Variant report

Variant	rs9308688
Chromosome Location	chr2:114658415-114658416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114656542..114659348-chr2:114663308..114664810,2	K562	blood:
2	chr2:114646598..114649515-chr2:114657676..114659590,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115091	Chromatin interaction
ENSG00000270019	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10187984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10199075	0.88[EUR][1000 genomes]
rs1022411	0.90[EUR][1000 genomes]
rs1028246	0.81[TSI][hapmap]
rs11899895	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11899899	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12711789	0.90[EUR][1000 genomes]
rs12711791	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12988574	0.88[EUR][1000 genomes]
rs12989186	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12992256	0.90[EUR][1000 genomes]
rs12996253	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs13000991	0.88[EUR][1000 genomes]
rs13001665	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13004463	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13006608	0.93[EUR][1000 genomes]
rs13006901	1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs13007764	0.88[EUR][1000 genomes]
rs13007971	0.97[EUR][1000 genomes]
rs13009390	1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13011381	0.97[EUR][1000 genomes]
rs13020063	0.88[EUR][1000 genomes]
rs13021259	0.88[EUR][1000 genomes]
rs13023889	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13024337	0.97[EUR][1000 genomes]
rs13031774	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13031792	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13036249	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13397191	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13414001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13425176	0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17040412	0.97[EUR][1000 genomes]
rs17045321	0.97[EUR][1000 genomes]
rs17045324	0.97[EUR][1000 genomes]
rs17045956	1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28376055	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34011463	0.88[EUR][1000 genomes]
rs34084885	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34193182	0.97[EUR][1000 genomes]
rs34244501	0.88[EUR][1000 genomes]
rs34267159	0.85[EUR][1000 genomes]
rs34278749	0.88[EUR][1000 genomes]
rs34280871	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34308150	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34380051	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34446531	0.88[EUR][1000 genomes]
rs34496519	0.88[EUR][1000 genomes]
rs34574779	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34699644	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34764202	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34767335	0.88[EUR][1000 genomes]
rs34819185	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34859032	0.83[EUR][1000 genomes]
rs34868595	0.88[EUR][1000 genomes]
rs35024634	0.83[EUR][1000 genomes]
rs35047042	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35086061	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35131331	0.88[EUR][1000 genomes]
rs35147957	0.90[EUR][1000 genomes]
rs35201383	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35308064	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35310217	0.90[EUR][1000 genomes]
rs35328354	0.97[EUR][1000 genomes]
rs35363095	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35503998	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35821829	0.97[EUR][1000 genomes]
rs35881779	0.88[EUR][1000 genomes]
rs35921649	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36040648	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36079093	0.88[EUR][1000 genomes]
rs55688180	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55923556	0.90[EUR][1000 genomes]
rs62169872	0.80[EUR][1000 genomes]
rs62169873	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62169876	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62169884	0.93[EUR][1000 genomes]
rs62169886	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62169890	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62169928	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62169932	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62169933	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62171765	0.88[EUR][1000 genomes]
rs62171766	0.88[EUR][1000 genomes]
rs66541229	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66563583	0.88[EUR][1000 genomes]
rs66720895	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66801277	0.97[EUR][1000 genomes]
rs6707751	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6710288	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6710525	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6713995	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6716919	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6718539	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6730338	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6730373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67368963	0.85[EUR][1000 genomes]
rs6740522	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6757220	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67903387	0.90[EUR][1000 genomes]
rs72835421	0.85[EUR][1000 genomes]
rs7564594	0.97[EUR][1000 genomes]
rs7599403	0.97[EUR][1000 genomes]
rs7602149	1.00[EUR][1000 genomes]
rs7602644	0.97[EUR][1000 genomes]
rs9677247	0.93[EUR][1000 genomes]
rs9677951	1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9678565	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9678689	0.97[EUR][1000 genomes]
rs9679712	0.93[EUR][1000 genomes]
rs9941605	0.90[EUR][1000 genomes]
rs9941668	0.90[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9308688	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114648600-114667600	Weak transcription	Lung	lung
2	chr2:114649200-114661200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:114649200-114673200	Weak transcription	Placenta	Placenta
4	chr2:114649600-114661000	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:114650200-114661000	Weak transcription	Right Ventricle	heart
6	chr2:114652000-114667600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:114652000-114667600	Weak transcription	Esophagus	oesophagus
8	chr2:114652200-114700600	Weak transcription	Fetal Brain Male	brain
9	chr2:114652400-114660400	Weak transcription	Fetal Kidney	kidney
10	chr2:114652400-114686000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:114653000-114659600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:114653200-114659200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:114653200-114662400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:114653400-114659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:114653400-114662000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:114653400-114672600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:114653800-114658600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:114653800-114659000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:114654000-114660400	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:114654000-114670000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr2:114654200-114659200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:114654400-114667600	Weak transcription	Thymus	Thymus
24	chr2:114654600-114674600	Weak transcription	Hela-S3	cervix
25	chr2:114654600-114675400	Weak transcription	Fetal Stomach	stomach
26	chr2:114654800-114659000	Genic enhancers	Primary B cells from cord blood	blood
27	chr2:114654800-114659600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:114654800-114663400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:114654800-114666800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr2:114655400-114660200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr2:114655400-114661000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:114655400-114663000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:114655600-114658600	Weak transcription	Left Ventricle	heart
34	chr2:114655600-114661800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:114655600-114665400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:114655600-114665800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr2:114655600-114667600	Weak transcription	HMEC	breast
38	chr2:114655600-114667800	Weak transcription	Fetal Intestine Small	intestine
39	chr2:114655800-114658600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr2:114655800-114658800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:114655800-114659600	Weak transcription	NH-A	brain
42	chr2:114655800-114660200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:114655800-114661000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:114655800-114661800	Weak transcription	Fetal Brain Female	brain
45	chr2:114655800-114662000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:114655800-114665000	Weak transcription	Ovary	ovary
47	chr2:114655800-114672600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:114655800-114672600	Weak transcription	NHEK	skin
49	chr2:114656000-114661800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:114656000-114662200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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