Variant report

Variant	rs2966814
Chromosome Location	chr5:107548309-107548310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10040007	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10045002	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10055322	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057896	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10065168	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10070927	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10071499	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10075370	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10077527	0.94[EUR][1000 genomes]
rs10477887	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158168	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs158169	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs158171	0.81[ASN][1000 genomes]
rs158176	0.82[EUR][1000 genomes]
rs158177	0.81[EUR][1000 genomes]
rs158178	0.82[EUR][1000 genomes]
rs158180	0.82[EUR][1000 genomes]
rs158182	0.82[EUR][1000 genomes]
rs158183	0.82[EUR][1000 genomes]
rs158184	0.82[EUR][1000 genomes]
rs158185	0.82[EUR][1000 genomes]
rs171756	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1833562	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2076794	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2122156	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs286740	0.81[ASN][1000 genomes]
rs286763	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs286770	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs286778	0.81[AMR][1000 genomes]
rs286798	0.84[AMR][1000 genomes]
rs286804	0.83[EUR][1000 genomes]
rs286807	0.83[EUR][1000 genomes]
rs286810	0.83[EUR][1000 genomes]
rs286814	0.81[EUR][1000 genomes]
rs2909791	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2910791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2922408	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2922417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2922418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2922421	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2922422	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2922425	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2922431	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2922432	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2941698	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2966788	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2966793	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2966796	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2966800	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2966802	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2966803	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2966804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2966813	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2966816	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2966818	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2966820	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2966821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2966822	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2966823	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2966825	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2966827	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2966828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2966829	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2966831	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2966833	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs34386	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34387	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34411	0.83[EUR][1000 genomes]
rs34412	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34426	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34429	0.83[EUR][1000 genomes]
rs40063	0.82[EUR][1000 genomes]
rs40065	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs40066	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41130	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4395619	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs466018	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4957551	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5005385	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62359548	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6594295	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6863456	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6869057	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6880727	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6881879	0.94[EUR][1000 genomes]
rs6885988	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7706429	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7727051	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7733311	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9885545	0.90[AMR][1000 genomes];0.88[EUR][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	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv830441	chr5:107450392-107614557	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv882684	chr5:107521677-107695558	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830442	chr5:107539150-107697020	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 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	chr5:107495400-107548800	Weak transcription	Pancreas	Pancrea
2	chr5:107511400-107548400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:107516200-107584800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:107516800-107551400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:107517000-107571800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr5:107526000-107550800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:107535400-107548600	Weak transcription	Fetal Heart	heart
8	chr5:107537000-107550600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:107539400-107551000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:107544200-107550600	Weak transcription	Liver	Liver
11	chr5:107546200-107553200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:107546600-107590800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:107547000-107552400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:107547000-107577200	Weak transcription	Fetal Intestine Large	intestine
15	chr5:107547400-107550000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:107548000-107548800	Strong transcription	Left Ventricle	heart
17	chr5:107548000-107550600	Weak transcription	Primary T cells from cord blood	blood
18	chr5:107548200-107548400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr5:107548200-107548400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:107548200-107548400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:107548200-107548800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:107548200-107549400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:107548200-107549400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:107548200-107549400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:107548200-107549400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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