Variant report

Variant	rs62169928
Chromosome Location	chr2:114705149-114705150
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:114704760-114705191	A549	lung:	n/a	n/a
2	POLR2A	chr2:114704689-114705356	GM12891	blood:	n/a	n/a
3	POLR2A	chr2:114704746-114705322	K562	blood:	n/a	n/a
4	POLR2A	chr2:114704733-114705299	GM12891	blood:	n/a	n/a
5	POLR2A	chr2:114704708-114705397	GM12892	blood:	n/a	n/a
6	POLR2A	chr2:114704422-114705334	GM12892	blood:	n/a	n/a
7	POLR2A	chr2:114704661-114705364	GM12892	blood:	n/a	n/a
8	POLR2A	chr2:114704539-114705380	GM12892	blood:	n/a	n/a
9	POLR2A	chr2:114704434-114705439	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:114704713-114705299	GM12891	blood:	n/a	n/a
11	POLR2A	chr2:114705029-114705206	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:114704913-114705298	K562	blood:	n/a	n/a
13	POLR2A	chr2:114704675-114705358	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:114704436-114705410	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:114704282-114705328	K562	blood:	n/a	n/a
16	POLR2A	chr2:114704930-114705297	GM12891	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114704731..114707955-chr2:114708956..114711860,3	K562	blood:
2	chr2:114704731..114706445-chr2:114708956..114710533,2	K562	blood:

No data

Variant related genes	Relation type
ACTR3	TF binding region

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10187984	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11899899	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12711791	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12988574	1.00[EUR][1000 genomes]
rs12989186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13000991	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13001665	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13004463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13006608	0.95[EUR][1000 genomes]
rs13007764	1.00[EUR][1000 genomes]
rs13007971	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13009390	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13011381	0.90[EUR][1000 genomes]
rs13020063	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13021259	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13023889	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13024337	0.90[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];0.90[EUR][1000 genomes]
rs13397191	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13414001	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13425176	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17040412	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17045321	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17045324	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[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];0.90[EUR][1000 genomes]
rs34011463	1.00[EUR][1000 genomes]
rs34084885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34193182	0.90[EUR][1000 genomes]
rs34244501	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34278749	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34280871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34308150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34380051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34446531	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34496519	1.00[EUR][1000 genomes]
rs34574779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34699644	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34764202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34767335	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34819185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34868595	0.80[EUR][1000 genomes]
rs35024634	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35047042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35086061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35131331	1.00[EUR][1000 genomes]
rs35201383	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35308064	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35328354	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35363095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35503998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35821829	0.90[EUR][1000 genomes]
rs35881779	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35921649	1.00[AFR][1000 genomes];1.00[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	1.00[EUR][1000 genomes]
rs55688180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62169873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169876	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169884	0.95[EUR][1000 genomes]
rs62169886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62169890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62169932	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62169933	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62171765	0.80[EUR][1000 genomes]
rs62171766	0.80[EUR][1000 genomes]
rs66541229	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66563583	0.80[EUR][1000 genomes]
rs66720895	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66801277	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6707751	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6710288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6710525	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6713995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716919	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6718539	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6730338	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6730373	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6740522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[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];0.83[EUR][1000 genomes]
rs7564594	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7599403	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7602149	0.88[EUR][1000 genomes]
rs7602644	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9308688	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9677247	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9677951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9678565	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9678689	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9679712	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62169928	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
3	chr2:114670800-114717400	Strong transcription	Fetal Thymus	thymus
4	chr2:114670800-114719000	Strong transcription	Dnd41	blood
5	chr2:114671000-114720000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:114672000-114723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:114674400-114715800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:114676000-114706200	Weak transcription	Hela-S3	cervix
9	chr2:114676600-114719800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:114680400-114721200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:114681600-114717600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:114681600-114719400	Strong transcription	NH-A	brain
13	chr2:114681800-114722600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:114682600-114723400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:114682600-114725000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:114683000-114715800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:114683400-114719800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:114683400-114720000	Strong transcription	NHDF-Ad	bronchial
19	chr2:114687000-114718200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:114687400-114719400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:114688200-114715200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:114688400-114719200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:114688600-114719400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:114689000-114711000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:114689400-114715200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:114689400-114716800	Strong transcription	Placenta	Placenta
27	chr2:114691000-114707000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr2:114691600-114715400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:114691800-114710600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:114691800-114716200	Strong transcription	HUVEC	blood vessel
31	chr2:114691800-114719800	Strong transcription	HSMM	muscle
32	chr2:114693000-114716600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:114693200-114720000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:114695200-114720200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:114695400-114715000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:114695600-114705800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:114695600-114706200	Strong transcription	Primary B cells from cord blood	blood
38	chr2:114696000-114706800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:114696000-114716000	Strong transcription	Osteobl	bone
40	chr2:114696000-114720200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:114696400-114705600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:114696400-114715600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:114696400-114717400	Strong transcription	Liver	Liver
44	chr2:114696400-114718800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:114696400-114719400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr2:114696600-114707200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:114696600-114709400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:114696600-114719200	Strong transcription	GM12878-XiMat	blood
49	chr2:114696600-114719400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:114696600-114719400	Strong transcription	Primary B cells from peripheral blood	blood

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