Variant report

Variant	rs551294765
Chromosome Location	chr9:116364309-116364310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116353752..116357757-chr9:116360190..116364418,7	K562	blood:
2	chr9:116348874..116350912-chr9:116362853..116364416,2	MCF-7	breast:
3	chr9:116357889..116361731-chr9:116362609..116366505,5	MCF-7	breast:
4	chr9:116343200..116345201-chr9:116363106..116364913,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
6	nsv466509	chr9:116356516-116396098	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv615216	chr9:116356516-116396098	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv466510	chr9:116363877-116397397	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv615217	chr9:116363877-116397397	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116357400-116364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:116357400-116364800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr9:116357800-116364400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:116358000-116371800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:116359800-116364400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:116360200-116365400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr9:116360200-116366400	Enhancers	Placenta	Placenta
8	chr9:116360400-116364400	Weak transcription	Small Intestine	intestine
9	chr9:116360400-116364600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:116360400-116364600	Weak transcription	Fetal Brain Female	brain
11	chr9:116360400-116371800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:116360600-116365800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr9:116360600-116366000	Enhancers	Right Ventricle	heart
14	chr9:116360800-116364400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:116360800-116366000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:116360800-116366000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr9:116360800-116366000	Enhancers	NHDF-Ad	bronchial
18	chr9:116360800-116366600	Enhancers	Liver	Liver
19	chr9:116361000-116364400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr9:116361000-116364400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:116361000-116364400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr9:116361000-116364600	Weak transcription	Brain Germinal Matrix	brain
23	chr9:116361000-116364600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:116361000-116365600	Enhancers	Left Ventricle	heart
25	chr9:116361000-116366400	Enhancers	Fetal Muscle Leg	muscle
26	chr9:116361200-116365600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:116361200-116365800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:116361200-116366600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr9:116361400-116366000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:116361400-116366000	Enhancers	Fetal Lung	lung
31	chr9:116361400-116367000	Enhancers	Adipose Nuclei	Adipose
32	chr9:116361600-116364800	Enhancers	Spleen	Spleen
33	chr9:116361600-116365000	Enhancers	HSMM	muscle
34	chr9:116361600-116365600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr9:116361800-116365000	Enhancers	HUVEC	blood vessel
36	chr9:116361800-116365200	Enhancers	HSMMtube	muscle
37	chr9:116362000-116366000	Enhancers	HMEC	breast
38	chr9:116362000-116366600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr9:116362200-116365800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:116362400-116364600	Weak transcription	Fetal Brain Male	brain
41	chr9:116362400-116364800	Enhancers	Brain Anterior Caudate	brain
42	chr9:116362400-116365400	Enhancers	Osteobl	bone
43	chr9:116362400-116365600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:116362400-116366000	Enhancers	Fetal Muscle Trunk	muscle
45	chr9:116362400-116366400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:116362600-116364600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr9:116362600-116365200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr9:116362600-116365600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr9:116362800-116365000	Enhancers	Lung	lung
50	chr9:116362800-116365200	Enhancers	Ovary	ovary

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