Variant report

Variant	rs368127086
Chromosome Location	chr11:57297569-57297570
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57296541..57298189-chr11:57320767..57323633,2	K562	blood:
2	chr11:57082825..57084947-chr11:57296049..57298062,2	K562	blood:
3	chr11:57296819..57301795-chr11:57434465..57437903,4	K562	blood:
4	chr11:57279697..57283964-chr11:57296063..57300992,5	K562	blood:
5	chr11:57279377..57284601-chr11:57296598..57300992,7	K562	blood:
6	chr11:57190585..57193869-chr11:57296385..57298665,4	K562	blood:
7	chr11:57280118..57282048-chr11:57295886..57298266,2	MCF-7	breast:
8	chr11:57294877..57297638-chr11:57477867..57480575,2	K562	blood:
9	chr11:57190585..57194081-chr11:57295965..57298665,6	K562	blood:
10	chr11:57297015..57298977-chr11:58345779..58348496,3	K562	blood:
11	chr11:57259488..57262312-chr11:57297158..57299801,2	K562	blood:
12	chr11:57296138..57298827-chr11:57479075..57481840,2	K562	blood:
13	chr11:57225517..57229165-chr11:57295790..57298188,3	K562	blood:
14	chr11:57296719..57299374-chr11:57308110..57310728,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214872	Chromatin interaction
ENSG00000213593	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000186660	Chromatin interaction
ENSG00000186907	Chromatin interaction
ENSG00000254979	Chromatin interaction
ENSG00000255073	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000134802	Chromatin interaction
ENSG00000156599	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	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
2	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
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1052073	chr11:57297499-57362802	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541050	chr11:57297499-57362802	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57292600-57297600	Weak transcription	Aorta	Aorta
2	chr11:57296400-57297600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:57296600-57297600	Enhancers	Spleen	Spleen
4	chr11:57296600-57298000	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr11:57296800-57297600	Transcr. at gene 5' and 3'	K562	blood
6	chr11:57296800-57298200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:57296800-57298200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:57297000-57297600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:57297000-57297600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:57297000-57297600	Enhancers	Small Intestine	intestine
11	chr11:57297000-57297600	Enhancers	Stomach Mucosa	stomach
12	chr11:57297000-57297800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:57297000-57297800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:57297000-57297800	Flanking Active TSS	HMEC	breast
15	chr11:57297000-57297800	Flanking Active TSS	NHEK	skin
16	chr11:57297000-57298000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr11:57297000-57298200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:57297000-57299200	Active TSS	H1 Cell Line	embryonic stem cell
19	chr11:57297200-57297600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:57297200-57297600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:57297200-57297600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr11:57297200-57297600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:57297200-57297600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:57297200-57297600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:57297200-57297600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:57297200-57297600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:57297200-57297600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr11:57297200-57297600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:57297200-57297600	Enhancers	Fetal Heart	heart
30	chr11:57297200-57297600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:57297200-57297600	Flanking Active TSS	HepG2	liver
32	chr11:57297200-57297800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr11:57297200-57297800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:57297200-57297800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:57297200-57297800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr11:57297200-57297800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr11:57297200-57297800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:57297200-57297800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:57297200-57297800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:57297200-57297800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:57297200-57297800	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr11:57297200-57297800	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr11:57297200-57297800	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr11:57297200-57297800	Flanking Active TSS	Fetal Brain Female	brain
45	chr11:57297200-57297800	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr11:57297200-57297800	Flanking Active TSS	Fetal Lung	lung
47	chr11:57297200-57297800	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr11:57297200-57297800	Flanking Active TSS	Hela-S3	cervix
49	chr11:57297200-57297800	Flanking Active TSS	HSMM	muscle
50	chr11:57297200-57297800	Flanking Active TSS	NHDF-Ad	bronchial

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