Variant report

Variant	rs1719833
Chromosome Location	chr12:39159441-39159442
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	chr12:39157739..39160038-chr12:39174530..39176146,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10160990	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10732735	0.87[CEU][hapmap];0.90[JPT][hapmap]
rs1095573	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1095576	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1095578	0.87[CEU][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes]
rs11168929	0.87[AMR][1000 genomes]
rs11169037	1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs11169056	0.94[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes]
rs11169105	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs11169268	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169324	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11169604	0.83[EUR][1000 genomes]
rs11169615	0.96[EUR][1000 genomes]
rs11169618	0.96[EUR][1000 genomes]
rs11537523	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11559976	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12231800	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1356267	0.85[CEU][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs1400281	0.88[EUR][1000 genomes]
rs1486342	0.94[AMR][1000 genomes]
rs1486343	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs1486355	0.94[AMR][1000 genomes]
rs1516553	0.81[EUR][1000 genomes]
rs1523119	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1523120	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1533917	0.88[EUR][1000 genomes]
rs1533918	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1607040	0.85[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs1615648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1621487	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1684397	0.83[AMR][1000 genomes]
rs1684405	0.82[AMR][1000 genomes]
rs1684426	0.92[EUR][1000 genomes]
rs1719847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1719860	0.93[EUR][1000 genomes]
rs1914052	0.87[CEU][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs1996879	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2056529	0.88[EUR][1000 genomes]
rs2069210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2455609	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs2455610	0.94[AMR][1000 genomes]
rs2630776	0.94[AMR][1000 genomes]
rs2630778	0.82[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs2630780	0.94[AMR][1000 genomes]
rs2630782	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs2653738	0.84[AMR][1000 genomes]
rs2653752	0.82[AMR][1000 genomes]
rs2653754	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs2653760	0.90[AMR][1000 genomes]
rs2653761	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs2653769	0.89[AMR][1000 genomes]
rs2730910	0.85[CEU][hapmap];0.94[JPT][hapmap]
rs2730944	0.82[AMR][1000 genomes]
rs2730946	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs2730948	0.94[AMR][1000 genomes]
rs2730949	0.94[AMR][1000 genomes]
rs2730954	0.90[AMR][1000 genomes]
rs2730955	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2730957	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2730964	0.84[AMR][1000 genomes]
rs4002228	0.95[EUR][1000 genomes]
rs4494337	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768394	0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs56091726	0.84[AFR][1000 genomes]
rs56310820	0.84[AFR][1000 genomes]
rs60368384	0.94[AMR][1000 genomes]
rs68075931	0.88[AMR][1000 genomes]
rs7136317	0.84[AFR][1000 genomes]
rs7298168	0.87[CEU][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes]
rs73269131	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs74086007	0.84[AFR][1000 genomes]
rs7974247	0.86[EUR][1000 genomes]
rs7978838	0.82[CEU][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs8181763	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8181765	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs826839	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs826840	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs826841	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs826845	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826846	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs826847	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs826854	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs826857	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs826860	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs826861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826863	0.82[AMR][1000 genomes]
rs826865	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs826866	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs826867	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826868	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826871	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs826872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs826878	0.81[YRI][hapmap]
rs826880	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs826882	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs826884	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs826885	0.98[EUR][1000 genomes]
rs826887	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs826890	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs826893	0.81[YRI][hapmap]
rs826894	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs826895	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs826896	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs851933	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs862331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs862332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs866120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][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	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39056000-39168600	Weak transcription	Hela-S3	cervix
2	chr12:39115800-39164400	Weak transcription	Lung	lung
3	chr12:39118400-39165600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:39144200-39163400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:39144200-39173800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:39146400-39165400	Weak transcription	GM12878-XiMat	blood
7	chr12:39152200-39161400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:39152200-39171400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:39152600-39165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:39152800-39165600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:39153800-39165400	Weak transcription	HMEC	breast
12	chr12:39153800-39188600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:39154600-39170800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:39155200-39165600	Weak transcription	Adipose Nuclei	Adipose
15	chr12:39155200-39169200	Weak transcription	Left Ventricle	heart
16	chr12:39156400-39162600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:39156400-39169400	Weak transcription	NHEK	skin
18	chr12:39157200-39165400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:39157400-39165600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:39157600-39165600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:39158000-39159800	Weak transcription	Liver	Liver
22	chr12:39158000-39165800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:39158800-39165800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:39159400-39160200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:39159400-39161600	Weak transcription	Placenta	Placenta

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