Variant report

Variant	rs10816483
Chromosome Location	chr9:110049163-110049164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10521083	0.82[ASN][1000 genomes]
rs10739234	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10739238	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10816493	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10978798	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1535765	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1805332	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1805334	0.82[ASN][1000 genomes]
rs1886134	0.82[ASN][1000 genomes]
rs1969798	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1980725	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2147071	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2417783	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3818367	0.82[ASN][1000 genomes]
rs4278207	0.82[ASN][1000 genomes]
rs4625087	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4978404	0.82[ASN][1000 genomes]
rs4978406	0.82[ASN][1000 genomes]
rs4978844	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4978849	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7019341	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7025563	0.82[ASN][1000 genomes]
rs7029997	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7030169	0.82[ASN][1000 genomes]
rs7030555	0.82[ASN][1000 genomes]
rs7030631	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7031906	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7035611	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7035725	0.85[ASN][1000 genomes]
rs7038737	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7039041	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7040217	0.80[EUR][1000 genomes]
rs7041137	0.80[EUR][1000 genomes]
rs7041497	0.82[ASN][1000 genomes]
rs7043962	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7046950	0.82[ASN][1000 genomes]
rs7856227	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs942293	0.82[ASN][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	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv831682	chr9:109937181-110075453	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv893698	chr9:109998563-110052660	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv508560	chr9:110006490-110060539	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110045000-110050600	Active TSS	NHLF	lung
2	chr9:110046800-110050800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:110046800-110050800	Weak transcription	Gastric	stomach
4	chr9:110046800-110050800	Weak transcription	Pancreas	Pancrea
5	chr9:110046800-110051000	Weak transcription	Spleen	Spleen
6	chr9:110047200-110049800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:110047200-110050600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr9:110047200-110050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:110047200-110052400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:110047200-110052600	Enhancers	Primary B cells from peripheral blood	blood
11	chr9:110047200-110054600	Weak transcription	Lung	lung
12	chr9:110047600-110067200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:110047800-110049200	Enhancers	Stomach Mucosa	stomach
14	chr9:110047800-110049800	Enhancers	Primary B cells from cord blood	blood
15	chr9:110047800-110051800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr9:110047800-110054200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr9:110048000-110049200	Enhancers	Brain Anterior Caudate	brain
18	chr9:110048000-110049200	Enhancers	Fetal Intestine Small	intestine
19	chr9:110048000-110049400	Enhancers	Primary hematopoietic stem cells	blood
20	chr9:110048000-110050200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:110048000-110051000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:110048000-110051200	Enhancers	Thymus	Thymus
23	chr9:110048000-110053200	Weak transcription	Fetal Thymus	thymus
24	chr9:110048000-110056000	Weak transcription	Aorta	Aorta
25	chr9:110048000-110058400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr9:110048200-110050200	Enhancers	Fetal Heart	heart
27	chr9:110048400-110049200	Enhancers	Brain Angular Gyrus	brain
28	chr9:110048400-110049200	Enhancers	Fetal Muscle Leg	muscle
29	chr9:110048400-110049400	Enhancers	Placenta	Placenta
30	chr9:110048400-110051200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:110048400-110051400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr9:110048400-110051800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr9:110048400-110052800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr9:110048400-110058000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr9:110048600-110049200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:110048600-110049600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr9:110048600-110049800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:110048600-110049800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr9:110048600-110050000	Enhancers	Colon Smooth Muscle	Colon
40	chr9:110048600-110050000	Enhancers	Left Ventricle	heart
41	chr9:110048600-110050400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:110048600-110050400	Weak transcription	Small Intestine	intestine
43	chr9:110048600-110050600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:110048600-110050800	Weak transcription	Ovary	ovary
45	chr9:110048600-110050800	Weak transcription	Right Atrium	heart
46	chr9:110048600-110051400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:110048600-110051600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr9:110048600-110052000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr9:110048600-110052000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr9:110048600-110052000	Active TSS	GM12878-XiMat	blood

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