Variant report

Variant	rs4714829
Chromosome Location	chr6:44941521-44941522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 226 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:212)

rs_ID	r²[population]
rs1023091	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1028944	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1041333	0.84[ASN][1000 genomes]
rs10456119	0.85[ASN][1000 genomes]
rs10484627	0.84[ASN][1000 genomes]
rs10948183	0.84[ASN][1000 genomes]
rs10948185	0.87[ASN][1000 genomes]
rs10948186	0.87[ASN][1000 genomes]
rs10948187	0.85[ASN][1000 genomes]
rs10948188	0.86[ASN][1000 genomes]
rs10948190	0.87[ASN][1000 genomes]
rs10948193	0.87[ASN][1000 genomes]
rs10948194	0.84[ASN][1000 genomes]
rs10948197	0.86[ASN][1000 genomes]
rs1150806	0.84[ASN][1000 genomes]
rs11967188	0.87[ASN][1000 genomes]
rs12190513	0.86[ASN][1000 genomes]
rs12191518	0.86[ASN][1000 genomes]
rs12196818	0.87[ASN][1000 genomes]
rs12198904	0.82[ASN][1000 genomes]
rs12207620	0.81[ASN][1000 genomes]
rs12209076	0.82[ASN][1000 genomes]
rs12214778	0.86[ASN][1000 genomes]
rs12524069	0.87[ASN][1000 genomes]
rs12525009	0.84[ASN][1000 genomes]
rs12525773	0.99[ASN][1000 genomes]
rs12526649	0.87[EUR][1000 genomes]
rs12526711	0.84[ASN][1000 genomes]
rs12526755	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527668	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12527908	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12528232	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12528762	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12529522	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12529990	0.87[EUR][1000 genomes]
rs12530016	0.94[ASN][1000 genomes]
rs12530207	0.89[EUR][1000 genomes]
rs12661902	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12662272	0.84[EUR][1000 genomes]
rs12663530	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12663798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1284979	0.83[EUR][1000 genomes]
rs1284989	0.89[EUR][1000 genomes]
rs1284993	0.89[EUR][1000 genomes]
rs1284995	0.83[EUR][1000 genomes]
rs1284999	0.89[EUR][1000 genomes]
rs1285000	0.83[EUR][1000 genomes]
rs1285003	0.82[EUR][1000 genomes]
rs1285005	0.84[EUR][1000 genomes]
rs1285006	0.84[EUR][1000 genomes]
rs1285008	0.84[EUR][1000 genomes]
rs1285009	0.83[EUR][1000 genomes]
rs1285010	0.84[EUR][1000 genomes]
rs1285011	0.84[EUR][1000 genomes]
rs1285020	0.84[EUR][1000 genomes]
rs1285021	0.84[EUR][1000 genomes]
rs1285025	0.84[EUR][1000 genomes]
rs1285028	0.84[EUR][1000 genomes]
rs1285029	0.84[EUR][1000 genomes]
rs1285030	0.84[EUR][1000 genomes]
rs1293598	0.81[ASN][1000 genomes]
rs13193495	0.81[AMR][1000 genomes]
rs13196587	0.87[ASN][1000 genomes]
rs13198471	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13201942	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13202672	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13203495	0.85[ASN][1000 genomes]
rs13205113	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13206526	0.84[ASN][1000 genomes]
rs13209827	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13211006	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13211229	0.87[ASN][1000 genomes]
rs13213412	0.82[ASN][1000 genomes]
rs13215618	0.81[ASN][1000 genomes]
rs13216116	0.87[ASN][1000 genomes]
rs13216967	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1324535	0.84[EUR][1000 genomes]
rs1329710	0.85[ASN][1000 genomes]
rs1329715	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1329716	0.84[ASN][1000 genomes]
rs1360195	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360197	0.84[ASN][1000 genomes]
rs1402599	0.86[ASN][1000 genomes]
rs1521355	0.87[ASN][1000 genomes]
rs1576382	0.84[ASN][1000 genomes]
rs1578676	0.87[ASN][1000 genomes]
rs1590864	0.87[ASN][1000 genomes]
rs16869119	0.94[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs16872574	0.86[ASN][1000 genomes]
rs17339124	0.87[ASN][1000 genomes]
rs17422760	0.83[ASN][1000 genomes]
rs17424547	0.82[ASN][1000 genomes]
rs1797148	0.89[EUR][1000 genomes]
rs1797149	0.89[EUR][1000 genomes]
rs1797156	0.87[EUR][1000 genomes]
rs1831310	0.83[ASN][1000 genomes]
rs1854547	0.86[ASN][1000 genomes]
rs1935549	0.87[ASN][1000 genomes]
rs1980265	0.85[ASN][1000 genomes]
rs2139863	0.87[ASN][1000 genomes]
rs2396369	0.86[ASN][1000 genomes]
rs2396370	0.86[ASN][1000 genomes]
rs2396371	0.86[ASN][1000 genomes]
rs2396372	0.87[ASN][1000 genomes]
rs2396381	0.89[EUR][1000 genomes]
rs2894599	0.86[ASN][1000 genomes]
rs34152708	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34243039	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34251367	0.89[EUR][1000 genomes]
rs34286542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34776198	0.87[ASN][1000 genomes]
rs34808716	0.83[ASN][1000 genomes]
rs34817919	0.86[ASN][1000 genomes]
rs35103634	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35134594	0.87[EUR][1000 genomes]
rs35357222	0.87[ASN][1000 genomes]
rs35687006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35704584	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35811020	0.85[EUR][1000 genomes]
rs35813980	0.87[ASN][1000 genomes]
rs35856781	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35908738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36105034	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3778507	0.86[ASN][1000 genomes]
rs3799965	0.87[ASN][1000 genomes]
rs3799966	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3799969	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3799970	0.87[ASN][1000 genomes]
rs3799972	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3799974	0.91[ASN][1000 genomes]
rs3799976	0.83[ASN][1000 genomes]
rs3799977	0.82[ASN][1000 genomes]
rs3799979	0.82[ASN][1000 genomes]
rs3799981	0.84[ASN][1000 genomes]
rs3799984	0.83[ASN][1000 genomes]
rs3799986	0.87[ASN][1000 genomes]
rs3799987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823252	0.87[ASN][1000 genomes]
rs3846896	0.81[ASN][1000 genomes]
rs3857589	0.87[EUR][1000 genomes]
rs3957281	0.82[ASN][1000 genomes]
rs4475320	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512220	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711803	0.83[ASN][1000 genomes]
rs4711805	0.83[ASN][1000 genomes]
rs4711807	0.87[ASN][1000 genomes]
rs4711809	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4714825	0.87[ASN][1000 genomes]
rs4714827	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4714828	0.81[ASN][1000 genomes]
rs4714830	0.87[ASN][1000 genomes]
rs4714832	0.84[ASN][1000 genomes]
rs4714834	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4714838	0.86[EUR][1000 genomes]
rs494982	0.86[ASN][1000 genomes]
rs500773	0.83[ASN][1000 genomes]
rs524492	0.84[ASN][1000 genomes]
rs538801	0.83[ASN][1000 genomes]
rs542444	0.87[ASN][1000 genomes]
rs55893720	0.87[ASN][1000 genomes]
rs562016	0.87[ASN][1000 genomes]
rs588848	0.81[ASN][1000 genomes]
rs59945128	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608941	0.84[ASN][1000 genomes]
rs62438007	0.82[ASN][1000 genomes]
rs636845	0.86[ASN][1000 genomes]
rs6458414	0.83[ASN][1000 genomes]
rs6458415	0.82[ASN][1000 genomes]
rs66642874	0.86[ASN][1000 genomes]
rs67597621	0.84[ASN][1000 genomes]
rs67911131	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679713	0.87[ASN][1000 genomes]
rs6904584	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6917594	0.84[EUR][1000 genomes]
rs6919161	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6919485	0.85[ASN][1000 genomes]
rs6923519	0.81[ASN][1000 genomes]
rs6925017	0.86[ASN][1000 genomes]
rs718112	0.83[ASN][1000 genomes]
rs720988	0.87[ASN][1000 genomes]
rs720989	0.85[ASN][1000 genomes]
rs72664272	0.83[ASN][1000 genomes]
rs72664273	0.85[ASN][1000 genomes]
rs72664274	0.86[ASN][1000 genomes]
rs73449282	0.84[EUR][1000 genomes]
rs7745506	0.89[EUR][1000 genomes]
rs7747642	0.81[ASN][1000 genomes]
rs7749865	0.87[ASN][1000 genomes]
rs7754378	0.83[ASN][1000 genomes]
rs7763421	0.84[ASN][1000 genomes]
rs7769218	0.87[ASN][1000 genomes]
rs7775717	0.85[ASN][1000 genomes]
rs9296450	0.97[ASN][1000 genomes]
rs9357464	0.84[ASN][1000 genomes]
rs9367211	0.82[ASN][1000 genomes]
rs9369516	0.81[ASN][1000 genomes]
rs9395055	0.81[ASN][1000 genomes]
rs9463039	0.84[ASN][1000 genomes]
rs9463040	0.84[ASN][1000 genomes]
rs9463054	0.85[ASN][1000 genomes]
rs9463055	0.85[ASN][1000 genomes]
rs9463069	0.89[EUR][1000 genomes]
rs9463070	0.83[EUR][1000 genomes]
rs9472376	0.86[ASN][1000 genomes]
rs9472407	0.87[ASN][1000 genomes]
rs9472409	0.86[ASN][1000 genomes]
rs9472411	0.87[ASN][1000 genomes]
rs9472414	0.99[ASN][1000 genomes]
rs9472416	0.85[ASN][1000 genomes]
rs9472442	0.84[EUR][1000 genomes]
rs976699	0.84[ASN][1000 genomes]
rs9885796	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885861	chr6:44837356-45043618	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758051	chr6:44879791-45056758	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2759423	chr6:44879791-45056758	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv885862	chr6:44890760-45083966	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv885863	chr6:44890760-45083966	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv885864	chr6:44890760-45198796	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv462938	chr6:44909515-45008779	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv470817	chr6:44909515-45008779	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv603007	chr6:44909515-45008779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1023018	chr6:44925393-45152912	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv538212	chr6:44925393-45152912	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44919600-44943200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:44937400-44942400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:44937400-44942800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:44937800-44941800	Weak transcription	Fetal Heart	heart
5	chr6:44937800-44943400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr6:44938200-44943600	Weak transcription	Primary T cells from cord blood	blood
7	chr6:44938800-44943400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:44939800-44942600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:44939800-44951200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:44940200-44942000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:44940200-44942000	ZNF genes & repeats	Dnd41	blood
12	chr6:44940800-44942400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:44940800-44957000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:44941000-44944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:44941200-44942600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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