Variant report

Variant	rs10130829
Chromosome Location	chr14:68454909-68454910
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10129355	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10129612	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10132022	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10133262	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10133883	0.93[EUR][1000 genomes]
rs10136129	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10136174	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10136790	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10136868	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10137233	0.81[EUR][1000 genomes]
rs10139236	0.81[EUR][1000 genomes]
rs10139386	0.81[EUR][1000 genomes]
rs10139548	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10140097	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140282	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10140420	0.81[EUR][1000 genomes]
rs10140493	0.81[EUR][1000 genomes]
rs10143455	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143843	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10144995	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10148527	0.92[ASN][1000 genomes]
rs10151115	0.85[EUR][1000 genomes]
rs10151387	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10467735	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1080956	0.85[EUR][1000 genomes]
rs1080957	0.85[EUR][1000 genomes]
rs1080958	0.85[EUR][1000 genomes]
rs10873210	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11158715	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11158716	0.86[EUR][1000 genomes]
rs11158717	0.88[EUR][1000 genomes]
rs11158719	0.81[EUR][1000 genomes]
rs11622135	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11622243	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11622787	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11623355	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11623984	0.93[EUR][1000 genomes]
rs11624209	0.81[EUR][1000 genomes]
rs11624609	0.87[EUR][1000 genomes]
rs11626280	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11628745	0.81[EUR][1000 genomes]
rs11844529	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11846344	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11848187	0.89[EUR][1000 genomes]
rs11848769	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11850191	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11850946	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11852180	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11852208	0.87[EUR][1000 genomes]
rs12100584	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12431697	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12432681	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12435554	0.89[EUR][1000 genomes]
rs12437178	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12437276	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13329056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1548264	0.81[EUR][1000 genomes]
rs1548265	0.81[EUR][1000 genomes]
rs17104764	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17104776	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17104800	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17104889	0.81[EUR][1000 genomes]
rs17192558	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17192586	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17783304	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1810639	0.81[EUR][1000 genomes]
rs1950767	0.92[ASN][1000 genomes]
rs1980654	0.93[EUR][1000 genomes]
rs1980655	0.93[EUR][1000 genomes]
rs2009191	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2038565	0.84[EUR][1000 genomes]
rs2093358	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2208596	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28444723	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28470365	0.85[EUR][1000 genomes]
rs28474827	0.86[EUR][1000 genomes]
rs28474995	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28488544	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28509330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2877369	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28855496	0.92[ASN][1000 genomes]
rs34588410	0.88[EUR][1000 genomes]
rs34723132	0.89[EUR][1000 genomes]
rs4436722	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4899231	0.85[EUR][1000 genomes]
rs4899232	0.84[EUR][1000 genomes]
rs4902533	0.92[ASN][1000 genomes]
rs4902535	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902536	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902538	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902539	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902540	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902544	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902545	0.86[EUR][1000 genomes]
rs4902547	0.81[EUR][1000 genomes]
rs57990032	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58151429	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60201005	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60415085	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60471554	0.93[EUR][1000 genomes]
rs6573800	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573801	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6573805	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573814	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67566613	0.85[EUR][1000 genomes]
rs68139749	0.81[EUR][1000 genomes]
rs7142112	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7142210	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7142860	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7145044	0.89[EUR][1000 genomes]
rs7145771	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146354	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7150168	0.84[EUR][1000 genomes]
rs7151917	0.89[EUR][1000 genomes]
rs7154014	0.84[EUR][1000 genomes]
rs7154646	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7155097	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7155840	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7155985	0.89[EUR][1000 genomes]
rs7157185	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158544	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7160115	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7161069	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72725138	0.81[EUR][1000 genomes]
rs72725141	0.89[EUR][1000 genomes]
rs72725149	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72725151	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72725153	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72725156	0.84[EUR][1000 genomes]
rs72725157	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72725159	0.84[EUR][1000 genomes]
rs72725165	0.87[EUR][1000 genomes]
rs72725168	0.88[EUR][1000 genomes]
rs72725170	0.88[EUR][1000 genomes]
rs72725172	0.84[EUR][1000 genomes]
rs72725174	0.81[EUR][1000 genomes]
rs72725190	0.81[EUR][1000 genomes]
rs8006437	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8006492	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8011621	0.86[EUR][1000 genomes]
rs8013677	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8014000	0.81[EUR][1000 genomes]
rs8015128	0.84[EUR][1000 genomes]
rs8016525	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8020795	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8021404	0.84[EUR][1000 genomes]
rs8022206	0.84[EUR][1000 genomes]
rs9323501	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9672142	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68450200-68465400	Weak transcription	HepG2	liver
2	chr14:68450600-68457000	Weak transcription	Stomach Mucosa	stomach
3	chr14:68451200-68455000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:68451800-68455000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:68452600-68455000	Enhancers	NHLF	lung
6	chr14:68452600-68455200	Enhancers	Fetal Stomach	stomach
7	chr14:68453000-68456000	Enhancers	Rectal Smooth Muscle	rectum
8	chr14:68453200-68455000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr14:68453600-68455000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:68453600-68455200	Enhancers	Primary hematopoietic stem cells	blood
11	chr14:68453600-68455600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr14:68454000-68455000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:68454000-68455000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:68454000-68455000	Enhancers	HSMM	muscle
15	chr14:68454000-68455200	Enhancers	Fetal Muscle Leg	muscle
16	chr14:68454200-68455000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:68454200-68455000	Enhancers	Colon Smooth Muscle	Colon
18	chr14:68454400-68455000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:68454400-68455000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:68454400-68455000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:68454400-68455000	Flanking Active TSS	Fetal Kidney	kidney
22	chr14:68454400-68455000	Enhancers	HMEC	breast
23	chr14:68454400-68455000	Enhancers	K562	blood
24	chr14:68454600-68455000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:68454600-68455000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:68454600-68455000	Active TSS	Ovary	ovary
27	chr14:68454600-68455000	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr14:68454600-68455000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr14:68454600-68455000	Flanking Active TSS	Osteobl	bone
30	chr14:68454600-68455200	Enhancers	HSMMtube	muscle
31	chr14:68454800-68455000	Enhancers	NHEK	skin
32	chr14:68454800-68455200	Enhancers	Fetal Muscle Trunk	muscle
33	chr14:68454800-68456000	Enhancers	Fetal Lung	lung

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