Variant report

Variant	rs10511981
Chromosome Location	chr9:72739478-72739479
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	chr9:72738878..72740762-chr9:72748344..72751164,2	MCF-7	breast:
2	chr9:72733654..72736603-chr9:72737665..72741649,3	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10114223	0.83[AMR][1000 genomes]
rs10735584	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10868800	1.00[GIH][hapmap];0.87[TSI][hapmap]
rs1180089	1.00[GIH][hapmap];0.87[TSI][hapmap]
rs1180100	0.92[GIH][hapmap]
rs1927108	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1927109	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1927112	1.00[EUR][1000 genomes]
rs1927114	0.93[EUR][1000 genomes]
rs1927123	0.93[EUR][1000 genomes]
rs1927140	0.83[AMR][1000 genomes]
rs1927141	0.83[AMR][1000 genomes]
rs1927146	0.83[AMR][1000 genomes]
rs1998972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2148854	0.83[AMR][1000 genomes]
rs2148855	0.83[AMR][1000 genomes]
rs2148860	0.98[EUR][1000 genomes]
rs2209781	0.83[AMR][1000 genomes]
rs2309601	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2309637	0.83[AMR][1000 genomes]
rs2309645	1.00[GIH][hapmap]
rs2975880	0.81[AFR][1000 genomes]
rs2997683	0.84[GIH][hapmap]
rs2997714	0.83[AFR][1000 genomes]
rs3015180	0.81[AFR][1000 genomes]
rs3015207	0.81[AFR][1000 genomes]
rs3015213	0.81[AFR][1000 genomes]
rs3015215	0.84[GIH][hapmap]
rs4744587	0.84[EUR][1000 genomes]
rs4744980	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4744985	0.93[EUR][1000 genomes]
rs7020575	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7848955	0.93[EUR][1000 genomes]
rs7857325	1.00[EUR][1000 genomes]
rs7865289	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs943535	1.00[GIH][hapmap];0.87[TSI][hapmap]
rs943538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:65 , 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	chr9:72725600-72740400	Weak transcription	Fetal Lung	lung
5	chr9:72725600-72745200	Weak transcription	Lung	lung
6	chr9:72725800-72742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:72725800-72764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:72726200-72741000	Weak transcription	Fetal Stomach	stomach
9	chr9:72726200-72749200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:72727000-72740400	Weak transcription	Esophagus	oesophagus
12	chr9:72727000-72776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:72727200-72746600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:72728200-72752800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:72728200-72758400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:72728600-72740400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:72728600-72746800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr9:72729200-72744800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:72731200-72768400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:72733200-72741000	Weak transcription	Left Ventricle	heart
21	chr9:72733200-72745000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr9:72733800-72748400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:72736000-72740800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:72736200-72740800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:72736200-72741000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:72736200-72741000	Weak transcription	Right Atrium	heart
27	chr9:72736200-72745000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr9:72736200-72746000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:72736200-72747400	Weak transcription	Fetal Muscle Leg	muscle
30	chr9:72736200-72748800	Weak transcription	Fetal Brain Female	brain
31	chr9:72736200-72761200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr9:72736400-72740400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr9:72736400-72741200	Weak transcription	Psoas Muscle	Psoas
34	chr9:72736600-72740200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr9:72736600-72744600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr9:72737000-72744200	Strong transcription	Colon Smooth Muscle	Colon
37	chr9:72737000-72748000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr9:72737200-72739600	Weak transcription	Adipose Nuclei	Adipose
39	chr9:72737200-72745200	Strong transcription	HSMMtube	muscle
40	chr9:72737400-72739800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:72737400-72739800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:72737400-72740000	Weak transcription	NHEK	skin
43	chr9:72737400-72740600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr9:72737400-72740800	Weak transcription	NHLF	lung
45	chr9:72737400-72741000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:72737400-72741200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:72737400-72741200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr9:72737600-72740000	Weak transcription	HMEC	breast
49	chr9:72737600-72741000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:72737600-72741200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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