Variant report

Variant	rs16986431
Chromosome Location	chr22:28837904-28837905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs134195	0.89[JPT][hapmap]
rs16986280	0.84[JPT][hapmap]
rs16986354	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16986420	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16986442	0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16986489	0.84[MEX][hapmap];0.97[AMR][1000 genomes]
rs16986544	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4615019	0.84[JPT][hapmap];0.84[AMR][1000 genomes]
rs4638900	0.84[JPT][hapmap];0.84[MEX][hapmap];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28833400-28840000	Active TSS	Fetal Brain Female	brain
2	chr22:28833800-28838000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:28833800-28838000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:28836400-28838000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr22:28836400-28838200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:28836400-28838600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:28836600-28838200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr22:28836800-28839600	Active TSS	Ovary	ovary
9	chr22:28837000-28838000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr22:28837000-28838000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr22:28837000-28838000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr22:28837000-28838000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr22:28837000-28838400	Enhancers	Small Intestine	intestine
14	chr22:28837000-28838600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr22:28837000-28839200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:28837200-28838000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr22:28837200-28838000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr22:28837200-28838600	Flanking Active TSS	Osteobl	bone
19	chr22:28837200-28840000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr22:28837400-28838000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:28837400-28838000	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr22:28837400-28838000	Flanking Active TSS	Fetal Stomach	stomach
23	chr22:28837400-28838600	Flanking Active TSS	NHLF	lung
24	chr22:28837400-28838800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr22:28837400-28839000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr22:28837400-28839800	Active TSS	Aorta	Aorta
27	chr22:28837400-28839800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr22:28837600-28838000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr22:28837600-28838000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr22:28837600-28838000	Bivalent Enhancer	Primary B cells from cord blood	blood
31	chr22:28837600-28838000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr22:28837600-28838000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:28837600-28838000	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr22:28837600-28838000	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr22:28837600-28838000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:28837600-28838000	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr22:28837600-28838000	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr22:28837600-28838000	Active TSS	Fetal Muscle Trunk	muscle
39	chr22:28837600-28838000	Flanking Active TSS	NHDF-Ad	bronchial
40	chr22:28837600-28838200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:28837600-28838200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr22:28837600-28838200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr22:28837600-28838200	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr22:28837600-28838200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr22:28837600-28838200	Flanking Active TSS	Fetal Thymus	thymus
46	chr22:28837600-28838200	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr22:28837600-28838400	Flanking Active TSS	Fetal Heart	heart
48	chr22:28837600-28838400	Flanking Active TSS	Thymus	Thymus
49	chr22:28837600-28838600	Flanking Active TSS	HSMMtube	muscle
50	chr22:28837600-28838800	Flanking Active TSS	Adipose Nuclei	Adipose

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