Variant report

Variant	rs2975890
Chromosome Location	chr9:72729407-72729408
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1007127	0.91[ASN][1000 genomes]
rs10481740	1.00[ASN][1000 genomes]
rs10481741	1.00[ASN][1000 genomes]
rs10735583	1.00[ASN][1000 genomes]
rs10780811	1.00[ASN][1000 genomes]
rs10868799	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs11142350	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs1536956	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1927106	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927115	0.94[ASN][1000 genomes]
rs1927128	0.81[ASN][1000 genomes]
rs1927139	0.81[ASN][1000 genomes]
rs2026136	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2148861	0.94[ASN][1000 genomes]
rs2182739	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2209779	0.99[ASN][1000 genomes]
rs2281935	0.89[ASN][1000 genomes]
rs2309633	0.81[ASN][1000 genomes]
rs2975862	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2975907	0.93[ASN][1000 genomes]
rs2975908	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2975910	0.93[ASN][1000 genomes]
rs2975915	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2975917	0.92[ASN][1000 genomes]
rs2997652	0.85[ASN][1000 genomes]
rs2997664	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2997676	0.93[ASN][1000 genomes]
rs2997677	0.93[ASN][1000 genomes]
rs2997678	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3015168	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3015224	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3015232	0.89[ASN][1000 genomes]
rs3015238	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3015242	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4375070	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs4744968	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4744977	1.00[ASN][1000 genomes]
rs4744978	1.00[ASN][1000 genomes]
rs6560019	0.81[ASN][1000 genomes]
rs7027209	0.83[CHB][hapmap];0.85[JPT][hapmap]

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	chr9:72722000-72729600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:72722000-72758400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:72724400-72742600	Weak transcription	Right Ventricle	heart
5	chr9:72725200-72735800	Weak transcription	Fetal Brain Male	brain
6	chr9:72725600-72735400	Weak transcription	Right Atrium	heart
7	chr9:72725600-72740400	Weak transcription	Fetal Lung	lung
8	chr9:72725600-72745200	Weak transcription	Lung	lung
9	chr9:72725800-72742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:72725800-72764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:72726000-72729600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:72726000-72729600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr9:72726000-72731400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr9:72726000-72734600	Weak transcription	Adipose Nuclei	Adipose
15	chr9:72726000-72735800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr9:72726200-72741000	Weak transcription	Fetal Stomach	stomach
17	chr9:72726200-72749200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr9:72726600-72730000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:72726800-72729600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:72726800-72730000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:72726800-72731000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:72726800-72734800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:72727000-72729800	Strong transcription	Ovary	ovary
25	chr9:72727000-72740400	Weak transcription	Esophagus	oesophagus
26	chr9:72727000-72776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr9:72727200-72735600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:72727200-72737800	Weak transcription	Pancreas	Pancrea
29	chr9:72727200-72746600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:72728000-72730000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr9:72728200-72729800	Strong transcription	HSMM	muscle
32	chr9:72728200-72730200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr9:72728200-72732800	Strong transcription	HSMMtube	muscle
34	chr9:72728200-72752800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr9:72728200-72758400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:72728400-72729600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:72728400-72730600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr9:72728400-72730600	Weak transcription	NHDF-Ad	bronchial
39	chr9:72728400-72730600	Weak transcription	Osteobl	bone
40	chr9:72728400-72730800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:72728400-72730800	Weak transcription	NH-A	brain
42	chr9:72728400-72730800	Weak transcription	NHLF	lung
43	chr9:72728400-72735000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:72728400-72735200	Strong transcription	Colon Smooth Muscle	Colon
45	chr9:72728400-72735200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr9:72728600-72730600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:72728600-72731600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:72728600-72740400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr9:72728600-72746800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr9:72728800-72730600	Weak transcription	HMEC	breast

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