Variant report

Variant	rs576374758
Chromosome Location	chr22:29070792-29070793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29068475..29070803-chr22:29136306..29139155,2	K562	blood:
2	chr22:29068301..29072007-chr22:29167336..29171119,3	K562	blood:
3	chr22:29051030..29053991-chr22:29069549..29071319,2	K562	blood:
4	chr22:29069948..29071525-chr22:29073386..29075260,2	K562	blood:

Variant related genes	Relation type
ENSG00000100209	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000159873	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv459867	chr22:28993183-29109036	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv588881	chr22:28993183-29109036	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1061684	chr22:29026341-29088590	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1064624	chr22:29065528-29130728	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
8	esv17527	chr22:29066121-29102976	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv966098	chr22:29069640-29088208	Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv966097	chr22:29069640-29092062	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29046400-29073800	Weak transcription	Ovary	ovary
2	chr22:29052600-29074600	Weak transcription	Colon Smooth Muscle	Colon
3	chr22:29056800-29074600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:29064600-29074800	Weak transcription	Left Ventricle	heart
5	chr22:29067000-29074400	Weak transcription	Fetal Lung	lung
6	chr22:29067200-29073800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:29067200-29074400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:29067600-29074400	Weak transcription	Fetal Brain Female	brain
9	chr22:29067800-29074400	Weak transcription	HepG2	liver
10	chr22:29068800-29070800	Bivalent Enhancer	Dnd41	blood
11	chr22:29068800-29071400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
12	chr22:29068800-29071400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
13	chr22:29068800-29071400	Enhancers	GM12878-XiMat	blood
14	chr22:29069200-29071000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:29069400-29070800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr22:29069400-29071000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:29069400-29071200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr22:29069400-29071200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr22:29069400-29071400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
20	chr22:29069600-29070800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr22:29069600-29071000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
22	chr22:29069600-29071400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:29069600-29071400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:29069800-29071000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr22:29069800-29071000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr22:29069800-29071200	Enhancers	Primary B cells from peripheral blood	blood
27	chr22:29069800-29071400	Bivalent Enhancer	Primary B cells from cord blood	blood
28	chr22:29069800-29071400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
29	chr22:29069800-29072600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:29070200-29071600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr22:29070400-29070800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr22:29070400-29070800	Bivalent Enhancer	Fetal Thymus	thymus
33	chr22:29070400-29070800	Flanking Active TSS	NHDF-Ad	bronchial
34	chr22:29070400-29071200	Bivalent Enhancer	Primary T cells from cord blood	blood
35	chr22:29070400-29071400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr22:29070600-29071200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:29070600-29071600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
38	chr22:29070600-29071800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
39	chr22:29070600-29072400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr22:29070600-29074400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:29070600-29074400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:29070600-29074400	Weak transcription	HUVEC	blood vessel
43	chr22:29070600-29074600	Weak transcription	K562	blood
44	chr22:29070600-29074600	Weak transcription	NHLF	lung
45	chr22:29070600-29074600	Weak transcription	Osteobl	bone

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