Variant report

Variant	rs544222130
Chromosome Location	chr9:108220702-108220703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:108219652..108221418-chr9:108230487..108232069,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1053973	chr9:108199177-108300186	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv615115	chr9:108205262-108298183	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv893692	chr9:108218852-108320988	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
5	nsv1050141	chr9:108219667-108317424	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108211000-108248000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:108211400-108222000	Weak transcription	Stomach Mucosa	stomach
3	chr9:108211800-108227000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:108212200-108234800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:108212800-108226600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:108214400-108221000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:108214400-108227200	Weak transcription	Fetal Kidney	kidney
8	chr9:108214600-108221000	Weak transcription	Small Intestine	intestine
9	chr9:108214600-108309800	Weak transcription	HUVEC	blood vessel
10	chr9:108218800-108221200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:108218800-108221200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr9:108219000-108221600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:108219200-108221200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:108219200-108221200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr9:108219200-108221400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:108219400-108220800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:108219600-108221200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:108219600-108221400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr9:108219800-108221000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:108219800-108221000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:108219800-108221000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:108219800-108221000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:108219800-108221000	ZNF genes & repeats	Fetal Intestine Large	intestine
24	chr9:108219800-108221000	ZNF genes & repeats	Lung	lung
25	chr9:108219800-108221000	ZNF genes & repeats	Dnd41	blood
26	chr9:108219800-108221200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr9:108219800-108221200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:108219800-108221200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:108219800-108221200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:108219800-108221200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:108220000-108220800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:108220000-108220800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr9:108220000-108220800	Enhancers	Esophagus	oesophagus
34	chr9:108220000-108220800	Enhancers	Right Atrium	heart
35	chr9:108220000-108220800	Strong transcription	A549	lung
36	chr9:108220000-108220800	ZNF genes & repeats	NHLF	lung
37	chr9:108220000-108221000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr9:108220000-108221000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:108220000-108221000	ZNF genes & repeats	Fetal Stomach	stomach
40	chr9:108220000-108221000	Enhancers	Gastric	stomach
41	chr9:108220000-108221000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr9:108220000-108221000	ZNF genes & repeats	NHDF-Ad	bronchial
43	chr9:108220000-108221000	ZNF genes & repeats	NHEK	skin
44	chr9:108220000-108221200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr9:108220000-108221200	ZNF genes & repeats	Fetal Brain Female	brain
46	chr9:108220000-108221200	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr9:108220000-108221400	Enhancers	Right Ventricle	heart
48	chr9:108220200-108221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr9:108220200-108221000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:108220200-108221000	ZNF genes & repeats	Adipose Nuclei	Adipose

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