Variant report

Variant	rs12349576
Chromosome Location	chr9:72737581-72737582
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10868798	1.00[CHB][hapmap]
rs11141566	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11141672	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11141697	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11142355	1.00[CHB][hapmap]
rs1180109	1.00[CHB][hapmap]
rs1180116	1.00[CHB][hapmap]
rs12352964	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1927104	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1927107	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28462281	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2997657	0.84[ASN][1000 genomes]
rs2997665	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3015234	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3015237	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3015239	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4237238	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4237239	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4237240	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4367620	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4744586	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4744970	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4744971	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744972	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4744979	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4744981	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6559970	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7035878	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7045153	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs755778	0.81[ASN][1000 genomes]
rs7853094	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	chr9:72725600-72740400	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	chr9:72727200-72737800	Weak transcription	Pancreas	Pancrea
14	chr9:72727200-72746600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:72728200-72752800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr9:72728200-72758400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:72728600-72740400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:72728600-72746800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:72729200-72744800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:72730800-72738000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:72731200-72768400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:72732400-72737600	Enhancers	HMEC	breast
23	chr9:72732600-72737600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:72732800-72737600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:72733200-72741000	Weak transcription	Left Ventricle	heart
26	chr9:72733200-72745000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr9:72733800-72748400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr9:72734200-72737600	Enhancers	NHDF-Ad	bronchial
29	chr9:72734600-72737600	Enhancers	Osteobl	bone
30	chr9:72734800-72738000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:72735000-72737600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:72736000-72740800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:72736200-72737800	Weak transcription	Ovary	ovary
34	chr9:72736200-72740800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:72736200-72741000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:72736200-72741000	Weak transcription	Right Atrium	heart
37	chr9:72736200-72745000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr9:72736200-72746000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:72736200-72747400	Weak transcription	Fetal Muscle Leg	muscle
40	chr9:72736200-72748800	Weak transcription	Fetal Brain Female	brain
41	chr9:72736200-72761200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:72736400-72738000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:72736400-72740400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr9:72736400-72741200	Weak transcription	Psoas Muscle	Psoas
45	chr9:72736600-72738000	Weak transcription	HepG2	liver
46	chr9:72736600-72740200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:72736600-72744600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr9:72737000-72744200	Strong transcription	Colon Smooth Muscle	Colon
49	chr9:72737000-72748000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr9:72737200-72737800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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