Variant report

Variant	rs539892520
Chromosome Location	chr11:18629768-18629769
allele	-/TCATGGGATTCAACTTA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18625144..18627417-chr11:18628877..18631638,2	K562	blood:
2	chr11:18629347..18632000-chr11:18632583..18634106,2	K562	blood:
3	chr11:18530150..18532060-chr11:18629493..18631954,2	K562	blood:
4	chr11:18621999..18623639-chr11:18627567..18629893,2	K562	blood:

Variant related genes	Relation type
ENSG00000256588	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv516413	chr11:18628418-18643758	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18611200-18636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:18611400-18635800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:18611800-18636200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:18612000-18630800	Weak transcription	Colonic Mucosa	Colon
5	chr11:18612000-18636200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:18612200-18629800	Weak transcription	HUVEC	blood vessel
7	chr11:18612400-18631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:18612400-18638400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:18612800-18630800	Weak transcription	HSMMtube	muscle
10	chr11:18614600-18631000	Weak transcription	HepG2	liver
11	chr11:18617800-18630000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:18617800-18630000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:18617800-18630200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:18617800-18632200	Weak transcription	Brain Substantia Nigra	brain
15	chr11:18618000-18636400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:18618200-18631200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:18618400-18630600	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:18618400-18631000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:18618400-18635000	Weak transcription	NHEK	skin
20	chr11:18618600-18631000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:18618600-18632000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:18618600-18632400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:18618600-18632600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:18618600-18635000	Weak transcription	Esophagus	oesophagus
25	chr11:18618600-18636200	Weak transcription	Pancreas	Pancrea
26	chr11:18618600-18636200	Weak transcription	Right Ventricle	heart
27	chr11:18619800-18630000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:18623200-18630000	Weak transcription	Psoas Muscle	Psoas
29	chr11:18623400-18632400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:18623600-18629800	Weak transcription	Primary B cells from cord blood	blood
31	chr11:18624000-18637800	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:18624800-18640800	Weak transcription	Right Atrium	heart
33	chr11:18625000-18635200	Weak transcription	Small Intestine	intestine
34	chr11:18625200-18629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:18625200-18637200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:18625200-18637800	Strong transcription	A549	lung
37	chr11:18625600-18629800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:18625800-18633200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:18625800-18638400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:18626000-18630000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:18626200-18632600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:18626200-18633000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:18626200-18635600	Weak transcription	Gastric	stomach
44	chr11:18626200-18638000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:18626200-18638800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:18626800-18631000	Weak transcription	Brain Angular Gyrus	brain
47	chr11:18626800-18634200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:18627000-18630000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:18627000-18631600	Strong transcription	HMEC	breast
50	chr11:18627000-18632600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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