Variant report

Variant	rs72710469
Chromosome Location	chr9:72694028-72694029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10114215	0.80[ASN][1000 genomes]
rs10511979	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1112232	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12002407	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12003971	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12683706	0.82[ASN][1000 genomes]
rs12684987	0.82[ASN][1000 genomes]
rs12685632	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12685937	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12685939	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12686383	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12686668	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17087686	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17088796	0.82[ASN][1000 genomes]
rs17088840	0.82[ASN][1000 genomes]
rs17088889	0.82[ASN][1000 genomes]
rs17523363	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927105	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1927110	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1927116	0.82[ASN][1000 genomes]
rs1986412	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2001235	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296772	0.90[ASN][1000 genomes]
rs2296773	0.90[ASN][1000 genomes]
rs2309584	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2871290	0.82[ASN][1000 genomes]
rs2975866	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2975867	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2975868	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2975880	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2975884	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2975911	0.93[ASN][1000 genomes]
rs2997668	0.96[ASN][1000 genomes]
rs2997679	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2997681	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2997714	0.96[ASN][1000 genomes]
rs3015165	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3015169	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3015170	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3015171	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3015173	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3015174	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3015175	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015177	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3015180	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3015181	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3015182	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3015184	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3015185	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3015186	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3015189	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3015198	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015204	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015207	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015213	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015223	0.92[ASN][1000 genomes]
rs35188046	0.82[ASN][1000 genomes]
rs3829096	0.93[ASN][1000 genomes]
rs4289878	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4460447	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4495496	0.90[ASN][1000 genomes]
rs4744982	0.82[ASN][1000 genomes]
rs58085049	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58660710	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58969772	0.80[ASN][1000 genomes]
rs59189596	0.82[ASN][1000 genomes]
rs59589460	0.82[ASN][1000 genomes]
rs59619263	0.82[ASN][1000 genomes]
rs61416419	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7022893	0.80[ASN][1000 genomes]
rs72709197	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72709200	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72710483	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs745852	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs867595	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	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72685000-72694600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr9:72685200-72695800	Weak transcription	Aorta	Aorta
3	chr9:72685200-72696000	Weak transcription	Right Atrium	heart
4	chr9:72687200-72694800	Strong transcription	HSMMtube	muscle
5	chr9:72688600-72695200	Weak transcription	HSMM	muscle
6	chr9:72688600-72696400	Enhancers	Ovary	ovary
7	chr9:72688800-72694400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:72689000-72695600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:72689200-72694600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:72689400-72696200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr9:72690200-72694200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:72690200-72695200	Enhancers	Colon Smooth Muscle	Colon
13	chr9:72690600-72695600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:72690600-72696200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr9:72692000-72694400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:72693400-72696600	Enhancers	Fetal Stomach	stomach
17	chr9:72693800-72694200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:72693800-72694600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr9:72693800-72694600	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr9:72693800-72694800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:72693800-72694800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr9:72693800-72694800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr9:72693800-72695000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr9:72693800-72695000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:72693800-72695000	Enhancers	Pancreas	Pancrea
26	chr9:72693800-72695800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:72693800-72696400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:72693800-72696400	Enhancers	Fetal Muscle Leg	muscle
29	chr9:72693800-72696800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr9:72694000-72694200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr9:72694000-72694600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr9:72694000-72694600	Enhancers	Fetal Lung	lung
33	chr9:72694000-72694800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr9:72694000-72694800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:72694000-72694800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr9:72694000-72694800	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr9:72694000-72695000	Enhancers	Psoas Muscle	Psoas
38	chr9:72694000-72695200	Enhancers	Brain Germinal Matrix	brain
39	chr9:72694000-72696000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:72694000-72696000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr9:72694000-72696200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr9:72694000-72696200	Enhancers	Lung	lung
43	chr9:72694000-72696400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:72694000-72696400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:72694000-72696800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr9:72694000-72696800	Enhancers	Adipose Nuclei	Adipose

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