Variant report

Variant	rs16928696
Chromosome Location	chr8:48525000-48525001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48524955..48527562-chr8:48528831..48532011,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10957549	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10957644	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10958058	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1106607	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11778548	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11782572	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11784823	0.95[EUR][1000 genomes]
rs12544329	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12549996	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12675378	0.96[EUR][1000 genomes]
rs12678110	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1872840	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2129617	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2129618	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2130412	0.97[EUR][1000 genomes]
rs2130413	0.98[EUR][1000 genomes]
rs4489323	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4536257	0.91[EUR][1000 genomes]
rs4608108	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873368	0.96[EUR][1000 genomes]
rs4873395	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4873399	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4873437	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4873507	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4873529	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4873565	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873619	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55941013	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56092229	0.94[EUR][1000 genomes]
rs62539116	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62539144	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62539147	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62539150	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6982620	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6987043	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6989917	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7014443	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs876915	0.94[EUR][1000 genomes]
rs923499	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1029297	chr8:48468835-48530803	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1030163	chr8:48468835-48544495	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48503600-48535000	Weak transcription	Dnd41	blood
2	chr8:48506600-48525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:48506600-48530600	Weak transcription	HepG2	liver
4	chr8:48510600-48545400	Weak transcription	Esophagus	oesophagus
5	chr8:48512200-48556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:48513000-48532000	Weak transcription	Fetal Intestine Small	intestine
7	chr8:48514000-48536800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr8:48515200-48525200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:48515200-48525200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:48515600-48532000	Weak transcription	Fetal Lung	lung
11	chr8:48515800-48540200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:48516000-48525200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:48516200-48528400	Weak transcription	Fetal Brain Male	brain
14	chr8:48516400-48525200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:48517800-48540000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
17	chr8:48522400-48526200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:48522600-48525600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:48522600-48525800	Enhancers	Fetal Muscle Leg	muscle
20	chr8:48522600-48527200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:48522800-48525000	Enhancers	Primary B cells from peripheral blood	blood
22	chr8:48522800-48525600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:48522800-48525600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr8:48522800-48525800	Enhancers	Placenta	Placenta
25	chr8:48523200-48525600	Enhancers	Psoas Muscle	Psoas
26	chr8:48523200-48540000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:48523200-48545400	Weak transcription	Spleen	Spleen
28	chr8:48523400-48529400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:48523400-48532000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:48523400-48532000	Weak transcription	Gastric	stomach
31	chr8:48523600-48525000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:48523600-48526000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr8:48523800-48525000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:48523800-48525000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:48523800-48525200	Weak transcription	Aorta	Aorta
36	chr8:48523800-48525200	Weak transcription	Pancreas	Pancrea
37	chr8:48523800-48525200	Weak transcription	HUVEC	blood vessel
38	chr8:48523800-48526200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:48523800-48529200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:48523800-48529200	Weak transcription	NHEK	skin
41	chr8:48523800-48529600	Weak transcription	A549	lung
42	chr8:48523800-48531800	Weak transcription	Right Ventricle	heart
43	chr8:48523800-48531800	Weak transcription	HSMMtube	muscle
44	chr8:48523800-48532000	Weak transcription	Lung	lung
45	chr8:48523800-48535200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
47	chr8:48524000-48525000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:48524000-48525000	Weak transcription	NHLF	lung
49	chr8:48524000-48525200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:48524000-48526600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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