Variant report

Variant	rs2148860
Chromosome Location	chr9:72732428-72732429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72726384..72729356-chr9:72732064..72734127,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204706	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10511981	0.98[EUR][1000 genomes]
rs10735584	1.00[EUR][1000 genomes]
rs1927097	0.83[AMR][1000 genomes]
rs1927108	1.00[EUR][1000 genomes]
rs1927109	0.98[EUR][1000 genomes]
rs1927112	0.98[EUR][1000 genomes]
rs1927114	0.90[EUR][1000 genomes]
rs1927123	0.90[EUR][1000 genomes]
rs1998972	0.98[EUR][1000 genomes]
rs2309601	0.90[EUR][1000 genomes]
rs3015233	0.81[EUR][1000 genomes]
rs4744587	0.81[EUR][1000 genomes]
rs4744980	0.98[EUR][1000 genomes]
rs4744985	0.90[EUR][1000 genomes]
rs7020575	0.90[EUR][1000 genomes]
rs7848955	0.90[EUR][1000 genomes]
rs7857325	0.98[EUR][1000 genomes]
rs7865289	0.90[EUR][1000 genomes]
rs943538	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831613	chr9:72586058-72740061	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv949052	chr9:72698039-72741247	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72714800-72742400	Weak transcription	Aorta	Aorta
2	chr9:72722000-72758400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:72724400-72742600	Weak transcription	Right Ventricle	heart
4	chr9:72725200-72735800	Weak transcription	Fetal Brain Male	brain
5	chr9:72725600-72735400	Weak transcription	Right Atrium	heart
6	chr9:72725600-72740400	Weak transcription	Fetal Lung	lung
7	chr9:72725600-72745200	Weak transcription	Lung	lung
8	chr9:72725800-72742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:72725800-72764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:72726000-72734600	Weak transcription	Adipose Nuclei	Adipose
11	chr9:72726000-72735800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr9:72726200-72741000	Weak transcription	Fetal Stomach	stomach
13	chr9:72726200-72749200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr9:72726800-72734800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:72727000-72740400	Weak transcription	Esophagus	oesophagus
17	chr9:72727000-72776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr9:72727200-72735600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:72727200-72737800	Weak transcription	Pancreas	Pancrea
20	chr9:72727200-72746600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:72728200-72732800	Strong transcription	HSMMtube	muscle
22	chr9:72728200-72752800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr9:72728200-72758400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:72728400-72735000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:72728400-72735200	Strong transcription	Colon Smooth Muscle	Colon
26	chr9:72728400-72735200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr9:72728600-72740400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr9:72728600-72746800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr9:72728800-72732600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:72728800-72732600	Weak transcription	HepG2	liver
31	chr9:72728800-72732800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:72728800-72732800	Weak transcription	Stomach Mucosa	stomach
33	chr9:72728800-72735400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr9:72728800-72735800	Weak transcription	Fetal Muscle Leg	muscle
35	chr9:72729200-72744800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr9:72729800-72734600	Weak transcription	Ovary	ovary
37	chr9:72730000-72732800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr9:72730000-72733400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr9:72730000-72734400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:72730000-72734600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:72730200-72732800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:72730200-72733600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr9:72730600-72733800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:72730600-72737400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr9:72730800-72734000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:72730800-72737400	Enhancers	NHEK	skin
47	chr9:72730800-72738000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:72731200-72732600	Weak transcription	NH-A	brain
49	chr9:72731200-72735800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr9:72731200-72735800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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