Variant report

Variant	rs192133351
Chromosome Location	chr11:57467179-57467180
allele	A/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57464857..57467583-chr11:57469531..57471627,4	K562	blood:
2	chr11:57465191..57468347-chr11:57478149..57481711,3	K562	blood:
3	chr11:57433359..57435481-chr11:57466980..57468619,2	K562	blood:
4	chr11:57436045..57439920-chr11:57463580..57467800,3	K562	blood:
5	chr11:57464857..57467583-chr11:57469531..57471287,2	K562	blood:
6	chr11:57463417..57465032-chr11:57465221..57467463,2	K562	blood:
7	chr11:57461028..57463369-chr11:57466408..57468235,2	MCF-7	breast:
8	chr11:57466742..57469032-chr11:57508887..57511436,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213593	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000254732	Chromatin interaction
ENSG00000156599	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh 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	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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 target site	58 gene(s)	inside rSNPs	diseases
8	nsv975360	chr11:57466716-57480320	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57436600-57479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57438600-57469400	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr11:57438600-57478200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:57438800-57469600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr11:57438800-57473800	Strong transcription	Fetal Muscle Trunk	muscle
6	chr11:57439000-57469400	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:57439000-57473400	Strong transcription	Fetal Thymus	thymus
8	chr11:57439000-57477400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:57439200-57469600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:57439400-57473000	Strong transcription	Placenta	Placenta
11	chr11:57439800-57473400	Strong transcription	Fetal Muscle Leg	muscle
12	chr11:57442800-57472800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:57443200-57472600	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:57446600-57474200	Strong transcription	Fetal Intestine Large	intestine
15	chr11:57447000-57473800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:57447800-57474200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:57448000-57472800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:57448000-57473200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:57448200-57474400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:57448400-57472600	Strong transcription	Liver	Liver
21	chr11:57448400-57472600	Strong transcription	Lung	lung
22	chr11:57448400-57472600	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:57448400-57472800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:57448400-57472800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:57448400-57473800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr11:57448600-57469800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:57448600-57476400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:57448800-57468600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:57449000-57476000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:57449200-57469200	Strong transcription	Adipose Nuclei	Adipose
31	chr11:57449400-57469200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:57449400-57474200	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:57449800-57469600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr11:57449800-57474200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:57450000-57469600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:57450400-57473800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:57450800-57469600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:57451000-57469800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:57451200-57474200	Strong transcription	Fetal Stomach	stomach
40	chr11:57451400-57472600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:57451400-57472800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:57453000-57475200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:57455600-57469400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:57455600-57472800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:57455600-57472800	Strong transcription	Left Ventricle	heart
46	chr11:57458000-57472600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:57458000-57474600	Strong transcription	Fetal Intestine Small	intestine
48	chr11:57458000-57475800	Strong transcription	Thymus	Thymus
49	chr11:57458200-57469600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr11:57458200-57472800	Strong transcription	Brain Germinal Matrix	brain

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