Variant report

Variant	rs534650251
Chromosome Location	chr11:45925835-45925836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45867027..45870378-chr11:45924400..45927960,4	K562	blood:
2	chr11:45924750..45927395-chr11:45942360..45945085,3	K562	blood:
3	chr11:45925111..45927750-chr11:45943585..45946023,2	K562	blood:
4	chr11:45921817..45923409-chr11:45925394..45927956,2	K562	blood:

Variant related genes	Relation type
ENSG00000165905	Chromatin interaction
ENSG00000121671	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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807609	chr11:45915859-45940195	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv1798496	chr11:45925495-45948304	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45921400-45933000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:45921600-45931400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:45922200-45931800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:45922400-45934800	Weak transcription	A549	lung
5	chr11:45922600-45929400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:45922600-45930600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:45922600-45930800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:45922600-45931400	Weak transcription	Aorta	Aorta
9	chr11:45922600-45932400	Weak transcription	Hela-S3	cervix
10	chr11:45922600-45932400	Weak transcription	Osteobl	bone
11	chr11:45922600-45934400	Weak transcription	HMEC	breast
12	chr11:45922600-45938400	Weak transcription	Fetal Kidney	kidney
13	chr11:45922800-45926000	Weak transcription	NHLF	lung
14	chr11:45922800-45928600	Weak transcription	Esophagus	oesophagus
15	chr11:45922800-45930000	Weak transcription	Left Ventricle	heart
16	chr11:45922800-45930400	Weak transcription	Liver	Liver
17	chr11:45923000-45927600	Weak transcription	Colonic Mucosa	Colon
18	chr11:45923000-45930600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:45923000-45938000	Weak transcription	NHDF-Ad	bronchial
20	chr11:45923000-45938400	Weak transcription	Right Atrium	heart
21	chr11:45923200-45927800	Strong transcription	Ovary	ovary
22	chr11:45923200-45931200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:45923200-45932200	Weak transcription	HSMM	muscle
24	chr11:45923200-45935600	Weak transcription	NH-A	brain
25	chr11:45923400-45927400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:45923400-45929200	Strong transcription	Fetal Stomach	stomach
27	chr11:45923400-45929600	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:45923400-45931600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:45923400-45932000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:45923400-45932400	Weak transcription	HepG2	liver
31	chr11:45923400-45934800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:45923600-45927200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:45923600-45927400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:45923600-45928600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:45923600-45928800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:45923600-45929600	Weak transcription	Fetal Brain Male	brain
37	chr11:45923600-45936600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:45923800-45927000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:45923800-45927200	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr11:45923800-45927200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:45923800-45928400	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:45923800-45928800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:45923800-45929600	Strong transcription	Brain Germinal Matrix	brain
44	chr11:45924000-45926200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:45924000-45927000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr11:45924000-45927600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:45924000-45928200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:45924000-45928200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr11:45924200-45926400	Strong transcription	Lung	lung
50	chr11:45924200-45926600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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