Variant report

Variant	rs216384
Chromosome Location	chr5:37274036-37274037
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10056350	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs10941328	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs10941335	1.00[AMR][1000 genomes]
rs125684	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs150619	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs150620	0.84[ASW][hapmap];0.86[LWK][hapmap];0.84[MKK][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs150622	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs177811	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2056872	0.84[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs216372	0.83[AFR][1000 genomes]
rs216373	0.82[AFR][1000 genomes]
rs216375	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216376	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216378	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216379	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216381	0.91[AFR][1000 genomes]
rs216382	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216383	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216390	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216397	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216399	0.84[ASW][hapmap];0.86[LWK][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216400	0.84[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs216401	0.84[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217773	0.83[AFR][1000 genomes]
rs217774	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217775	0.84[ASW][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217779	0.84[ASW][hapmap];0.86[LWK][hapmap];0.84[MKK][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217782	0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217783	0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217785	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217786	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217791	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217792	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217796	0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217798	0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217800	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217801	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217815	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217816	0.87[AFR][1000 genomes]
rs217824	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217839	0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217852	0.84[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217853	0.83[AFR][1000 genomes]
rs217854	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs217855	0.84[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2366173	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs2548041	0.84[ASW][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2886592	0.84[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs4298274	1.00[AMR][1000 genomes]
rs4869500	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4869502	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs4869510	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs53429	0.84[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55848769	1.00[AMR][1000 genomes]
rs56401	0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56402	0.84[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs594478	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59948566	1.00[AMR][1000 genomes]
rs6451315	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs6889826	1.00[AMR][1000 genomes]
rs6890019	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs73749012	1.00[AMR][1000 genomes]
rs73750958	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750959	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7715310	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs7729149	1.00[AMR][1000 genomes]
rs9292654	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
8	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers 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	42 gene(s)	inside rSNPs	diseases
10	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
13	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv830265	chr5:37152221-37312233	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
16	nsv880406	chr5:37173930-37345270	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
17	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers 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	42 gene(s)	inside rSNPs	diseases
19	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
20	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
21	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
22	nsv881512	chr5:37239240-37364693	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	nsv880817	chr5:37239240-37465126	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
24	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
25	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
26	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
27	nsv597838	chr5:37255585-37274036	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv597843	chr5:37255822-37285576	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs216384	FCER2	trans	lymphoblastoid	seeQTL
rs216384	WDR8	trans	lymphoblastoid	seeQTL
rs216384	TIMD4	trans	lymphoblastoid	seeQTL
rs216384	BCL11A	trans	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37272800-37274200	Weak transcription	A549	lung
2	chr5:37272800-37283400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:37273000-37276200	Enhancers	Hela-S3	cervix
4	chr5:37273800-37274400	Enhancers	HSMMtube	muscle

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