Variant report

Variant	rs577948639
Chromosome Location	chr11:18389875-18389876
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18389829..18393207-chr11:18415267..18417660,3	K562	blood:
2	chr11:18386073..18387800-chr11:18389640..18392386,2	K562	blood:
3	chr11:18385990..18389914-chr11:18403284..18406325,4	K562	blood:
4	chr11:18339570..18341563-chr11:18389035..18391001,2	K562	blood:

Variant related genes	Relation type
ENSG00000134333	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	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
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv523373	chr11:18382911-18401531	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	esv1811183	chr11:18389643-18432437	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18345000-18405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18346800-18390400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:18361800-18391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:18363000-18390200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:18363200-18393000	Weak transcription	Fetal Heart	heart
6	chr11:18367600-18390000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:18373200-18390600	Strong transcription	Adipose Nuclei	Adipose
8	chr11:18373400-18390000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:18373400-18390400	Strong transcription	Dnd41	blood
10	chr11:18373600-18390200	Strong transcription	Fetal Thymus	thymus
11	chr11:18373600-18390400	Strong transcription	Placenta	Placenta
12	chr11:18373600-18391200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:18373800-18390400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:18374800-18390200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:18377200-18390000	Strong transcription	Fetal Brain Female	brain
16	chr11:18382600-18390400	Strong transcription	Primary B cells from cord blood	blood
17	chr11:18382800-18390000	Strong transcription	Brain Cingulate Gyrus	brain
18	chr11:18383800-18390000	Weak transcription	Fetal Brain Male	brain
19	chr11:18383800-18390000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:18383800-18391400	Weak transcription	Colonic Mucosa	Colon
21	chr11:18385000-18390000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:18385000-18392600	Weak transcription	Small Intestine	intestine
23	chr11:18386000-18390400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:18387000-18390000	Weak transcription	Right Atrium	heart
25	chr11:18387400-18390000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:18387600-18390600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:18387600-18390600	Weak transcription	Spleen	Spleen
28	chr11:18387600-18391200	Weak transcription	Brain Angular Gyrus	brain
29	chr11:18387600-18391400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:18387600-18391400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:18387600-18391400	Weak transcription	Aorta	Aorta
32	chr11:18387600-18391400	Weak transcription	Right Ventricle	heart
33	chr11:18387600-18391600	Enhancers	Primary hematopoietic stem cells	blood
34	chr11:18387600-18393200	Weak transcription	Gastric	stomach
35	chr11:18387600-18394000	Weak transcription	Fetal Stomach	stomach
36	chr11:18387600-18395400	Weak transcription	Lung	lung
37	chr11:18387600-18398600	Weak transcription	Ovary	ovary
38	chr11:18387600-18404200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:18387600-18404400	Weak transcription	Esophagus	oesophagus
40	chr11:18387600-18404800	Weak transcription	Pancreas	Pancrea
41	chr11:18387800-18391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:18387800-18404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:18388000-18390000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:18388000-18390400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr11:18388000-18405000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:18388200-18390800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:18388200-18390800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:18388200-18391000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:18388200-18391200	Weak transcription	Fetal Lung	lung
50	chr11:18388200-18391600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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