Variant report

Variant	rs553897532
Chromosome Location	chr9:116249256-116249257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116240264..116245059-chr9:116245363..116250466,7	MCF-7	breast:
2	chr9:116237263..116240200-chr9:116248821..116251142,2	MCF-7	breast:
3	chr9:116245555..116247785-chr9:116248959..116250962,2	MCF-7	breast:
4	chr9:116224453..116228370-chr9:116248983..116252816,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	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
6	esv3341550	chr9:116248681-116250679	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116227400-116263800	Weak transcription	Colonic Mucosa	Colon
2	chr9:116231600-116249800	Weak transcription	Hela-S3	cervix
3	chr9:116235000-116251200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:116236200-116252400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:116239200-116250200	Weak transcription	Psoas Muscle	Psoas
6	chr9:116240400-116254600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:116241200-116252800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:116241800-116252200	Strong transcription	Fetal Intestine Small	intestine
9	chr9:116242000-116254200	Weak transcription	Brain Germinal Matrix	brain
10	chr9:116242000-116254200	Weak transcription	Fetal Thymus	thymus
11	chr9:116242000-116255200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr9:116242000-116263600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:116242000-116266200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:116242600-116254200	Weak transcription	Fetal Brain Female	brain
15	chr9:116244000-116249600	Weak transcription	Liver	Liver
16	chr9:116246400-116250400	Weak transcription	Lung	lung
17	chr9:116246600-116250600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:116246600-116254400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:116246800-116251800	Strong transcription	HepG2	liver
20	chr9:116246800-116254800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr9:116247000-116253600	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:116247000-116254600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:116247000-116254800	Weak transcription	Stomach Mucosa	stomach
24	chr9:116247200-116254600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:116248000-116250400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr9:116248000-116251400	Strong transcription	Fetal Stomach	stomach
27	chr9:116248200-116250400	Weak transcription	HSMMtube	muscle
28	chr9:116248200-116250600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:116248200-116250600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:116248200-116250800	Weak transcription	Placenta	Placenta
31	chr9:116248200-116253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:116248200-116259400	Weak transcription	Gastric	stomach
33	chr9:116248400-116250200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:116248400-116250600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr9:116248400-116250600	Weak transcription	HSMM	muscle
36	chr9:116248400-116250800	Genic enhancers	Fetal Heart	heart
37	chr9:116248600-116250200	Weak transcription	NHLF	lung
38	chr9:116248600-116261600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:116248800-116250000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr9:116248800-116250000	Weak transcription	NH-A	brain
41	chr9:116248800-116250200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr9:116248800-116250200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr9:116248800-116250200	Weak transcription	NHDF-Ad	bronchial
44	chr9:116248800-116250400	Weak transcription	Right Ventricle	heart
45	chr9:116248800-116250600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr9:116248800-116250600	Weak transcription	Esophagus	oesophagus
47	chr9:116248800-116250800	Weak transcription	Colon Smooth Muscle	Colon
48	chr9:116248800-116250800	Weak transcription	Osteobl	bone
49	chr9:116248800-116251400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr9:116248800-116253600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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