Variant report

Variant	rs9922954
Chromosome Location	chr16:47553007-47553008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47502629..47504464-chr16:47550187..47553009,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs12102280	1.00[AFR][1000 genomes]
rs12103136	1.00[AFR][1000 genomes]
rs13329876	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13331194	1.00[AFR][1000 genomes]
rs13331276	1.00[AFR][1000 genomes]
rs13332687	1.00[AFR][1000 genomes]
rs13332822	1.00[AFR][1000 genomes]
rs13334553	1.00[AFR][1000 genomes]
rs13334954	1.00[AFR][1000 genomes]
rs13335589	1.00[AFR][1000 genomes]
rs13336440	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13336864	1.00[AFR][1000 genomes]
rs13337909	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13338192	1.00[AFR][1000 genomes]
rs13339329	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28404995	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28405972	1.00[AFR][1000 genomes]
rs28430442	1.00[AFR][1000 genomes]
rs28432840	1.00[AFR][1000 genomes]
rs28441575	1.00[AFR][1000 genomes]
rs28446873	1.00[AFR][1000 genomes]
rs28474983	1.00[AFR][1000 genomes]
rs28533453	1.00[AFR][1000 genomes]
rs28663455	1.00[AFR][1000 genomes]
rs28674891	1.00[AFR][1000 genomes]
rs28691569	1.00[AFR][1000 genomes]
rs28709022	1.00[AFR][1000 genomes]
rs28768157	1.00[AFR][1000 genomes]
rs28811125	1.00[AFR][1000 genomes]
rs28868367	0.87[AFR][1000 genomes]
rs34514482	1.00[AFR][1000 genomes]
rs9921060	1.00[AFR][1000 genomes]
rs9921607	0.87[AFR][1000 genomes]
rs9921690	1.00[AFR][1000 genomes]
rs9922236	1.00[AFR][1000 genomes]
rs9922531	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9922863	1.00[AFR][1000 genomes]
rs9924052	1.00[AFR][1000 genomes]
rs9924144	1.00[AFR][1000 genomes]
rs9924420	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9925039	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9925483	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9925499	1.00[AFR][1000 genomes]
rs9928023	1.00[AFR][1000 genomes]
rs9928782	1.00[AFR][1000 genomes]
rs9930629	1.00[AFR][1000 genomes]
rs9930919	1.00[AFR][1000 genomes]
rs9931999	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9932380	0.87[AFR][1000 genomes]
rs9932666	1.00[AFR][1000 genomes]
rs9933580	0.87[AFR][1000 genomes]
rs9934103	1.00[AFR][1000 genomes]
rs9934849	1.00[AFR][1000 genomes]
rs9935072	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9935386	1.00[AFR][1000 genomes]
rs9935939	1.00[AFR][1000 genomes]
rs9936017	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9936168	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9936755	1.00[AFR][1000 genomes]
rs9937013	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9938457	1.00[AFR][1000 genomes]
rs9938504	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9939423	1.00[AFR][1000 genomes]
rs9940019	1.00[AFR][1000 genomes]
rs9940111	1.00[AFR][1000 genomes]
rs9940262	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS 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	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
6	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers 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 miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
10	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic 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 miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats 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
13	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
14	nsv1059367	chr16:47524706-47586335	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv2761905	chr16:47524718-47586347	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47525800-47563000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:47537200-47557200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:47538200-47568800	Weak transcription	Brain Angular Gyrus	brain
4	chr16:47538400-47557400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr16:47539000-47554400	Weak transcription	Fetal Brain Male	brain
6	chr16:47539000-47560200	Weak transcription	HMEC	breast
7	chr16:47539200-47557200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr16:47539200-47563800	Weak transcription	Hela-S3	cervix
9	chr16:47539200-47569600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:47539200-47580400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:47539400-47557000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:47539400-47557000	Weak transcription	Stomach Mucosa	stomach
13	chr16:47539400-47557200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr16:47539400-47557200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr16:47539400-47557400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:47539400-47566400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr16:47539400-47599000	Weak transcription	NHEK	skin
18	chr16:47539800-47566600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:47543000-47553600	Strong transcription	Adipose Nuclei	Adipose
20	chr16:47543200-47554200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr16:47543200-47554600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:47543200-47556800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:47543400-47553600	Strong transcription	Liver	Liver
24	chr16:47543400-47554400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr16:47543400-47555200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr16:47543600-47553200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:47543600-47553600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:47543800-47553800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr16:47544000-47553400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr16:47545200-47554600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:47545600-47553200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:47545600-47554600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr16:47546200-47557400	Weak transcription	Small Intestine	intestine
34	chr16:47546400-47562400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:47546400-47566400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:47547200-47553400	Weak transcription	NHLF	lung
37	chr16:47547200-47569800	Weak transcription	Fetal Kidney	kidney
38	chr16:47547400-47556800	Weak transcription	HUVEC	blood vessel
39	chr16:47547600-47557200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr16:47547600-47567000	Weak transcription	HSMM	muscle
41	chr16:47547800-47569400	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:47548400-47557000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:47548600-47555200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:47548600-47555200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:47548600-47555400	Weak transcription	Fetal Stomach	stomach
46	chr16:47548600-47556200	Weak transcription	Brain Germinal Matrix	brain
47	chr16:47548600-47560200	Weak transcription	Fetal Intestine Small	intestine
48	chr16:47548600-47561600	Weak transcription	Psoas Muscle	Psoas
49	chr16:47548600-47566200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr16:47548600-47566200	Weak transcription	Thymus	Thymus

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