Variant report

Variant	rs569197070
Chromosome Location	chr22:29074911-29074912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29069948..29071525-chr22:29073386..29075260,2	K562	blood:
2	chr22:29074345..29076106-chr22:29137826..29140000,2	K562	blood:

Variant related genes	Relation type
ENSG00000183765	Chromatin interaction
ENSG00000100209	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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
11	esv1832949	chr22:29072426-29092190	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1806615	chr22:29072426-29095085	Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv1828355	chr22:29072426-29095085	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv1843637	chr22:29072426-29095085	Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1832454	chr22:29074021-29094885	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29074200-29075000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:29074200-29076400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:29074400-29075000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr22:29074400-29075000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:29074400-29075000	Active TSS	Brain Germinal Matrix	brain
6	chr22:29074400-29075200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
7	chr22:29074400-29076400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:29074400-29076400	Active TSS	Brain Angular Gyrus	brain
9	chr22:29074400-29076400	Active TSS	Fetal Brain Female	brain
10	chr22:29074400-29076400	Active TSS	Hela-S3	cervix
11	chr22:29074400-29076400	Active TSS	NHDF-Ad	bronchial
12	chr22:29074400-29076600	Active TSS	Brain Anterior Caudate	brain
13	chr22:29074600-29075000	Flanking Active TSS	Fetal Stomach	stomach
14	chr22:29074600-29075000	Active TSS	Stomach Smooth Muscle	stomach
15	chr22:29074600-29075000	Active TSS	HepG2	liver
16	chr22:29074600-29075000	Flanking Active TSS	K562	blood
17	chr22:29074600-29075200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:29074600-29075200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr22:29074600-29075200	Active TSS	Rectal Smooth Muscle	rectum
20	chr22:29074600-29076200	Active TSS	Fetal Lung	lung
21	chr22:29074600-29076400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:29074600-29076400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr22:29074600-29076400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:29074600-29076400	Active TSS	Ovary	ovary
25	chr22:29074600-29076400	Active TSS	A549	lung
26	chr22:29074600-29076400	Active TSS	HUVEC	blood vessel
27	chr22:29074600-29076400	Active TSS	NHLF	lung
28	chr22:29074600-29076400	Active TSS	Osteobl	bone
29	chr22:29074600-29076600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:29074600-29076600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr22:29074600-29076800	Active TSS	Colon Smooth Muscle	Colon
32	chr22:29074800-29075000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:29074800-29075000	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr22:29074800-29075000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr22:29074800-29075000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr22:29074800-29075000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr22:29074800-29075000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr22:29074800-29075000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
39	chr22:29074800-29075000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr22:29074800-29075000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:29074800-29075000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:29074800-29075000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:29074800-29075000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr22:29074800-29075000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:29074800-29075000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr22:29074800-29075000	Flanking Active TSS	Fetal Brain Male	brain
47	chr22:29074800-29075000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
48	chr22:29074800-29075000	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr22:29074800-29075000	Enhancers	Gastric	stomach
50	chr22:29074800-29075000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum

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