chr5:108085600-108119800	Weak transcription	Left Ventricle	heart
4	chr5:108085800-108089200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:108085800-108089400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:108085800-108089400	Weak transcription	HSMM	muscle
7	chr5:108085800-108089400	Weak transcription	HSMMtube	muscle
8	chr5:108085800-108094400	Weak transcription	Brain Anterior Caudate	brain
9	chr5:108085800-108095200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:108085800-108095200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:108085800-108095400	Weak transcription	Primary B cells from cord blood	blood
12	chr5:108085800-108095400	Weak transcription	A549	lung
13	chr5:108085800-108097800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:108085800-108097800	Weak transcription	Brain Angular Gyrus	brain
15	chr5:108086200-108089000	Weak transcription	NH-A	brain
16	chr5:108086200-108092800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:108086200-108095400	Weak transcription	Primary T cells from cord blood	blood
18	chr5:108086200-108095400	Weak transcription	Fetal Lung	lung
19	chr5:108086200-108095600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:108086200-108119200	Weak transcription	Fetal Kidney	kidney
21	chr5:108086200-108120600	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:108086400-108089400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:108086400-108094200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:108086400-108095000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:108086600-108088800	Weak transcription	Fetal Heart	heart
26	chr5:108086600-108091000	Weak transcription	Fetal Brain Male	brain
27	chr5:108086800-108089400	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:108087000-108089400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:108087200-108088600	Weak transcription	HMEC	breast
30	chr5:108087600-108089400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:108087600-108089800	Enhancers	Hela-S3	cervix
32	chr5:108087600-108090200	Enhancers	Osteobl	bone
33	chr5:108087800-108088600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:108087800-108088600	Enhancers	NHEK	skin
35	chr5:108087800-108088800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:108088000-108089000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:108088000-108089000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:108088000-108089400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:108088200-108088800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:108088200-108089000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:108088200-108089400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:108088200-108089600	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr5:108088200-108090000	Enhancers	Adipose Nuclei	Adipose
44	chr5:108088400-108088600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:108088400-108088600	Flanking Active TSS	NHDF-Ad	bronchial
46	chr5:108088400-108088600	Enhancers	NHLF	lung
47	chr5:108088400-108088800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr5:108088400-108089400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:108088400-108089600	Active TSS	GM12878-XiMat	blood
50	chr5:108088400-108095400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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