Variant report

Variant	rs7226417
Chromosome Location	chr18:43734008-43734009
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs55740138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55759370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55767951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55880870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55900453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56044366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56065400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56656421	1.00[EUR][1000 genomes]
rs56912043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57502921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57693291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57803441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58398659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58725857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58899840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58961089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59182447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59910849	1.00[EUR][1000 genomes]
rs60077572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60100844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60114246	1.00[EUR][1000 genomes]
rs60336955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60384600	0.95[AFR][1000 genomes]
rs60781524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7235500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7237569	1.00[EUR][1000 genomes]
rs7239657	1.00[EUR][1000 genomes]
rs7240916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7241791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73425190	1.00[EUR][1000 genomes]
rs73956204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956263	1.00[EUR][1000 genomes]
rs73956265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73956280	1.00[AMR][1000 genomes]
rs73956287	1.00[EUR][1000 genomes]
rs8083843	1.00[EUR][1000 genomes]
rs8088778	1.00[EUR][1000 genomes]
rs8096742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
3	chr18:43707600-43735800	Weak transcription	Primary B cells from cord blood	blood
4	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
5	chr18:43711000-43735600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr18:43712400-43739200	Weak transcription	Fetal Intestine Small	intestine
7	chr18:43714000-43748400	Weak transcription	Ovary	ovary
8	chr18:43722400-43736600	Weak transcription	Fetal Stomach	stomach
9	chr18:43728600-43735600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr18:43728600-43735600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr18:43728800-43735600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr18:43728800-43735600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr18:43730200-43736400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr18:43730400-43734600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr18:43731800-43735600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr18:43732000-43734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:43732000-43734200	Enhancers	Fetal Muscle Leg	muscle
18	chr18:43732000-43735600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr18:43732000-43735600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr18:43732000-43735600	Enhancers	Dnd41	blood
21	chr18:43732000-43738600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr18:43732200-43735200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr18:43732200-43735600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr18:43732600-43734200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:43732600-43739000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr18:43732800-43735600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr18:43733000-43735200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr18:43733000-43735400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:43733000-43737200	Enhancers	HSMMtube	muscle
30	chr18:43733200-43734200	Enhancers	HSMM	muscle
31	chr18:43733200-43734200	Enhancers	NHEK	skin
32	chr18:43733200-43735000	Weak transcription	Fetal Brain Male	brain
33	chr18:43733200-43735400	Weak transcription	Fetal Thymus	thymus
34	chr18:43733200-43735400	Weak transcription	NHLF	lung
35	chr18:43733200-43736800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr18:43733200-43740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr18:43733200-43740600	Enhancers	HMEC	breast
38	chr18:43733200-43753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr18:43733400-43734200	Enhancers	Psoas Muscle	Psoas
40	chr18:43733400-43736400	Weak transcription	Esophagus	oesophagus
41	chr18:43733600-43734200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr18:43733600-43734200	Enhancers	Fetal Kidney	kidney
43	chr18:43733600-43734600	Weak transcription	Primary T cells from cord blood	blood
44	chr18:43733600-43734800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr18:43733600-43734800	Weak transcription	NHDF-Ad	bronchial
46	chr18:43733600-43734800	Weak transcription	Osteobl	bone
47	chr18:43733600-43735800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr18:43733600-43735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr18:43733600-43735800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr18:43733600-43735800	Weak transcription	A549	lung

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