Variant report

Variant	rs545341652
Chromosome Location	chr9:22118444-22118445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22106343..22112134-chr9:22114356..22121456,14	MCF-7	breast:
2	chr9:22118416..22121118-chr9:22207719..22210704,4	MCF-7	breast:
3	chr9:22113925..22116012-chr9:22117761..22119700,2	MCF-7	breast:
4	chr9:22117390..22119557-chr9:22241595..22244405,2	MCF-7	breast:
5	chr9:22117626..22120036-chr9:22123513..22125253,2	MCF-7	breast:
6	chr9:22081254..22084984-chr9:22116484..22118588,4	MCF-7	breast:
7	chr9:22117118..22121296-chr9:22132550..22137842,5	MCF-7	breast:
8	chr9:22006677..22008959-chr9:22118289..22120923,3	MCF-7	breast:
9	chr9:22117727..22120443-chr9:22236352..22239028,4	MCF-7	breast:
10	chr9:22080912..22082747-chr9:22118308..22120981,2	MCF-7	breast:
11	chr9:22117726..22119533-chr9:22245234..22247793,2	MCF-7	breast:
12	chr9:22117114..22119217-chr9:22236717..22238636,2	MCF-7	breast:
13	chr9:22117582..22119733-chr9:22124572..22127238,3	MCF-7	breast:
14	chr9:22118293..22119936-chr9:22134631..22137538,2	MCF-7	breast:
15	chr9:22084984..22089844-chr9:22117518..22121243,5	MCF-7	breast:
16	chr9:22116649..22120343-chr9:22129230..22133367,5	MCF-7	breast:
17	chr9:22118013..22119873-chr9:22212335..22214736,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTAP-1	chr9:22112761-22118822	NONHSAT130433

No data

Variant related genes	Relation type
ENSG00000147883	Chromatin interaction
ENSG00000236921	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	nsv1029889	chr9:22118046-22161828	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22097800-22122400	Weak transcription	Dnd41	blood
2	chr9:22113400-22119800	Weak transcription	Small Intestine	intestine
3	chr9:22115000-22119600	Enhancers	NHLF	lung
4	chr9:22116200-22119600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:22116400-22119800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:22116600-22119000	Enhancers	NHDF-Ad	bronchial
7	chr9:22116600-22119400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:22116600-22119400	Enhancers	HSMM	muscle
9	chr9:22116600-22119600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:22116600-22119800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:22116600-22119800	Enhancers	Osteobl	bone
12	chr9:22116600-22120400	Enhancers	Fetal Intestine Small	intestine
13	chr9:22116800-22119000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:22116800-22119000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr9:22116800-22119600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:22117000-22118600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr9:22117200-22118800	Enhancers	HepG2	liver
18	chr9:22117200-22119000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:22117200-22119000	Enhancers	HSMMtube	muscle
20	chr9:22117200-22119600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:22117200-22119800	Enhancers	NHEK	skin
22	chr9:22117200-22120400	Enhancers	Fetal Intestine Large	intestine
23	chr9:22117400-22118600	Flanking Active TSS	Hela-S3	cervix
24	chr9:22117400-22119200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr9:22117400-22119400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:22117400-22119800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:22117400-22120000	Enhancers	Stomach Mucosa	stomach
28	chr9:22117600-22119600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:22117600-22119800	Enhancers	HMEC	breast
30	chr9:22117800-22118600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr9:22117800-22118600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr9:22118000-22118600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:22118000-22119000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr9:22118000-22119000	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr9:22118000-22119200	Weak transcription	Fetal Kidney	kidney
36	chr9:22118000-22119600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr9:22118000-22119600	Enhancers	HUVEC	blood vessel
38	chr9:22118200-22119200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr9:22118200-22119400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr9:22118200-22119400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr9:22118200-22120000	Enhancers	NH-A	brain
42	chr9:22118200-22121200	Weak transcription	Left Ventricle	heart
43	chr9:22118400-22118600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr9:22118400-22118800	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr9:22118400-22119400	Weak transcription	Colonic Mucosa	Colon

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