Variant report

Variant	rs28718986
Chromosome Location	chr4:88380776-88380777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88380058..88382518-chr4:88388082..88389915,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10000196	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10009948	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10023606	0.95[ASN][1000 genomes]
rs10024781	0.96[ASN][1000 genomes]
rs10030035	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10032122	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10084883	0.99[ASN][1000 genomes]
rs12640451	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12640894	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12648665	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12650763	0.99[ASN][1000 genomes]
rs12651034	0.99[ASN][1000 genomes]
rs28366407	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28415220	0.91[ASN][1000 genomes]
rs28437709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28493315	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28493566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28529046	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28535549	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28696943	0.88[ASN][1000 genomes]
rs28712618	0.99[ASN][1000 genomes]
rs28762371	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28805573	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34027531	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4411944	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55824708	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56153912	0.97[ASN][1000 genomes]
rs58192677	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67121411	0.94[ASN][1000 genomes]
rs68045074	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72652067	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7665115	0.95[ASN][1000 genomes]
rs7673763	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7677249	0.95[ASN][1000 genomes]
rs7680878	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7690728	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9995987	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9998212	0.83[AMR][1000 genomes];0.97[ASN][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	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1011882	chr4:88363959-88402477	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28718986	HSD17B11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88344400-88398600	Weak transcription	Gastric	stomach
2	chr4:88345200-88400000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:88345200-88416400	Weak transcription	Colonic Mucosa	Colon
4	chr4:88346200-88382600	Weak transcription	NHLF	lung
5	chr4:88346600-88410400	Weak transcription	Esophagus	oesophagus
6	chr4:88349400-88381800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:88351400-88382400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:88351600-88414600	Weak transcription	Psoas Muscle	Psoas
9	chr4:88352600-88387200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:88354800-88381600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:88356600-88382000	Weak transcription	Brain Germinal Matrix	brain
12	chr4:88357800-88381600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:88359800-88382200	Weak transcription	Fetal Brain Female	brain
14	chr4:88360400-88381800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:88361200-88383000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:88364800-88382800	Weak transcription	HMEC	breast
17	chr4:88365000-88380800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:88365000-88403400	Weak transcription	Right Ventricle	heart
19	chr4:88365200-88381800	Weak transcription	HUVEC	blood vessel
20	chr4:88366000-88381400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:88366600-88382400	Weak transcription	Fetal Heart	heart
22	chr4:88367400-88380800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:88367400-88381600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:88371800-88381800	Weak transcription	Thymus	Thymus
25	chr4:88372600-88381000	Weak transcription	NHDF-Ad	bronchial
26	chr4:88372600-88382600	Weak transcription	NHEK	skin
27	chr4:88372600-88398800	Weak transcription	Lung	lung
28	chr4:88372800-88386400	Weak transcription	HSMM	muscle
29	chr4:88372800-88398800	Weak transcription	Brain Anterior Caudate	brain
30	chr4:88373000-88382000	Weak transcription	Hela-S3	cervix
31	chr4:88373800-88386200	Weak transcription	HSMMtube	muscle
32	chr4:88373800-88397000	Weak transcription	Aorta	Aorta
33	chr4:88373800-88397200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:88373800-88397600	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:88373800-88409800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:88374000-88382400	Weak transcription	Osteobl	bone
37	chr4:88374000-88441000	Weak transcription	Spleen	Spleen
38	chr4:88374400-88382000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:88375600-88381000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:88375800-88382000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:88375800-88409400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:88376200-88398200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:88376600-88381800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:88377000-88381400	Strong transcription	Primary T cells from cord blood	blood
45	chr4:88377800-88382200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:88378000-88381200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:88378000-88381200	Weak transcription	HepG2	liver
48	chr4:88378000-88382400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:88378000-88410400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:88378600-88381600	Strong transcription	Primary T cells fromperipheralblood	blood

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