Variant report

Variant	rs9922581
Chromosome Location	chr16:46855977-46855978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:46852133..46853769-chr16:46855489..46857597,2	K562	blood:
2	chr16:46854177..46856451-chr16:46859236..46861575,2	K562	blood:
3	chr16:46855816..46858578-chr16:46865585..46867919,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10902629	1.00[AMR][1000 genomes]
rs11860636	1.00[AMR][1000 genomes]
rs12598707	1.00[AMR][1000 genomes]
rs1466170	1.00[AMR][1000 genomes]
rs1530895	1.00[AMR][1000 genomes]
rs1542292	1.00[AMR][1000 genomes]
rs1641120	1.00[AMR][1000 genomes]
rs1645939	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1651658	1.00[AMR][1000 genomes]
rs1651659	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs166096	1.00[AMR][1000 genomes]
rs168745	1.00[AMR][1000 genomes]
rs1698957	1.00[AMR][1000 genomes]
rs185213	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1865837	1.00[AMR][1000 genomes]
rs1865838	1.00[AMR][1000 genomes]
rs194054	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs194055	1.00[AMR][1000 genomes]
rs1992075	1.00[AMR][1000 genomes]
rs1992078	1.00[AMR][1000 genomes]
rs2033673	1.00[AMR][1000 genomes]
rs2034599	1.00[AMR][1000 genomes]
rs250420	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs250421	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs252723	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252724	1.00[AMR][1000 genomes]
rs252725	1.00[AMR][1000 genomes]
rs252727	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252728	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252733	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28185	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36309	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs36311	1.00[AMR][1000 genomes]
rs36313	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs36314	1.00[AMR][1000 genomes]
rs36317	1.00[AMR][1000 genomes]
rs36459	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36460	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs36461	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36463	1.00[AMR][1000 genomes]
rs36465	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36466	1.00[ASW][hapmap];1.00[MKK][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36467	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36470	1.00[ASW][hapmap];1.00[MKK][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36473	1.00[AMR][1000 genomes]
rs36474	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36475	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36477	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36480	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs36482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs396907	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs40164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs408906	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs41232	1.00[AMR][1000 genomes]
rs414928	1.00[AMR][1000 genomes]
rs420560	1.00[AMR][1000 genomes]
rs425556	1.00[AMR][1000 genomes]
rs438275	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs449778	1.00[AMR][1000 genomes]
rs4966571	1.00[AMR][1000 genomes]
rs4966603	1.00[AMR][1000 genomes]
rs4967248	1.00[AMR][1000 genomes]
rs4967259	1.00[AMR][1000 genomes]
rs4967594	1.00[AMR][1000 genomes]
rs4967595	1.00[AMR][1000 genomes]
rs62057622	1.00[AMR][1000 genomes]
rs633699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs637583	1.00[AMR][1000 genomes]
rs6598661	1.00[AMR][1000 genomes]
rs6598679	1.00[AMR][1000 genomes]
rs6598781	1.00[AMR][1000 genomes]
rs695997	1.00[AMR][1000 genomes]
rs698417	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs698419	1.00[AMR][1000 genomes]
rs700580	1.00[AMR][1000 genomes]
rs700581	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7184436	1.00[AMR][1000 genomes]
rs7192389	1.00[AMR][1000 genomes]
rs7198683	1.00[AMR][1000 genomes]
rs7206393	1.00[AMR][1000 genomes]
rs794283	1.00[AMR][1000 genomes]
rs794557	1.00[AMR][1000 genomes]
rs794558	1.00[AMR][1000 genomes]
rs794559	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs797016	1.00[AMR][1000 genomes]
rs8044120	1.00[AMR][1000 genomes]
rs8046818	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047302	1.00[AMR][1000 genomes]
rs8048535	1.00[AMR][1000 genomes]
rs8049734	1.00[AMR][1000 genomes]
rs8059285	1.00[AMR][1000 genomes]
rs808078	1.00[YRI][hapmap]
rs808428	1.00[AMR][1000 genomes]
rs808436	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs811196	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs811267	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs811734	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs937659	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9924386	1.00[AMR][1000 genomes]
rs9925083	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats 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 miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv1059049	chr16:46721805-46859239	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
9	nsv1061651	chr16:46721805-46915511	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv1067283	chr16:46801709-46885218	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv1797464	chr16:46820464-46857454	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	esv3351528	chr16:46853500-46877470	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46824600-46856000	Weak transcription	Ovary	ovary
2	chr16:46824600-46863800	Weak transcription	Aorta	Aorta
3	chr16:46829000-46863400	Weak transcription	Fetal Stomach	stomach
4	chr16:46829600-46857600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:46829600-46860000	Weak transcription	Fetal Brain Male	brain
6	chr16:46831600-46863000	Weak transcription	Fetal Muscle Leg	muscle
7	chr16:46831600-46863800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:46832800-46856000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:46833600-46863000	Weak transcription	Fetal Thymus	thymus
10	chr16:46833600-46864200	Weak transcription	Pancreas	Pancrea
11	chr16:46834200-46863800	Weak transcription	Placenta	Placenta
12	chr16:46834600-46863800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr16:46834800-46857600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr16:46835000-46862800	Weak transcription	HSMMtube	muscle
15	chr16:46836800-46863000	Weak transcription	Colon Smooth Muscle	Colon
16	chr16:46837000-46857600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr16:46837000-46863000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr16:46840000-46856000	Weak transcription	HSMM	muscle
19	chr16:46840000-46857200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr16:46840200-46863800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:46841600-46863000	Weak transcription	Thymus	Thymus
22	chr16:46842000-46857200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:46842400-46857600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr16:46844000-46860600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr16:46844200-46856200	Weak transcription	NH-A	brain
26	chr16:46844200-46860200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr16:46844200-46862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:46844200-46863200	Weak transcription	Adipose Nuclei	Adipose
29	chr16:46844400-46856000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr16:46844400-46856200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:46844400-46860200	Weak transcription	Fetal Lung	lung
32	chr16:46844400-46860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:46844600-46860200	Weak transcription	HUVEC	blood vessel
34	chr16:46845000-46860000	Weak transcription	HepG2	liver
35	chr16:46845200-46863000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr16:46845200-46863400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:46848400-46864200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr16:46848600-46862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:46849200-46860400	Weak transcription	Primary T cells from cord blood	blood
40	chr16:46849200-46862800	Weak transcription	Brain Hippocampus Middle	brain
41	chr16:46849200-46863000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr16:46849800-46857600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr16:46849800-46859200	Weak transcription	Liver	Liver
44	chr16:46850000-46860200	Weak transcription	Brain Germinal Matrix	brain
45	chr16:46850000-46860600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr16:46850200-46856000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr16:46850400-46856400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr16:46850400-46860000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr16:46851000-46856800	Weak transcription	Primary B cells from cord blood	blood
50	chr16:46851200-46856000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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