Variant report

Variant	rs73114472
Chromosome Location	chr12:57448090-57448091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57447941-57448214	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr12:57447911-57448497	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57443720..57447783-chr12:57448016..57452046,6	K562	blood:

Variant related genes	Relation type
MYO1A	TF binding region
ENSG00000166866	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10400412	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10400555	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1044939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506350	0.89[ASN][1000 genomes]
rs10506351	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1072670	0.85[ASN][1000 genomes]
rs11832487	0.86[ASN][1000 genomes]
rs11834851	0.86[ASN][1000 genomes]
rs11834856	0.86[ASN][1000 genomes]
rs11836517	0.86[ASN][1000 genomes]
rs12099695	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12810024	0.83[ASN][1000 genomes]
rs12810837	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12812499	0.88[ASN][1000 genomes]
rs12815538	0.86[ASN][1000 genomes]
rs12818342	0.86[ASN][1000 genomes]
rs12824682	0.86[ASN][1000 genomes]
rs12827039	0.86[ASN][1000 genomes]
rs12827286	0.83[ASN][1000 genomes]
rs1552245	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119301	0.88[ASN][1000 genomes]
rs17119327	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17119330	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17119344	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17119352	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119386	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17119388	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17119390	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17119407	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17119416	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17119418	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1843311	0.86[ASN][1000 genomes]
rs1843312	0.86[ASN][1000 genomes]
rs1843313	0.86[ASN][1000 genomes]
rs2035545	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2167306	0.86[ASN][1000 genomes]
rs2233267	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2270736	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2270737	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2270739	0.96[ASN][1000 genomes]
rs2279373	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2279743	0.88[ASN][1000 genomes]
rs2291855	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2371717	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28589663	0.86[ASN][1000 genomes]
rs2888139	0.88[ASN][1000 genomes]
rs34186462	0.86[ASN][1000 genomes]
rs34253098	0.86[ASN][1000 genomes]
rs34359134	0.86[ASN][1000 genomes]
rs34762603	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34969650	0.89[ASN][1000 genomes]
rs35034299	0.86[ASN][1000 genomes]
rs35243318	0.86[ASN][1000 genomes]
rs35493121	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35937600	0.86[ASN][1000 genomes]
rs3759134	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3759135	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3782329	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782330	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3803018	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3894415	0.88[ASN][1000 genomes]
rs4016338	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4039	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143085	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56128678	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56270558	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56354404	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57056392	0.96[ASN][1000 genomes]
rs57129030	0.86[ASN][1000 genomes]
rs57351760	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57558853	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58298943	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58389529	0.95[ASN][1000 genomes]
rs60258120	0.85[ASN][1000 genomes]
rs60273384	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60380217	0.86[ASN][1000 genomes]
rs61504157	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66741626	0.86[ASN][1000 genomes]
rs67476535	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67771054	0.86[ASN][1000 genomes]
rs67844278	0.88[ASN][1000 genomes]
rs68126184	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs697222	0.90[ASN][1000 genomes]
rs7135297	0.94[ASN][1000 genomes]
rs7136770	0.88[ASN][1000 genomes]
rs71461303	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72482268	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7298475	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73114426	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73114428	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73114434	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73114436	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73114437	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73114446	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73114452	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73114457	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114459	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114467	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114468	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116494	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73116501	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73118413	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73118416	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73118418	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73131120	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs733629	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs746049	0.86[ASN][1000 genomes]
rs7487948	0.86[ASN][1000 genomes]
rs754398	0.91[ASN][1000 genomes]
rs755221	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7956166	0.86[ASN][1000 genomes]
rs7961920	0.96[ASN][1000 genomes]
rs7962771	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7969312	0.86[ASN][1000 genomes]
rs7972615	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs901068	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899110	chr12:57422934-57472502	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv899111	chr12:57438658-57472502	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57420400-57471800	Weak transcription	Gastric	stomach
2	chr12:57437000-57471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57440400-57451800	Weak transcription	Aorta	Aorta
4	chr12:57440400-57463200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:57441200-57450800	Weak transcription	HSMMtube	muscle
6	chr12:57441800-57452600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:57442000-57450400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:57442000-57450600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:57442000-57450600	Weak transcription	NH-A	brain
10	chr12:57442000-57452000	Weak transcription	Esophagus	oesophagus
11	chr12:57442200-57449800	Weak transcription	Primary T cells from cord blood	blood
12	chr12:57442200-57450400	Weak transcription	HMEC	breast
13	chr12:57442200-57450600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:57442200-57450600	Weak transcription	K562	blood
15	chr12:57442200-57450800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:57442200-57450800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:57442200-57450800	Weak transcription	GM12878-XiMat	blood
18	chr12:57442200-57451000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:57442200-57451000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:57442200-57451200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:57442200-57451800	Weak transcription	HSMM	muscle
22	chr12:57442200-57452200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:57442200-57452200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:57442200-57452400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:57442200-57471600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:57442400-57450800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:57442400-57450800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:57442400-57450800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:57442400-57450800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:57442400-57450800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:57442400-57451800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:57442400-57456200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:57442400-57456800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:57442600-57450000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:57442600-57451200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:57442800-57450800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:57442800-57453200	Weak transcription	Hela-S3	cervix
38	chr12:57443000-57449600	Weak transcription	Dnd41	blood
39	chr12:57443000-57449800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:57443000-57450400	Weak transcription	Thymus	Thymus
41	chr12:57443000-57451800	Weak transcription	Lung	lung
42	chr12:57443200-57452200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:57443400-57448400	Weak transcription	Fetal Thymus	thymus
44	chr12:57443800-57449200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:57443800-57449600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:57444000-57449200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:57444000-57450800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:57444000-57450800	Weak transcription	Placenta	Placenta
49	chr12:57444000-57451000	Weak transcription	Fetal Stomach	stomach
50	chr12:57444000-57463400	Weak transcription	Spleen	Spleen

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