Variant report

Variant	rs11840532
Chromosome Location	chr13:95928696-95928697
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95927378..95929483-chr13:95944855..95946497,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11839316	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11841205	0.92[ASN][1000 genomes]
rs11843102	0.95[ASN][1000 genomes]
rs17235124	0.83[ASN][1000 genomes]
rs17235159	0.92[ASN][1000 genomes]
rs17300921	0.92[ASN][1000 genomes]
rs17300928	0.95[ASN][1000 genomes]
rs4148423	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58763952	0.88[ASN][1000 genomes]
rs60106349	0.88[ASN][1000 genomes]
rs60223404	0.95[ASN][1000 genomes]
rs7321532	0.95[ASN][1000 genomes]
rs7322029	0.92[ASN][1000 genomes]
rs7338004	0.95[ASN][1000 genomes]
rs7338429	0.88[ASN][1000 genomes]
rs9524879	0.95[ASN][1000 genomes]
rs9590230	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1043019	chr13:95924585-96152616	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv900926	chr13:95927386-95972496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv900927	chr13:95927386-95975185	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95913600-95932800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr13:95917000-95931400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:95919000-95930000	Weak transcription	Esophagus	oesophagus
4	chr13:95920200-95928800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:95920200-95952800	Weak transcription	Aorta	Aorta
6	chr13:95923800-95941200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:95924200-95930800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr13:95924200-95932800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr13:95924600-95952600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr13:95924800-95932200	Weak transcription	HUVEC	blood vessel
11	chr13:95925400-95929000	Enhancers	Colon Smooth Muscle	Colon
12	chr13:95925600-95929000	Enhancers	NHLF	lung
13	chr13:95925800-95928800	Enhancers	Fetal Stomach	stomach
14	chr13:95925800-95929000	Enhancers	Fetal Lung	lung
15	chr13:95925800-95932200	Weak transcription	Psoas Muscle	Psoas
16	chr13:95926200-95929000	Enhancers	Small Intestine	intestine
17	chr13:95926600-95952400	Weak transcription	Brain Hippocampus Middle	brain
18	chr13:95926800-95931400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr13:95926800-95932800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr13:95926800-95948600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:95927000-95930200	Weak transcription	Right Atrium	heart
22	chr13:95927000-95930600	Weak transcription	Left Ventricle	heart
23	chr13:95927000-95930600	Weak transcription	Spleen	Spleen
24	chr13:95927000-95931400	Enhancers	K562	blood
25	chr13:95927000-95932000	Weak transcription	Right Ventricle	heart
26	chr13:95927000-95932800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr13:95927000-95937800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:95927000-95938000	Weak transcription	Colonic Mucosa	Colon
29	chr13:95927200-95928800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:95927200-95932000	Weak transcription	Lung	lung
31	chr13:95927200-95941600	Weak transcription	Gastric	stomach
32	chr13:95927400-95928800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:95927400-95929200	Enhancers	NHDF-Ad	bronchial
34	chr13:95927600-95929200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:95927800-95928800	Enhancers	NHEK	skin
36	chr13:95927800-95930600	Weak transcription	Ovary	ovary
37	chr13:95927800-95932000	Weak transcription	Brain Anterior Caudate	brain
38	chr13:95928000-95928800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:95928000-95930600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:95928000-95931000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr13:95928200-95929000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr13:95928200-95929200	Enhancers	A549	lung
43	chr13:95928400-95929200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:95928400-95930000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr13:95928400-95931200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:95928400-95931800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr13:95928400-95932000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:95928400-95932600	Weak transcription	HSMMtube	muscle
49	chr13:95928400-95932600	Weak transcription	NH-A	brain
50	chr13:95928400-95933800	Weak transcription	Fetal Kidney	kidney

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