Variant report

Variant	rs555886990
Chromosome Location	chr9:22007692-22007693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:22007656-22009795	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:22005608..22009530-chr9:22211237..22215024,4	MCF-7	breast:
2	chr9:21992827..21995558-chr9:22007456..22010608,5	MCF-7	breast:
3	chr9:21800247..21802715-chr9:22007122..22010872,3	MCF-7	breast:
4	chr9:22007147..22011040-chr9:22011810..22014340,4	MCF-7	breast:
5	chr9:22007424..22010079-chr9:22214224..22216298,2	MCF-7	breast:

Variant related genes	Relation type
UBA52P6	TF binding region
CDKN2B	TF binding region
ENSG00000240498	Chromatin interaction
ENSG00000099810	Chromatin interaction
ENSG00000147889	Chromatin interaction
ENSG00000266446	Chromatin interaction
ENSG00000236921	Chromatin interaction
ENSG00000215221	Chromatin interaction
ENSG00000264545	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	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv1821117	chr9:21933029-22012229	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1018514	chr9:21944275-22075326	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv892746	chr9:21953137-22028801	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv892747	chr9:21984661-22068646	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv892748	chr9:22005647-22011642	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv613760	chr9:22006269-22009960	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv973479	chr9:22006327-22010710	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21995800-22008400	Weak transcription	Aorta	Aorta
2	chr9:21996400-22007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:22005000-22008400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr9:22005600-22009400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:22005800-22009800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:22006200-22008000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr9:22006200-22008600	Weak transcription	Gastric	stomach
8	chr9:22006200-22008600	Weak transcription	Lung	lung
9	chr9:22006200-22008800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:22006200-22009600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:22006400-22008000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:22006400-22008000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:22006400-22008200	Active TSS	Adipose Nuclei	Adipose
14	chr9:22006400-22008400	Weak transcription	Right Ventricle	heart
15	chr9:22006400-22008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:22006400-22008600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:22006400-22008600	Weak transcription	Pancreas	Pancrea
18	chr9:22006400-22009400	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr9:22006400-22009400	Active TSS	HMEC	breast
20	chr9:22006400-22010000	Active TSS	Muscle Satellite Cultured Cells	--
21	chr9:22006400-22010000	Active TSS	HSMMtube	muscle
22	chr9:22006600-22009400	Active TSS	Duodenum Mucosa	Duodenum
23	chr9:22006600-22009400	Active TSS	Hela-S3	cervix
24	chr9:22006600-22009400	Active TSS	NHEK	skin
25	chr9:22006600-22009600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:22006600-22009600	Active TSS	NHLF	lung
27	chr9:22006600-22010000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:22006800-22010000	Active TSS	NH-A	brain
29	chr9:22007200-22009400	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr9:22007400-22008000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:22007400-22008000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr9:22007400-22008600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:22007400-22008600	Weak transcription	Esophagus	oesophagus
34	chr9:22007400-22008600	Genic enhancers	Dnd41	blood
35	chr9:22007400-22009600	Active TSS	NHDF-Ad	bronchial
36	chr9:22007400-22010000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr9:22007600-22007800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:22007600-22008000	Enhancers	HSMM	muscle
39	chr9:22007600-22008000	Active TSS	Osteobl	bone
40	chr9:22007600-22009600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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