Variant report

Variant	rs11999862
Chromosome Location	chr9:72966785-72966786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10114223	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780924	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10868800	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10868810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142348	0.91[EUR][1000 genomes]
rs11142364	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142365	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11142372	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142375	0.95[EUR][1000 genomes]
rs11142377	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142379	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11142380	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11142381	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11521805	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11795149	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180080	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180084	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180089	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180097	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180100	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180110	1.00[ASN][1000 genomes]
rs1180113	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180119	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180134	0.95[EUR][1000 genomes]
rs1183311	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17052678	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888155	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927094	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927097	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927123	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927138	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927140	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927141	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927145	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927146	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148854	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148855	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182733	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2209781	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2225128	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309601	0.81[EUR][1000 genomes]
rs2309637	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309641	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309643	0.81[EUR][1000 genomes]
rs2309645	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309646	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871297	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744587	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744985	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66524845	0.95[EUR][1000 genomes]
rs66756859	0.91[EUR][1000 genomes]
rs7042675	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712293	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712300	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341691	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7848955	0.81[EUR][1000 genomes]
rs7865289	0.81[EUR][1000 genomes]
rs9410662	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943532	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943533	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943535	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv831615	chr9:72852705-73019692	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1049132	chr9:72895382-73005897	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72926400-72967000	Weak transcription	Fetal Heart	heart
2	chr9:72936000-72970800	Weak transcription	Psoas Muscle	Psoas
3	chr9:72939600-72974000	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:72943200-72968600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:72943400-72967200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr9:72943600-72970800	Weak transcription	Gastric	stomach
7	chr9:72944000-72970800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:72944000-72974600	Weak transcription	Aorta	Aorta
9	chr9:72944000-72978800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:72944000-73002600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:72944200-72968600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:72944200-72974000	Weak transcription	Spleen	Spleen
13	chr9:72944200-72974800	Weak transcription	Lung	lung
14	chr9:72948000-72983400	Weak transcription	HSMMtube	muscle
15	chr9:72948400-72980800	Weak transcription	NHEK	skin
16	chr9:72952200-72968600	Weak transcription	K562	blood
17	chr9:72952200-72972800	Weak transcription	A549	lung
18	chr9:72957600-72969400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:72957800-72967000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:72958000-72967200	Strong transcription	HSMM	muscle
21	chr9:72958400-72967200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:72958800-72967600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr9:72959000-72969000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:72960200-72967000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr9:72960200-72967200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:72960200-72967600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr9:72960200-72967600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:72960200-72967800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:72960200-72969200	Strong transcription	Dnd41	blood
30	chr9:72960400-72967400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:72960400-72967400	Strong transcription	Placenta	Placenta
32	chr9:72960400-72967600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr9:72960400-72969000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr9:72960600-72967000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr9:72960600-72967200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:72960600-72967200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr9:72960600-72967600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr9:72960600-72967600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr9:72960600-72968800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr9:72960800-72967200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr9:72960800-72967600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr9:72961000-72967000	Strong transcription	Osteobl	bone
43	chr9:72961000-72967600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr9:72961200-72967000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:72961200-72968200	Weak transcription	NHLF	lung
46	chr9:72961400-72966800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:72961400-72966800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:72961400-72967200	Strong transcription	Adipose Nuclei	Adipose
49	chr9:72961400-72967200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr9:72961400-72967400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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