Variant report

Variant	rs4939138
Chromosome Location	chr11:57117554-57117555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57101962..57103972-chr11:57117416..57118943,2	K562	blood:
2	chr11:57111827..57114094-chr11:57115840..57117625,2	MCF-7	breast:
3	chr11:57115651..57117982-chr11:57177952..57179680,2	K562	blood:

Variant related genes	Relation type
ENSG00000149136	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10732882	0.81[ASN][1000 genomes]
rs10736683	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10750859	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896610	0.86[ASN][1000 genomes]
rs1837974	0.88[ASN][1000 genomes]
rs2003065	0.91[ASN][1000 genomes]
rs2276042	0.89[ASN][1000 genomes]
rs3781901	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3781902	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4570598	0.88[ASN][1000 genomes]
rs55637147	0.81[ASN][1000 genomes]
rs56077100	0.88[ASN][1000 genomes]
rs879646	0.88[ASN][1000 genomes]
rs9667065	0.88[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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57104200-57119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:57113600-57117600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:57116400-57117600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr11:57116600-57117600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:57116800-57117600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:57117000-57117600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
7	chr11:57117000-57117600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:57117000-57117600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:57117000-57117800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:57117000-57117800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:57117000-57117800	Enhancers	Fetal Muscle Leg	muscle
12	chr11:57117000-57117800	Enhancers	Ovary	ovary
13	chr11:57117000-57117800	Enhancers	K562	blood
14	chr11:57117000-57118000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr11:57117200-57117600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr11:57117200-57117600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr11:57117200-57117600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr11:57117200-57117600	Enhancers	Fetal Brain Male	brain
19	chr11:57117200-57117600	Enhancers	Lung	lung
20	chr11:57117200-57117600	Genic enhancers	Right Atrium	heart
21	chr11:57117200-57117600	Enhancers	Right Ventricle	heart
22	chr11:57117200-57117800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr11:57117200-57117800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr11:57117200-57117800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr11:57117200-57117800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:57117200-57117800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:57117200-57117800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:57117200-57117800	Active TSS	Brain Anterior Caudate	brain
29	chr11:57117200-57117800	Enhancers	Colon Smooth Muscle	Colon
30	chr11:57117200-57117800	Enhancers	Fetal Stomach	stomach
31	chr11:57117200-57117800	Enhancers	Stomach Mucosa	stomach
32	chr11:57117200-57117800	Enhancers	Dnd41	blood
33	chr11:57117400-57117600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr11:57117400-57117600	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:57117400-57117600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:57117400-57117600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:57117400-57117600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
38	chr11:57117400-57117600	Bivalent/Poised TSS	HepG2	liver
39	chr11:57117400-57117800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr11:57117400-57117800	Active TSS	Brain Hippocampus Middle	brain
41	chr11:57117400-57117800	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr11:57117400-57117800	Enhancers	A549	lung
43	chr11:57117400-57117800	Active TSS	Hela-S3	cervix
44	chr11:57117400-57120200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:57117400-57120400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:57117400-57120400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:57117400-57120400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:57117400-57120600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:57117400-57120800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr11:57117400-57122000	Weak transcription	Pancreas	Pancrea

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