Variant report

Variant	rs10219407
Chromosome Location	chr11:4962933-4962934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10500632	1.00[CHB][hapmap]
rs11033729	1.00[CHB][hapmap]
rs11033730	1.00[CHB][hapmap]
rs11034704	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12273089	1.00[CHB][hapmap]
rs12288920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419598	1.00[CHB][hapmap]
rs12421276	1.00[CHB][hapmap]
rs12421906	1.00[CHB][hapmap]
rs12807423	1.00[CHB][hapmap]
rs16907494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs16907537	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907541	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17252092	1.00[CHB][hapmap]
rs17252916	1.00[CHB][hapmap]
rs7108225	1.00[CHB][hapmap]
rs7108641	1.00[CHB][hapmap]
rs72858186	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651650	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs993754	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	esv2758254	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv2759799	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv7652	chr11:4946245-4997769	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
5	nsv1052130	chr11:4948148-4974017	Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1049277	chr11:4948160-4974017	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1036758	chr11:4948560-4974017	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv1047179	chr11:4949956-4974017	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1044434	chr11:4952914-4974017	Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1054610	chr11:4953844-5004203	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
11	nsv526998	chr11:4954607-5074301	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv1045154	chr11:4958462-5032685	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv540937	chr11:4958462-5032685	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv1046693	chr11:4958462-5177455	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
15	nsv540938	chr11:4958462-5177455	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
16	nsv64	chr11:4959236-4985373	Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv896918	chr11:4960032-5001570	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
18	esv1844673	chr11:4960613-4977065	Inactive region	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv1798076	chr11:4960949-4977065	Inactive region	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv1037222	chr11:4961506-4974017	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv1035749	chr11:4961506-4975693	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv1050555	chr11:4961506-4977070	Inactive region	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv1043799	chr11:4961506-4983161	Inactive region	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	nsv1046196	chr11:4961506-4995448	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
25	esv2760169	chr11:4961518-5233821	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
26	nsv1041220	chr11:4961796-4974017	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	esv2757419	chr11:4961913-4992282	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
28	nsv508614	chr11:4962279-4971325	Inactive region	TF binding region	2 gene(s)	inside rSNPs	diseases
29	nsv1036425	chr11:4962632-4974017	Inactive region	TF binding region	2 gene(s)	inside rSNPs	diseases
30	nsv1045717	chr11:4962632-4975693	Inactive region	TF binding region	2 gene(s)	inside rSNPs	diseases
31	nsv1043027	chr11:4962632-4976522	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
32	nsv1046673	chr11:4962632-4976602	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
33	nsv1050051	chr11:4962632-4977070	Inactive region	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
34	nsv1039389	chr11:4962632-4983161	Inactive region	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
35	nsv1047355	chr11:4962933-4975693	Inactive region	TF binding region	2 gene(s)	inside rSNPs	diseases
36	nsv1038703	chr11:4962933-4976377	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
37	nsv1054521	chr11:4962933-4983161	Inactive region	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs10219407	ART1	cis	parietal	SCAN
rs10219407	OR56B1	cis	cerebellum	SCAN
rs10219407	SLC22A18AS	cis	cerebellum	SCAN
rs10219407	OR56A3	cis	cerebellum	SCAN
rs10219407	EIF3CL	trans	lymphoblastoid	seeQTL
rs10219407	SYT8	cis	parietal	SCAN
rs10219407	TRIM3	cis	parietal	SCAN
rs10219407	OR51B5	cis	parietal	SCAN
rs10219407	TSPAN32	cis	parietal	SCAN
rs10219407	TOLLIP	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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