Variant report

Variant	rs574879066
Chromosome Location	chr22:30280626-30280627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30229506..30231085-chr22:30279535..30281040,2	MCF-7	breast:
2	chr22:30208243..30210090-chr22:30279066..30280884,2	MCF-7	breast:
3	chr22:30280125..30281940-chr22:30289079..30291294,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1833221	chr22:30274129-30297376	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv829161	chr22:30276811-30298332	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv829162	chr22:30276811-30298761	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv11554	chr22:30280400-30298271	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30278600-30281400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr22:30278800-30280800	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr22:30278800-30280800	Active TSS	HepG2	liver
4	chr22:30278800-30280800	Active TSS	HMEC	breast
5	chr22:30278800-30280800	Active TSS	HSMM	muscle
6	chr22:30278800-30281000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr22:30278800-30281200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:30278800-30281200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr22:30278800-30281200	Active TSS	Stomach Smooth Muscle	stomach
10	chr22:30278800-30282200	Active TSS	GM12878-XiMat	blood
11	chr22:30279000-30280800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:30279000-30280800	Active TSS	Right Ventricle	heart
13	chr22:30279000-30280800	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr22:30279000-30281000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:30279000-30281200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:30279600-30282400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr22:30279800-30280800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr22:30279800-30281200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:30280000-30280800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:30280000-30280800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:30280000-30280800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:30280000-30280800	Flanking Active TSS	Dnd41	blood
23	chr22:30280000-30283400	Weak transcription	Esophagus	oesophagus
24	chr22:30280000-30283400	Weak transcription	Pancreas	Pancrea
25	chr22:30280000-30286200	Weak transcription	Gastric	stomach
26	chr22:30280200-30280800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:30280200-30281000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr22:30280200-30281000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr22:30280200-30281000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr22:30280200-30281000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr22:30280200-30281200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr22:30280200-30281400	Enhancers	Primary B cells from peripheral blood	blood
33	chr22:30280200-30281800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr22:30280200-30281800	Enhancers	Placenta	Placenta
35	chr22:30280200-30282000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr22:30280200-30282200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:30280200-30282600	Enhancers	Colon Smooth Muscle	Colon
38	chr22:30280200-30282600	Enhancers	Fetal Brain Male	brain
39	chr22:30280200-30283800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr22:30280200-30283800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr22:30280200-30283800	Enhancers	Fetal Heart	heart
42	chr22:30280200-30283800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr22:30280200-30284000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr22:30280200-30293600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
46	chr22:30280400-30280800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr22:30280400-30280800	Active TSS	Brain Anterior Caudate	brain
48	chr22:30280400-30280800	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr22:30280400-30280800	Enhancers	Fetal Thymus	thymus
50	chr22:30280400-30280800	Enhancers	Rectal Mucosa Donor 31	rectum

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