Variant report

Variant	rs725229
Chromosome Location	chr9:100070714-100070715
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100066231..100068104-chr9:100070294..100072563,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10115798	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10116404	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10217329	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10435866	0.89[EUR][1000 genomes]
rs10733584	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10733603	0.92[EUR][1000 genomes]
rs10739337	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10739365	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10759542	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10759547	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10759605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10759610	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10759619	0.93[EUR][1000 genomes]
rs10759643	0.86[EUR][1000 genomes]
rs10817300	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10817306	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10817361	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817403	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10817448	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10817492	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10817513	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10817515	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10981362	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10981528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981537	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981551	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981557	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981560	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981625	0.96[EUR][1000 genomes]
rs10981676	0.83[EUR][1000 genomes]
rs10981848	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10981851	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10981889	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10981916	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12378801	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12683119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12683933	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1462086	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1462087	0.91[EUR][1000 genomes]
rs1462092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531439	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17331748	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1870859	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1935372	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2061634	0.91[EUR][1000 genomes]
rs2061635	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2255135	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255139	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255244	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2401382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447287	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447288	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447289	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487874	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487875	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502646	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615144	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2795363	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2795366	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2795369	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2795370	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2818236	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2818237	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2818240	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2818241	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2818242	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2818244	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2859564	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888960	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3953688	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3994559	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3994561	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3994562	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345679	0.96[EUR][1000 genomes]
rs4433262	0.88[EUR][1000 genomes]
rs4437755	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4524907	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4615708	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4645658	0.91[EUR][1000 genomes]
rs4742683	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742684	0.91[EUR][1000 genomes]
rs4743067	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4743074	0.96[EUR][1000 genomes]
rs4743075	0.94[EUR][1000 genomes]
rs4743080	0.87[EUR][1000 genomes]
rs56077563	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56306467	0.85[AMR][1000 genomes]
rs6478043	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6478044	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6478048	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6478051	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478054	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478055	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478059	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7020002	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7020144	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7023087	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7026287	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7026893	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7029749	0.89[EUR][1000 genomes]
rs7033212	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7033480	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7033642	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7038353	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7047367	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71491754	0.82[EUR][1000 genomes]
rs725228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752243	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7847332	0.92[EUR][1000 genomes]
rs7850473	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7855385	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7855956	0.93[EUR][1000 genomes]
rs7860264	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7867330	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7868052	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7868295	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7868312	0.84[EUR][1000 genomes]
rs7875158	0.84[EUR][1000 genomes]
rs7875296	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9299202	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9408859	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9409139	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs725229	RP11-23J9.4	cis	Artery Tibial	GTEx
rs725229	CCDC180	cis	Artery Tibial	GTEx
rs725229	TDRD7	cis	multi-tissue	Pritchard
rs725229	PCTAIRE2BP	cis	multi-tissue	Pritchard
rs725229	RP11-520B13.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100057000-100075000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr9:100057400-100075400	Weak transcription	Dnd41	blood
3	chr9:100060200-100071600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:100068800-100071600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:100068800-100074200	Weak transcription	Thymus	Thymus
6	chr9:100069200-100071800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr9:100069400-100071600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:100069400-100092800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:100069600-100071800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:100069600-100094400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr9:100069800-100075400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:100069800-100076600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:100069800-100077400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:100069800-100086400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:100070000-100071000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:100070000-100071600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr9:100070000-100071800	Weak transcription	Aorta	Aorta
18	chr9:100070000-100072000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr9:100070000-100072200	Weak transcription	Spleen	Spleen
20	chr9:100070000-100074400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:100070000-100075400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:100070000-100076000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr9:100070000-100091400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:100070000-100093800	Weak transcription	Psoas Muscle	Psoas
25	chr9:100070000-100098000	Weak transcription	Small Intestine	intestine
26	chr9:100070000-100100200	Weak transcription	Fetal Heart	heart
27	chr9:100070000-100131400	Weak transcription	Fetal Kidney	kidney
28	chr9:100070200-100071600	Weak transcription	Lung	lung
29	chr9:100070200-100071600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr9:100070200-100071800	Weak transcription	Left Ventricle	heart
31	chr9:100070200-100072000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr9:100070200-100073000	Weak transcription	Brain Hippocampus Middle	brain
33	chr9:100070200-100073800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:100070200-100076800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr9:100070200-100092600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr9:100070200-100095000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:100070400-100071000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr9:100070400-100071000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:100070400-100071000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:100070400-100071200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr9:100070400-100071400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:100070400-100071400	Weak transcription	Colon Smooth Muscle	Colon
43	chr9:100070400-100071400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr9:100070400-100071600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:100070400-100071600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:100070400-100071600	Weak transcription	Brain Angular Gyrus	brain
47	chr9:100070400-100071600	Weak transcription	Brain Anterior Caudate	brain
48	chr9:100070400-100071600	Weak transcription	Brain Germinal Matrix	brain
49	chr9:100070400-100071600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr9:100070400-100071600	Weak transcription	Brain Substantia Nigra	brain

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