Variant report

Variant	rs1003165
Chromosome Location	chr8:100421194-100421195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1003166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12114957	1.00[AMR][1000 genomes]
rs16897273	1.00[ASW][hapmap];0.86[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16897309	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16897313	1.00[AMR][1000 genomes]
rs16897320	1.00[ASW][hapmap];0.91[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16897335	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16897352	0.81[LWK][hapmap];1.00[AMR][1000 genomes]
rs16897368	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16897394	1.00[AMR][1000 genomes]
rs16897397	1.00[AMR][1000 genomes]
rs16897400	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16897424	0.91[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16897438	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16897485	1.00[AMR][1000 genomes]
rs16897496	1.00[AMR][1000 genomes]
rs16897548	1.00[AMR][1000 genomes]
rs16897555	1.00[AMR][1000 genomes]
rs1817641	1.00[AMR][1000 genomes]
rs28377732	1.00[AMR][1000 genomes]
rs34941871	1.00[AMR][1000 genomes]
rs35817418	1.00[AMR][1000 genomes]
rs41391644	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56668101	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56898968	1.00[AMR][1000 genomes]
rs57070412	1.00[AMR][1000 genomes]
rs57094368	1.00[AMR][1000 genomes]
rs57350235	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57879149	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59178100	1.00[AMR][1000 genomes]
rs59980540	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60932963	1.00[AMR][1000 genomes]
rs61199835	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61380879	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61387340	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv611812	chr8:100232372-100464671	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1027031	chr8:100250184-100442195	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv539696	chr8:100250184-100442195	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv933677	chr8:100254133-100455039	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv831407	chr8:100284406-100448725	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1031100	chr8:100290887-100508952	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv539697	chr8:100290887-100508952	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv529685	chr8:100290888-100463947	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
17	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
18	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
19	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
20	nsv1015966	chr8:100387076-100481107	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
22	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
23	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100384400-100437600	Weak transcription	Lung	lung
2	chr8:100386000-100428800	Weak transcription	Esophagus	oesophagus
3	chr8:100390000-100421200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:100390400-100421200	Weak transcription	Aorta	Aorta
5	chr8:100391000-100428000	Weak transcription	Pancreas	Pancrea
6	chr8:100391400-100430200	Weak transcription	Brain Angular Gyrus	brain
7	chr8:100393600-100445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:100395400-100432600	Weak transcription	Psoas Muscle	Psoas
9	chr8:100396200-100430000	Weak transcription	HSMMtube	muscle
10	chr8:100397400-100424000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:100397800-100445000	Weak transcription	HSMM	muscle
12	chr8:100399800-100445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:100399800-100498400	Weak transcription	Thymus	Thymus
14	chr8:100403200-100424600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:100404400-100424600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:100404400-100427600	Weak transcription	Dnd41	blood
17	chr8:100404400-100427800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:100404400-100428800	Weak transcription	Left Ventricle	heart
19	chr8:100404400-100430800	Weak transcription	Ovary	ovary
20	chr8:100404400-100441800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:100404400-100444600	Weak transcription	Placenta	Placenta
22	chr8:100404600-100423600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:100404800-100424800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:100409000-100423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:100410400-100422400	Weak transcription	Primary B cells from cord blood	blood
26	chr8:100410800-100423800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:100415200-100421200	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:100416200-100445200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:100416400-100423800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:100419200-100423400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:100419600-100423200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:100419600-100463600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:100420200-100421400	ZNF genes & repeats	Liver	Liver
34	chr8:100420400-100421400	Strong transcription	Primary T cells from cord blood	blood
35	chr8:100420600-100421400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:100420600-100421400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr8:100420600-100421800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:100420800-100421400	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr8:100420800-100421800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:100420800-100421800	Enhancers	NHDF-Ad	bronchial
41	chr8:100420800-100423800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:100420800-100431000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr8:100420800-100441800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:100421000-100421600	Enhancers	Osteobl	bone
45	chr8:100421000-100421800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:100421000-100421800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:100421000-100422000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:100421000-100448400	Weak transcription	NH-A	brain

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