Variant report

Variant	rs12051449
Chromosome Location	chr16:71691447-71691448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1035545	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10500559	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1058747	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10775326	0.80[ASN][1000 genomes]
rs11075889	0.81[EUR][1000 genomes]
rs11075891	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11075892	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11075895	0.80[ASN][1000 genomes]
rs11075900	0.87[EUR][1000 genomes]
rs11075902	0.83[EUR][1000 genomes]
rs11539980	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11641873	0.86[EUR][1000 genomes]
rs11643690	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11645467	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11646635	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11646748	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11647873	0.91[ASN][1000 genomes]
rs11648240	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11648674	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11862798	0.81[EUR][1000 genomes]
rs12051443	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12051506	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12444484	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12447856	0.85[EUR][1000 genomes]
rs12448226	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12597065	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12920243	0.84[EUR][1000 genomes]
rs12924258	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12925587	0.80[EUR][1000 genomes]
rs12926987	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12927320	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12930206	0.84[EUR][1000 genomes]
rs12930418	0.91[ASN][1000 genomes]
rs12932850	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12935426	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1392487	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1582589	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2032920	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2036337	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2036338	0.87[EUR][1000 genomes]
rs2113222	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2270830	0.87[EUR][1000 genomes]
rs2270831	0.87[EUR][1000 genomes]
rs2270832	0.87[EUR][1000 genomes]
rs2278031	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2303224	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2303225	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2334879	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2334883	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2334884	0.83[AMR][1000 genomes]
rs28439683	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28582831	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28636800	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28704189	0.81[EUR][1000 genomes]
rs34161748	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34401601	0.82[EUR][1000 genomes]
rs34734042	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34764568	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35173463	0.87[EUR][1000 genomes]
rs3751817	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3752681	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3829537	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3925658	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4788442	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4788546	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4788547	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4788549	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4788551	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4788552	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4788554	0.87[EUR][1000 genomes]
rs4788558	0.81[EUR][1000 genomes]
rs4788809	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4788812	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4788814	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4788817	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4788821	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788826	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4788827	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57997630	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60881203	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62053077	0.82[EUR][1000 genomes]
rs62053078	0.82[EUR][1000 genomes]
rs62053107	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62053108	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7185997	0.85[EUR][1000 genomes]
rs7186717	0.83[EUR][1000 genomes]
rs7206039	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7404381	0.84[EUR][1000 genomes]
rs8048057	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8048210	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8052489	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8052999	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8056823	0.89[ASN][1000 genomes]
rs8060867	0.84[EUR][1000 genomes]
rs8062441	0.82[EUR][1000 genomes]
rs8062477	0.83[EUR][1000 genomes]
rs8203	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs918721	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs951453	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs951939	0.83[EUR][1000 genomes]
rs979789	0.86[ASN][1000 genomes]
rs9921270	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9922054	0.82[EUR][1000 genomes]
rs9923264	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9923336	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9925069	0.81[EUR][1000 genomes]
rs9925228	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9927336	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9927437	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9930543	0.81[EUR][1000 genomes]
rs9932415	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9933961	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9936903	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9937280	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9939455	0.85[EUR][1000 genomes]
rs9939471	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9939658	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9940217	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71668000-71703000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:71671800-71704000	Weak transcription	Fetal Brain Male	brain
3	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:71674800-71704600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:71675000-71724000	Weak transcription	Esophagus	oesophagus
6	chr16:71676800-71692200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr16:71676800-71693600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:71679000-71693000	Strong transcription	HSMM	muscle
9	chr16:71679200-71693000	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr16:71681000-71693000	Strong transcription	Stomach Smooth Muscle	stomach
11	chr16:71681200-71693000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr16:71681200-71693600	Strong transcription	Fetal Intestine Large	intestine
13	chr16:71681200-71710800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:71681200-71716000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr16:71681400-71692800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr16:71681400-71693200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr16:71681400-71693400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr16:71681400-71694200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:71682200-71692600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr16:71682800-71698000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:71683000-71693000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:71683800-71692600	Weak transcription	GM12878-XiMat	blood
23	chr16:71683800-71704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:71683800-71756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:71684000-71692200	Weak transcription	NHLF	lung
26	chr16:71684000-71697800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:71684000-71704000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:71684400-71691800	Weak transcription	Hela-S3	cervix
29	chr16:71685200-71741200	Weak transcription	Psoas Muscle	Psoas
30	chr16:71685400-71693000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr16:71685400-71693000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:71685400-71693000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr16:71685400-71693600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:71685400-71718800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:71685800-71693000	Strong transcription	Liver	Liver
36	chr16:71685800-71693600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr16:71685800-71726000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr16:71686000-71692800	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr16:71686000-71693200	Strong transcription	Osteobl	bone
40	chr16:71686200-71693000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr16:71686200-71705400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:71686400-71692400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:71686400-71693000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr16:71686400-71693000	Strong transcription	Adipose Nuclei	Adipose
45	chr16:71686400-71693000	Strong transcription	HepG2	liver
46	chr16:71686400-71693600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr16:71686400-71693600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:71686600-71692800	Strong transcription	Fetal Muscle Leg	muscle
49	chr16:71686800-71692200	Strong transcription	Ovary	ovary
50	chr16:71686800-71693000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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