Variant report

Variant	rs35921649
Chromosome Location	chr2:114671497-114671498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114669911..114672374-chr2:114673667..114676580,4	K562	blood:
2	chr2:114645266..114650561-chr2:114670334..114676393,6	MCF-7	breast:
3	chr2:114645055..114647388-chr2:114670629..114673170,2	K562	blood:
4	chr2:114647586..114650445-chr2:114670762..114673318,2	K562	blood:
5	chr2:114668742..114673140-chr2:114673831..114676869,6	K562	blood:

Variant related genes	Relation type
ENSG00000115091	Chromatin interaction
ENSG00000270019	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10187984	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10199075	0.85[EUR][1000 genomes]
rs1022411	0.88[EUR][1000 genomes]
rs11899899	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12711789	0.88[EUR][1000 genomes]
rs12711791	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12988574	0.90[EUR][1000 genomes]
rs12989186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12992256	0.88[EUR][1000 genomes]
rs13000991	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13001665	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13004463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13006608	0.95[EUR][1000 genomes]
rs13006901	0.85[EUR][1000 genomes]
rs13007764	0.90[EUR][1000 genomes]
rs13007971	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13009390	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13011381	1.00[EUR][1000 genomes]
rs13020063	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13021259	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13023889	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13024337	1.00[EUR][1000 genomes]
rs13031774	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13031792	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13036249	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13397191	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13414001	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13425176	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17040412	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17045321	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17045324	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17045956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28376055	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34011463	0.90[EUR][1000 genomes]
rs34084885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34193182	1.00[EUR][1000 genomes]
rs34244501	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34267159	0.88[EUR][1000 genomes]
rs34278749	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34280871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34308150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34380051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34446531	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34496519	0.90[EUR][1000 genomes]
rs34574779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34699644	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34764202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34767335	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34819185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34859032	0.85[EUR][1000 genomes]
rs34868595	0.90[EUR][1000 genomes]
rs35024634	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35047042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35086061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35131331	0.90[EUR][1000 genomes]
rs35147957	0.88[EUR][1000 genomes]
rs35201383	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35308064	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35310217	0.88[EUR][1000 genomes]
rs35328354	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35363095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35503998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35821829	1.00[EUR][1000 genomes]
rs35881779	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36040648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36079093	0.90[EUR][1000 genomes]
rs55688180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55923556	0.88[EUR][1000 genomes]
rs62169872	0.82[EUR][1000 genomes]
rs62169873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62169876	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62169884	0.95[EUR][1000 genomes]
rs62169886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169932	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169933	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62171765	0.90[EUR][1000 genomes]
rs62171766	0.90[EUR][1000 genomes]
rs66541229	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66563583	0.90[EUR][1000 genomes]
rs66720895	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66801277	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707751	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6710288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6710525	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6713995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6716919	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6718539	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6730338	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6730373	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67368963	0.88[EUR][1000 genomes]
rs6740522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6757220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67903387	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72835421	0.88[EUR][1000 genomes]
rs7564594	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599403	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7602149	0.97[EUR][1000 genomes]
rs7602644	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9308688	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9677247	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9677951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9678565	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9678689	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9679712	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9941605	0.88[EUR][1000 genomes]
rs9941668	0.88[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35921649	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114649200-114673200	Weak transcription	Placenta	Placenta
2	chr2:114652200-114700600	Weak transcription	Fetal Brain Male	brain
3	chr2:114652400-114686000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:114653400-114672600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:114654600-114674600	Weak transcription	Hela-S3	cervix
7	chr2:114654600-114675400	Weak transcription	Fetal Stomach	stomach
8	chr2:114655800-114672600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:114655800-114672600	Weak transcription	NHEK	skin
10	chr2:114658000-114675400	Weak transcription	Aorta	Aorta
11	chr2:114658000-114689400	Weak transcription	Fetal Heart	heart
12	chr2:114658400-114674200	Weak transcription	Fetal Intestine Large	intestine
13	chr2:114661200-114683800	Weak transcription	Colonic Mucosa	Colon
14	chr2:114662200-114675200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:114662400-114672400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:114662400-114676200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:114662600-114672400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:114662600-114674400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:114662800-114690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:114663600-114672600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:114663600-114672800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:114663800-114674600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:114663800-114674800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:114664400-114674600	Weak transcription	Fetal Lung	lung
25	chr2:114664600-114671600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:114665400-114675200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:114665400-114692800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:114667400-114700800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:114667800-114705000	Weak transcription	Esophagus	oesophagus
30	chr2:114668000-114675200	Weak transcription	Lung	lung
31	chr2:114668000-114675600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:114668000-114676000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:114668000-114690800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:114668200-114672600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:114668200-114675000	Weak transcription	Ovary	ovary
36	chr2:114668200-114675400	Weak transcription	Pancreas	Pancrea
37	chr2:114668200-114692600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:114668200-114695800	Weak transcription	Psoas Muscle	Psoas
39	chr2:114668200-114704800	Weak transcription	Gastric	stomach
40	chr2:114668400-114671600	Weak transcription	HMEC	breast
41	chr2:114668400-114672600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:114668400-114674200	Weak transcription	NHLF	lung
43	chr2:114668400-114674800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:114668400-114675200	Weak transcription	Left Ventricle	heart
45	chr2:114668400-114675400	Weak transcription	Thymus	Thymus
46	chr2:114668400-114696200	Weak transcription	Small Intestine	intestine
47	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
48	chr2:114668600-114672600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:114668600-114674800	Weak transcription	Fetal Brain Female	brain
50	chr2:114668600-114674800	Weak transcription	HSMMtube	muscle

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