Variant report

Variant	rs72788197
Chromosome Location	chr5:118855030-118855031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10051019	0.88[EUR][1000 genomes]
rs10073818	0.88[EUR][1000 genomes]
rs11539471	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746780	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748477	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748530	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952111	0.91[EUR][1000 genomes]
rs11957255	0.98[EUR][1000 genomes]
rs11959717	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388106	0.86[EUR][1000 genomes]
rs17145469	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145471	0.98[EUR][1000 genomes]
rs17145473	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145475	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145476	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145477	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17385942	1.00[AFR][1000 genomes]
rs2560717	0.80[EUR][1000 genomes]
rs2560718	0.82[EUR][1000 genomes]
rs28943596	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34338122	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850201	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3991755	1.00[ASN][1000 genomes]
rs4895194	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895195	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55796175	0.81[AMR][1000 genomes]
rs55986996	1.00[ASN][1000 genomes]
rs56050317	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56263494	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411336	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57218593	0.98[EUR][1000 genomes]
rs58354605	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59034186	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59119324	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60497431	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60796985	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61093477	0.93[EUR][1000 genomes]
rs61412235	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61457439	1.00[ASN][1000 genomes]
rs66462865	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66534333	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66831568	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67990368	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68024523	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs68126620	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788165	1.00[AFR][1000 genomes]
rs72788177	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72788186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72788194	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788199	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790203	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790207	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790214	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790217	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790221	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790222	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327103	0.88[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	chr5:118838000-118869200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:118840200-118878400	Weak transcription	Psoas Muscle	Psoas
9	chr5:118841000-118856600	Strong transcription	Liver	Liver
10	chr5:118841000-118880000	Weak transcription	Brain Germinal Matrix	brain
11	chr5:118841200-118880000	Weak transcription	A549	lung
12	chr5:118841400-118873200	Weak transcription	Fetal Brain Male	brain
13	chr5:118842200-118860200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:118845800-118868800	Weak transcription	Fetal Heart	heart
15	chr5:118846800-118857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:118846800-118860200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:118846800-118862800	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:118846800-118878200	Weak transcription	NHLF	lung
19	chr5:118847000-118860000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:118847000-118863000	Weak transcription	NHDF-Ad	bronchial
21	chr5:118847000-118868000	Weak transcription	K562	blood
22	chr5:118847200-118873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:118847200-118877800	Weak transcription	Small Intestine	intestine
24	chr5:118847200-118878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:118847200-118879800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:118847400-118856400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:118847400-118861000	Weak transcription	Hela-S3	cervix
28	chr5:118847400-118863000	Weak transcription	HMEC	breast
29	chr5:118847400-118872000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:118847400-118873000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:118847400-118873200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:118847400-118873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:118847400-118875800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:118847400-118876000	Weak transcription	Colonic Mucosa	Colon
35	chr5:118847400-118878200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:118847400-118879800	Weak transcription	HSMMtube	muscle
37	chr5:118847600-118863400	Weak transcription	Brain Angular Gyrus	brain
38	chr5:118847600-118865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr5:118847600-118873200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:118847600-118873400	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:118847600-118873600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:118847600-118877600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:118847600-118878200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:118847600-118879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:118848000-118863400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:118848200-118863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:118848600-118863800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:118848800-118855200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:118850000-118865600	Weak transcription	GM12878-XiMat	blood
50	chr5:118850800-118855200	Strong transcription	Primary monocytes fromperipheralblood	blood

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