Variant report

Variant	rs527486262
Chromosome Location	chr22:29280443-29280444
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29280249..29282213-chr22:29433685..29436671,2	MCF-7	breast:
2	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:
3	chr22:29275977..29281461-chr22:29425203..29430435,9	MCF-7	breast:
4	chr22:29137399..29139735-chr22:29278518..29281229,2	MCF-7	breast:
5	chr22:29277854..29280834-chr3:15899899..15902425,2	MCF-7	breast:
6	chr22:29194507..29196726-chr22:29278986..29282462,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177993	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000206560	Chromatin interaction
ENSG00000183762	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000100209	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	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
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv3589	chr22:29265164-29288935	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3360361	chr22:29278452-29281300	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv3379535	chr22:29278477-29281525	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	esv3397718	chr22:29278952-29280850	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29278600-29280600	Active TSS	Ovary	ovary
2	chr22:29278600-29281200	Active TSS	Aorta	Aorta
3	chr22:29278600-29281200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr22:29278600-29281600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:29278600-29282600	Active TSS	Brain Anterior Caudate	brain
6	chr22:29278800-29280600	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr22:29278800-29280800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:29278800-29280800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr22:29278800-29280800	Active TSS	A549	lung
10	chr22:29278800-29281000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr22:29278800-29281200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr22:29278800-29281200	Active TSS	HSMM	muscle
13	chr22:29278800-29281600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr22:29278800-29281800	Active TSS	Fetal Kidney	kidney
15	chr22:29279000-29280600	Active TSS	H1 Cell Line	embryonic stem cell
16	chr22:29279000-29280600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:29279000-29280600	Active TSS	Brain Angular Gyrus	brain
18	chr22:29279000-29280600	Active TSS	Fetal Intestine Small	intestine
19	chr22:29279000-29280600	Active TSS	NHDF-Ad	bronchial
20	chr22:29279000-29280600	Active TSS	NHEK	skin
21	chr22:29279000-29280800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:29279000-29280800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr22:29279000-29280800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr22:29279000-29280800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:29279000-29280800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:29279000-29280800	Active TSS	Fetal Intestine Large	intestine
27	chr22:29279000-29281000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:29279000-29281000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:29279000-29281000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:29279000-29281200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:29279000-29281400	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr22:29279000-29281600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr22:29279000-29282000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:29279200-29280600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:29279200-29280600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:29279200-29280600	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr22:29279600-29280600	Active TSS	Small Intestine	intestine
38	chr22:29280000-29281200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:29280000-29281400	Flanking Active TSS	Colonic Mucosa	Colon
40	chr22:29280200-29280600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
41	chr22:29280200-29280600	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr22:29280200-29280600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr22:29280200-29280600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr22:29280200-29280600	Active TSS	Colon Smooth Muscle	Colon
45	chr22:29280200-29280600	Active TSS	Fetal Lung	lung
46	chr22:29280200-29280600	Flanking Bivalent TSS/Enh	Spleen	Spleen
47	chr22:29280200-29280600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr22:29280200-29280800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr22:29280200-29280800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
50	chr22:29280200-29280800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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