Variant report

Variant	rs372703931
Chromosome Location	chr9:22006511-22006512
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	CEBPB	chr9:22006272-22006564	H1-hESC	embryonic stem cell:	n/a	chr9:22006407-22006418
2	POLR2A	chr9:22005001-22006524	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr9:22006250-22006572	Hela-S3	cervix:	n/a	chr9:22006407-22006418
4	CEBPB	chr9:22006263-22006559	IMR90	lung:	n/a	chr9:22006407-22006418
5	POLR2A	chr9:22004975-22006563	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:22005608..22009530-chr9:22211237..22215024,4	MCF-7	breast:

Variant related genes	Relation type
CDKN2B	TF binding region
ENSG00000236921	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:50 , 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	chr9:22003800-22006800	Transcr. at gene 5' and 3'	NH-A	brain
4	chr9:22004800-22006600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:22005000-22006600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr9:22005000-22006600	Transcr. at gene 5' and 3'	Hela-S3	cervix
7	chr9:22005000-22008400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr9:22005200-22006600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr9:22005200-22006800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr9:22005400-22006600	Flanking Active TSS	NHEK	skin
11	chr9:22005400-22006800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:22005400-22006800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:22005400-22007200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
14	chr9:22005600-22009400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:22005800-22006600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr9:22005800-22006600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr9:22005800-22006600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:22005800-22007400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:22005800-22009800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:22006000-22006600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:22006000-22006600	Active TSS	Osteobl	bone
22	chr9:22006200-22006600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
23	chr9:22006200-22006800	Enhancers	NHDF-Ad	bronchial
24	chr9:22006200-22008000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:22006200-22008600	Weak transcription	Gastric	stomach
26	chr9:22006200-22008600	Weak transcription	Lung	lung
27	chr9:22006200-22008800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:22006200-22009600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:22006400-22006600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
30	chr9:22006400-22006600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr9:22006400-22006600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:22006400-22006600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr9:22006400-22006600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr9:22006400-22006600	Bivalent Enhancer	Fetal Intestine Small	intestine
35	chr9:22006400-22006600	Flanking Active TSS	NHLF	lung
36	chr9:22006400-22007000	Flanking Active TSS	Dnd41	blood
37	chr9:22006400-22007400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:22006400-22007400	Active TSS	Esophagus	oesophagus
39	chr9:22006400-22007600	Weak transcription	HSMM	muscle
40	chr9:22006400-22008000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:22006400-22008000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:22006400-22008200	Active TSS	Adipose Nuclei	Adipose
43	chr9:22006400-22008400	Weak transcription	Right Ventricle	heart
44	chr9:22006400-22008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:22006400-22008600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:22006400-22008600	Weak transcription	Pancreas	Pancrea
47	chr9:22006400-22009400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr9:22006400-22009400	Active TSS	HMEC	breast
49	chr9:22006400-22010000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr9:22006400-22010000	Active TSS	HSMMtube	muscle

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