Variant report

Variant	rs73249990
Chromosome Location	chr5:118847917-118847918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11948865	1.00[EUR][1000 genomes]
rs11949545	1.00[EUR][1000 genomes]
rs11951660	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11952687	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11955089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956487	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11959643	1.00[EUR][1000 genomes]
rs11959779	1.00[EUR][1000 genomes]
rs12714	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1428437	1.00[EUR][1000 genomes]
rs2560723	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28943589	1.00[AMR][1000 genomes]
rs28943594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35164142	1.00[AMR][1000 genomes]
rs35182344	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35764784	1.00[EUR][1000 genomes]
rs3843986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3850203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3850204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4099736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57270573	1.00[EUR][1000 genomes]
rs57592998	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57990091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58527989	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59177585	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59940947	1.00[EUR][1000 genomes]
rs60069733	1.00[EUR][1000 genomes]
rs60684792	1.00[EUR][1000 genomes]
rs60871537	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61460721	1.00[EUR][1000 genomes]
rs61645108	1.00[EUR][1000 genomes]
rs68126620	0.82[AFR][1000 genomes]
rs6868057	1.00[EUR][1000 genomes]
rs72547236	1.00[AMR][1000 genomes]
rs73236713	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73236767	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73236771	1.00[EUR][1000 genomes]
rs73237264	1.00[EUR][1000 genomes]
rs73238798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73240903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73241213	1.00[EUR][1000 genomes]
rs73241292	1.00[EUR][1000 genomes]
rs73243205	1.00[EUR][1000 genomes]
rs73246514	1.00[EUR][1000 genomes]
rs73246536	1.00[EUR][1000 genomes]
rs73249960	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250002	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73251677	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73256182	1.00[EUR][1000 genomes]
rs7708761	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7711431	1.00[EUR][1000 genomes]
rs7711926	1.00[EUR][1000 genomes]
rs7723718	1.00[AMR][1000 genomes];1.00[EUR][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	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118794800-118861200	Weak transcription	HSMM	muscle
2	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:118806200-118855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:118832400-118878200	Weak transcription	NH-A	brain
5	chr5:118832600-118868600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:118833000-118860200	Weak transcription	Stomach Mucosa	stomach
7	chr5:118836000-118850600	Weak transcription	HUVEC	blood vessel
8	chr5:118838000-118869200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:118840200-118878400	Weak transcription	Psoas Muscle	Psoas
10	chr5:118841000-118849800	Weak transcription	Osteobl	bone
11	chr5:118841000-118856600	Strong transcription	Liver	Liver
12	chr5:118841000-118880000	Weak transcription	Brain Germinal Matrix	brain
13	chr5:118841200-118880000	Weak transcription	A549	lung
14	chr5:118841400-118849000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:118841400-118873200	Weak transcription	Fetal Brain Male	brain
16	chr5:118841600-118849000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:118842200-118860200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:118842400-118853000	Strong transcription	Adipose Nuclei	Adipose
19	chr5:118842600-118848600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:118843800-118848600	Strong transcription	Fetal Intestine Large	intestine
21	chr5:118843800-118849000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:118843800-118851400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr5:118843800-118852800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:118844000-118849600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:118844200-118848400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:118844200-118849000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:118844400-118848600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr5:118844400-118852600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:118844400-118852800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:118844800-118848200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr5:118845000-118848000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:118845200-118848200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:118845800-118868800	Weak transcription	Fetal Heart	heart
34	chr5:118846400-118848000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:118846400-118848600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr5:118846400-118848600	ZNF genes & repeats	GM12878-XiMat	blood
37	chr5:118846400-118848800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:118846600-118848000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:118846600-118848000	Strong transcription	Fetal Brain Female	brain
40	chr5:118846600-118848800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:118846600-118853000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:118846800-118848600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:118846800-118849000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr5:118846800-118852600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:118846800-118857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:118846800-118860200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:118846800-118862800	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:118846800-118878200	Weak transcription	NHLF	lung
49	chr5:118847000-118852600	Weak transcription	Pancreas	Pancrea
50	chr5:118847000-118852600	Weak transcription	Right Ventricle	heart

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