Variant report

Variant	rs2098420
Chromosome Location	chr16:47587781-47587782
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12719742	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12920938	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1420669	0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs171932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2342693	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41427947	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs41438546	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs4967849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55915748	1.00[EUR][1000 genomes]
rs56026849	1.00[EUR][1000 genomes]
rs57434681	1.00[EUR][1000 genomes]
rs58917857	1.00[EUR][1000 genomes]
rs60269785	1.00[EUR][1000 genomes]
rs61351980	1.00[EUR][1000 genomes]
rs7187698	1.00[EUR][1000 genomes]
rs74016205	1.00[EUR][1000 genomes]
rs74016206	1.00[EUR][1000 genomes]
rs74016219	1.00[EUR][1000 genomes]
rs8053095	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061702	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
9	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
10	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
11	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
12	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47539400-47599000	Weak transcription	NHEK	skin
2	chr16:47548800-47605000	Weak transcription	Right Ventricle	heart
3	chr16:47553600-47599000	Weak transcription	NHLF	lung
4	chr16:47577200-47588800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:47580000-47599200	Weak transcription	Osteobl	bone
6	chr16:47580200-47593400	Weak transcription	Psoas Muscle	Psoas
7	chr16:47581000-47596000	Weak transcription	Brain Anterior Caudate	brain
8	chr16:47581000-47599000	Weak transcription	HSMM	muscle
9	chr16:47581000-47615800	Weak transcription	Placenta	Placenta
10	chr16:47581000-47624200	Weak transcription	Brain Substantia Nigra	brain
11	chr16:47581200-47624600	Weak transcription	Colonic Mucosa	Colon
12	chr16:47581200-47627400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:47581400-47641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:47581800-47589200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:47581800-47599000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:47581800-47621400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr16:47582000-47608200	Weak transcription	Fetal Thymus	thymus
18	chr16:47582000-47624200	Weak transcription	Fetal Kidney	kidney
19	chr16:47582200-47625000	Weak transcription	Fetal Heart	heart
20	chr16:47583200-47589400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:47584600-47587800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:47584600-47587800	Weak transcription	Gastric	stomach
23	chr16:47584600-47587800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr16:47584600-47587800	Weak transcription	GM12878-XiMat	blood
25	chr16:47584600-47588200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr16:47584600-47589000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr16:47584600-47589400	Strong transcription	Primary B cells from cord blood	blood
28	chr16:47584600-47589800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:47584600-47599000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr16:47584600-47599000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:47584600-47599200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:47584600-47599200	Weak transcription	K562	blood
33	chr16:47584600-47599200	Weak transcription	NH-A	brain
34	chr16:47584600-47599400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:47584600-47600600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:47584600-47604200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:47584600-47607000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:47584600-47624400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:47584600-47624400	Weak transcription	Colon Smooth Muscle	Colon
40	chr16:47584800-47587800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:47584800-47587800	Weak transcription	Thymus	Thymus
42	chr16:47584800-47587800	Weak transcription	Spleen	Spleen
43	chr16:47584800-47589000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr16:47584800-47595800	Weak transcription	Aorta	Aorta
45	chr16:47584800-47598200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr16:47584800-47598800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr16:47584800-47599200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:47584800-47599200	Weak transcription	Left Ventricle	heart
49	chr16:47584800-47599600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr16:47584800-47601800	Weak transcription	Brain Hippocampus Middle	brain

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