Variant report

Variant	rs4078488
Chromosome Location	chr10:90966546-90966547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10430718	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10509567	0.92[AMR][1000 genomes]
rs10887920	0.89[AMR][1000 genomes]
rs10887921	0.89[AMR][1000 genomes]
rs10887922	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10887923	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10887924	0.82[ASN][1000 genomes]
rs10887925	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10887926	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10887927	0.92[AMR][1000 genomes]
rs10887928	0.92[AMR][1000 genomes]
rs10887929	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10887932	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11203009	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11203011	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11203014	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11203017	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11203018	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11203024	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11203025	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11203030	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11203031	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11203032	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11203033	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12217507	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12219735	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12250945	0.82[ASN][1000 genomes]
rs17117088	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17117124	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17117126	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1977501	0.86[AMR][1000 genomes]
rs2154255	0.92[AMR][1000 genomes]
rs2211599	0.92[AMR][1000 genomes]
rs2863216	0.92[AMR][1000 genomes]
rs2902445	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3802657	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3802658	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3923282	0.89[AMR][1000 genomes]
rs4294494	1.00[AFR][1000 genomes]
rs4399251	0.92[AMR][1000 genomes]
rs4417181	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4511206	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4617498	0.92[AMR][1000 genomes]
rs4933494	0.89[AMR][1000 genomes]
rs61853069	0.82[ASN][1000 genomes]
rs61853072	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7074977	0.82[ASN][1000 genomes]
rs7076185	0.89[AMR][1000 genomes]
rs7098394	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7477966	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7896174	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7902290	0.82[ASN][1000 genomes]
rs9651424	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9651495	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831944	chr10:90822654-90967018	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758235	chr10:90835064-91017486	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759775	chr10:90835064-91017486	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
7	nsv517170	chr10:90931602-90975207	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv437127	chr10:90940003-90968103	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv467422	chr10:90940687-90975207	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv467423	chr10:90940687-90975207	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv551858	chr10:90940687-90975207	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1038123	chr10:90954417-90992129	Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1040280	chr10:90962032-90979093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1042428	chr10:90962252-90977164	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90964800-90967400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr10:90965000-90966800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:90965400-90966800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
4	chr10:90965400-90966800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr10:90965600-90968400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:90966000-90968400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:90966200-90966600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:90966200-90966600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:90966200-90966600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr10:90966200-90966600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:90966200-90966600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
12	chr10:90966200-90966600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
13	chr10:90966200-90966600	Flanking Active TSS	Esophagus	oesophagus
14	chr10:90966200-90966600	Bivalent Enhancer	Placenta	Placenta
15	chr10:90966200-90966600	Enhancers	Spleen	Spleen
16	chr10:90966200-90966600	Bivalent/Poised TSS	HSMM	muscle
17	chr10:90966200-90966800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
18	chr10:90966200-90966800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:90966200-90966800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr10:90966200-90966800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:90966200-90966800	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr10:90966200-90966800	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr10:90966200-90966800	Flanking Bivalent TSS/Enh	NH-A	brain
24	chr10:90966200-90966800	Flanking Bivalent TSS/Enh	Osteobl	bone
25	chr10:90966200-90967000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr10:90966200-90967000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr10:90966200-90967000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:90966200-90967000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:90966200-90967000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
30	chr10:90966200-90967000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
31	chr10:90966200-90967000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
32	chr10:90966200-90967000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
33	chr10:90966200-90967000	Flanking Active TSS	Gastric	stomach
34	chr10:90966200-90967000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
35	chr10:90966200-90967000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
36	chr10:90966200-90967200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr10:90966200-90967200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:90966200-90967200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr10:90966200-90967200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr10:90966200-90967200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr10:90966200-90967200	Flanking Active TSS	Lung	lung
42	chr10:90966200-90967200	Flanking Active TSS	NHLF	lung
43	chr10:90966200-90967400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:90966200-90967400	Flanking Bivalent TSS/Enh	Dnd41	blood
45	chr10:90966200-90967600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr10:90966200-90967600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
47	chr10:90966200-90968000	Active TSS	Brain Angular Gyrus	brain
48	chr10:90966200-90968200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr10:90966200-90968200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
50	chr10:90966200-90968200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus

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