Variant report

Variant	rs143820994
Chromosome Location	chr9:110248993-110248994
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:110247849..110250590-chr9:111329415..111332131,3	MCF-7	breast:
2	chr9:110248541..110250333-chr9:110285200..110286705,2	MCF-7	breast:
3	chr9:110247080..110249421-chr9:111323616..111326393,2	MCF-7	breast:
4	chr9:110243041..110245201-chr9:110246252..110249576,3	K562	blood:
5	chr9:110246852..110249468-chr9:110266978..110269904,2	MCF-7	breast:
6	chr9:110246539..110249058-chr9:111030937..111033862,2	MCF-7	breast:
7	chr9:110246511..110249498-chr9:111190126..111191677,2	MCF-7	breast:
8	chr9:110248220..110250527-chr9:111302470..111304423,3	MCF-7	breast:
9	chr9:110246319..110249443-chr9:111522237..111525040,3	MCF-7	breast:
10	chr9:109425556..109427280-chr9:110248781..110250709,2	MCF-7	breast:
11	chr9:110247496..110249786-chr9:111257923..111260578,2	MCF-7	breast:
12	chr9:110248605..110250352-chr9:110763897..110765598,2	MCF-7	breast:
13	chr9:110248029..110249543-chr9:110331066..110332921,2	MCF-7	breast:
14	chr9:110246769..110253919-chr9:110298442..110306182,20	MCF-7	breast:
15	chr9:110246987..110249540-chr9:110886248..110888523,2	MCF-7	breast:
16	chr9:110247156..110249811-chr9:110250115..110251860,2	K562	blood:
17	chr9:110242425..110245039-chr9:110248076..110250038,3	K562	blood:
18	chr9:110247513..110249830-chr9:110339098..110341617,2	MCF-7	breast:
19	chr9:110247289..110249056-chr9:110417408..110419727,2	MCF-7	breast:
20	chr9:110248818..110250564-chr9:110802870..110804460,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227350	Chromatin interaction
ENSG00000234229	Chromatin interaction
ENSG00000136826	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv825028	chr9:110248596-110252543	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110242800-110249000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:110243000-110249600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:110244000-110249200	Weak transcription	A549	lung
4	chr9:110244000-110250400	Weak transcription	HSMMtube	muscle
5	chr9:110246000-110249000	Weak transcription	Spleen	Spleen
6	chr9:110246000-110249800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:110246200-110253800	Active TSS	Right Atrium	heart
8	chr9:110246600-110249000	Weak transcription	Brain Anterior Caudate	brain
9	chr9:110247000-110249000	Active TSS	Fetal Stomach	stomach
10	chr9:110247000-110249600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:110247000-110249800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
12	chr9:110247000-110249800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
13	chr9:110247000-110250600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:110247200-110249000	Active TSS	Colonic Mucosa	Colon
15	chr9:110247200-110249600	Transcr. at gene 5' and 3'	NHEK	skin
16	chr9:110247200-110250000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:110247200-110250400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
18	chr9:110247200-110250600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:110247200-110250800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:110247200-110254000	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr9:110247400-110249000	Active TSS	Fetal Intestine Small	intestine
22	chr9:110247400-110249200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr9:110247400-110249200	Active TSS	Right Ventricle	heart
24	chr9:110247400-110249400	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
25	chr9:110247400-110249600	Transcr. at gene 5' and 3'	Placenta Amnion	Placenta Amnion
26	chr9:110247400-110249600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
27	chr9:110247400-110249800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
28	chr9:110247400-110251400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
29	chr9:110247400-110253800	Active TSS	Psoas Muscle	Psoas
30	chr9:110247600-110250400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
31	chr9:110247600-110250600	Active TSS	Brain Hippocampus Middle	brain
32	chr9:110247600-110250600	Active TSS	Small Intestine	intestine
33	chr9:110247600-110250600	Transcr. at gene 5' and 3'	NHLF	lung
34	chr9:110247800-110249400	Active TSS	Left Ventricle	heart
35	chr9:110248000-110249000	Weak transcription	Brain Substantia Nigra	brain
36	chr9:110248000-110249000	Genic enhancers	Ovary	ovary
37	chr9:110248000-110250800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:110248200-110249000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:110248200-110249000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:110248200-110249000	Active TSS	Fetal Muscle Leg	muscle
41	chr9:110248200-110249000	Weak transcription	Gastric	stomach
42	chr9:110248200-110249000	Active TSS	Lung	lung
43	chr9:110248200-110249000	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr9:110248200-110249000	Weak transcription	Osteobl	bone
45	chr9:110248200-110250400	Weak transcription	Aorta	Aorta
46	chr9:110248400-110249000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr9:110248400-110249000	Genic enhancers	Colon Smooth Muscle	Colon
48	chr9:110248400-110249000	Active TSS	Duodenum Mucosa	Duodenum
49	chr9:110248400-110249000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr9:110248400-110249000	Active TSS	Stomach Mucosa	stomach

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