Variant report

Variant	rs6718843
Chromosome Location	chr2:73852505-73852506
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10168931	0.84[EUR][1000 genomes]
rs10169213	0.81[EUR][1000 genomes]
rs10169714	0.82[EUR][1000 genomes]
rs10170786	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170849	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173534	0.83[EUR][1000 genomes]
rs10178409	0.94[EUR][1000 genomes]
rs10185080	0.80[EUR][1000 genomes]
rs10186501	1.00[ASN][1000 genomes]
rs10187416	1.00[ASN][1000 genomes]
rs10189574	1.00[ASN][1000 genomes]
rs10193972	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10195357	1.00[ASN][1000 genomes]
rs10195358	1.00[ASN][1000 genomes]
rs10197409	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197755	0.80[EUR][1000 genomes]
rs10198549	0.81[EUR][1000 genomes]
rs10206899	0.84[EUR][1000 genomes]
rs10207220	0.81[EUR][1000 genomes]
rs10207264	1.00[ASN][1000 genomes]
rs10209517	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496191	0.89[ASN][1000 genomes]
rs10496193	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052162	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126404	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114380	0.81[EUR][1000 genomes]
rs11686019	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893881	0.85[EUR][1000 genomes]
rs11901272	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11903916	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384756	0.84[EUR][1000 genomes]
rs13391258	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391552	0.83[EUR][1000 genomes]
rs13409366	0.85[EUR][1000 genomes]
rs13409668	1.00[ASN][1000 genomes]
rs13410232	0.84[EUR][1000 genomes]
rs13427832	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431529	0.84[EUR][1000 genomes]
rs13432605	0.83[EUR][1000 genomes]
rs13538	0.84[EUR][1000 genomes]
rs1534471	1.00[ASN][1000 genomes]
rs17009149	0.81[EUR][1000 genomes]
rs17009159	0.81[EUR][1000 genomes]
rs1881245	1.00[ASN][1000 genomes]
rs1918863	1.00[ASN][1000 genomes]
rs2056486	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2140195	1.00[ASN][1000 genomes]
rs2421550	1.00[ASN][1000 genomes]
rs2421555	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421577	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28879089	0.83[EUR][1000 genomes]
rs2901438	1.00[ASN][1000 genomes]
rs3738848	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3813227	1.00[ASN][1000 genomes]
rs4500972	0.87[ASN][1000 genomes]
rs4547554	0.82[EUR][1000 genomes]
rs58603761	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6546835	1.00[ASN][1000 genomes]
rs6546836	1.00[ASN][1000 genomes]
rs6546837	1.00[ASN][1000 genomes]
rs6546838	1.00[ASN][1000 genomes]
rs6546839	1.00[ASN][1000 genomes]
rs6546845	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546847	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546849	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546850	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546851	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546852	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546853	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546854	0.85[EUR][1000 genomes]
rs6546856	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546857	0.82[EUR][1000 genomes]
rs6546858	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546859	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546860	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546861	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705977	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707722	1.00[ASN][1000 genomes]
rs6710438	0.83[EUR][1000 genomes]
rs6711001	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719753	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6723247	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724782	1.00[ASN][1000 genomes]
rs6726694	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735946	0.81[EUR][1000 genomes]
rs6740223	1.00[ASN][1000 genomes]
rs6740766	0.81[EUR][1000 genomes]
rs6744398	0.84[EUR][1000 genomes]
rs6745368	0.83[EUR][1000 genomes]
rs6745480	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756987	1.00[ASN][1000 genomes]
rs7558944	0.83[EUR][1000 genomes]
rs7566364	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566385	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7567585	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7576245	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580750	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582606	0.83[EUR][1000 genomes]
rs7583255	0.81[EUR][1000 genomes]
rs7584575	1.00[ASN][1000 genomes]
rs7585004	1.00[ASN][1000 genomes]
rs7585124	1.00[ASN][1000 genomes]
rs7586463	0.81[EUR][1000 genomes]
rs7587577	0.85[EUR][1000 genomes]
rs7588169	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7596773	0.85[EUR][1000 genomes]
rs7598419	0.81[EUR][1000 genomes]
rs7598946	1.00[ASN][1000 genomes]
rs7603647	0.83[EUR][1000 genomes]
rs7604682	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607014	1.00[ASN][1000 genomes]
rs7607892	0.83[EUR][1000 genomes]
rs9653557	0.81[EUR][1000 genomes]
rs9749859	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9750915	0.83[EUR][1000 genomes]
rs9753079	1.00[ASN][1000 genomes]
rs9807961	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv874268	chr2:73837751-73907696	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv874269	chr2:73837751-73914019	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv874270	chr2:73837751-73916672	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1015036	chr2:73840055-73891004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1006235	chr2:73840055-73896603	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1006033	chr2:73840055-73900856	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv2760600	chr2:73846605-73911523	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv874271	chr2:73847024-73907696	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv874272	chr2:73847024-73914019	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv874273	chr2:73847024-73916672	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv874274	chr2:73847024-73922475	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv874275	chr2:73847024-73931971	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv874276	chr2:73847024-73964214	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
19	nsv979021	chr2:73847283-73871861	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1013586	chr2:73848777-73906844	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv1004208	chr2:73849172-73911511	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	esv2497164	chr2:73850717-73912022	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6718843	ALMS1P	cis	Nerve Tibial	GTEx
rs6718843	ALMS1P	cis	Artery Tibial	GTEx
rs6718843	ALMS1P	cis	Thyroid	GTEx
rs6718843	ALMS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73830600-73854800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:73836400-73852600	Weak transcription	Ovary	ovary
3	chr2:73838400-73852600	Weak transcription	Right Ventricle	heart
4	chr2:73838600-73852600	Weak transcription	Pancreas	Pancrea
5	chr2:73842600-73852600	Weak transcription	Left Ventricle	heart
6	chr2:73844000-73854800	Weak transcription	Fetal Brain Female	brain
7	chr2:73851400-73853000	Weak transcription	GM12878-XiMat	blood
8	chr2:73852000-73852600	Enhancers	HepG2	liver
9	chr2:73852400-73852600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:73852400-73854000	Enhancers	Liver	Liver
11	chr2:73852400-73857400	Enhancers	Primary neutrophils fromperipheralblood	blood

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