Variant report

Variant	rs558995377
Chromosome Location	chr11:108725739-108725740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108724551..108728039-chr11:108729309..108732263,3	K562	blood:
2	chr11:108717216..108720020-chr11:108723886..108726081,2	K562	blood:
3	chr11:108723598..108725944-chr11:108749030..108751490,2	K562	blood:

Variant related genes	Relation type
ENSG00000178105	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108707600-108740800	Weak transcription	HMEC	breast
2	chr11:108708200-108729200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:108710200-108729200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:108710200-108729400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:108710200-108735800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:108710200-108738200	Weak transcription	Gastric	stomach
7	chr11:108710600-108729800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:108715400-108738200	Weak transcription	K562	blood
9	chr11:108717600-108729600	Weak transcription	Dnd41	blood
10	chr11:108717800-108729400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:108721400-108728200	Weak transcription	Lung	lung
12	chr11:108721600-108742200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:108723600-108733200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:108724400-108725800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:108724400-108725800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:108724600-108726000	Weak transcription	Fetal Kidney	kidney
17	chr11:108724600-108729600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:108724800-108725800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr11:108724800-108726200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:108724800-108728200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:108725000-108725800	Active TSS	Primary B cells from cord blood	blood
22	chr11:108725000-108725800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr11:108725000-108726000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:108725000-108727800	Weak transcription	Right Ventricle	heart
25	chr11:108725000-108728000	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:108725000-108728000	Weak transcription	Left Ventricle	heart
27	chr11:108725000-108728200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:108725000-108729400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:108725000-108729800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:108725000-108736600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:108725000-108737000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:108725000-108739600	Weak transcription	A549	lung
33	chr11:108725000-108740000	Weak transcription	NHDF-Ad	bronchial
34	chr11:108725000-108741000	Weak transcription	HSMMtube	muscle
35	chr11:108725000-108741400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:108725200-108725800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:108725200-108725800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr11:108725200-108726000	Active TSS	Osteobl	bone
39	chr11:108725200-108728000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:108725200-108729600	Weak transcription	Psoas Muscle	Psoas
41	chr11:108725400-108725800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:108725400-108725800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:108725400-108725800	Active TSS	Duodenum Mucosa	Duodenum
44	chr11:108725400-108725800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr11:108725400-108727800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:108725400-108728000	Weak transcription	Ovary	ovary
47	chr11:108725400-108728000	Weak transcription	Right Atrium	heart
48	chr11:108725400-108729800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:108725400-108730200	Weak transcription	NH-A	brain
50	chr11:108725400-108731800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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