Variant report

Variant	rs11938083
Chromosome Location	chr4:54959241-54959242
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs61277389	1.00[AMR][1000 genomes]
rs6554149	1.00[AMR][1000 genomes]
rs6833117	1.00[AMR][1000 genomes]
rs73149510	1.00[AMR][1000 genomes]
rs73149513	1.00[AMR][1000 genomes]
rs73149516	1.00[AMR][1000 genomes]
rs7440101	1.00[AMR][1000 genomes]
rs9995137	1.00[AMR][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	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv594202	chr4:54943432-55011123	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54958400-54959600	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr4:54958600-54959400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
3	chr4:54958600-54959400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:54958600-54959400	Enhancers	Pancreas	Pancrea
5	chr4:54958600-54959800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:54958600-54960000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:54958600-54960200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:54958600-54960200	Bivalent Enhancer	Fetal Heart	heart
9	chr4:54958600-54960400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr4:54958600-54960400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:54958600-54960600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr4:54958800-54959400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr4:54958800-54959400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr4:54958800-54959400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:54958800-54959400	Bivalent Enhancer	Colon Smooth Muscle	Colon
16	chr4:54958800-54959400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr4:54958800-54959400	Bivalent Enhancer	NH-A	brain
18	chr4:54958800-54959600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
19	chr4:54958800-54959600	Bivalent Enhancer	HepG2	liver
20	chr4:54958800-54960000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr4:54958800-54960000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
22	chr4:54958800-54960000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:54958800-54960000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr4:54958800-54960200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:54958800-54960200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
26	chr4:54958800-54960200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr4:54958800-54960200	Bivalent Enhancer	Fetal Thymus	thymus
28	chr4:54958800-54960200	Bivalent Enhancer	GM12878-XiMat	blood
29	chr4:54958800-54960400	Bivalent Enhancer	Fetal Intestine Large	intestine
30	chr4:54958800-54960400	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr4:54958800-54960600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
32	chr4:54958800-54962800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:54958800-54965800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:54959000-54959400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr4:54959000-54959400	Bivalent Enhancer	Primary B cells from cord blood	blood
36	chr4:54959000-54959400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
37	chr4:54959000-54959600	Bivalent Enhancer	Primary T cells from cord blood	blood
38	chr4:54959000-54960000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr4:54959000-54960000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
40	chr4:54959000-54960600	Weak transcription	HSMMtube	muscle
41	chr4:54959000-54964400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:54959200-54959400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
43	chr4:54959200-54959400	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
44	chr4:54959200-54959400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
45	chr4:54959200-54959400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
46	chr4:54959200-54959400	Enhancers	Lung	lung
47	chr4:54959200-54959400	Bivalent Enhancer	Small Intestine	intestine
48	chr4:54959200-54959600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
49	chr4:54959200-54959600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:54959200-54959800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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