Variant report

Variant	rs2668765
Chromosome Location	chr18:44790133-44790134
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12326579	0.81[ASN][1000 genomes]
rs16950348	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16950349	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2668766	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2668769	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668773	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2668774	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2668775	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2684815	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2684816	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2684827	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684828	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684844	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2684848	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2684849	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2684850	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2684854	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684856	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56313614	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv828226	chr18:44762014-44801196	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1819372	chr18:44774673-44799515	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2668765	HDHD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44787000-44791000	Bivalent Enhancer	Brain Germinal Matrix	brain
2	chr18:44787200-44790600	Bivalent Enhancer	Fetal Brain Male	brain
3	chr18:44787200-44791000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr18:44787400-44791000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr18:44788000-44791000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr18:44788200-44790800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
7	chr18:44788800-44790200	Enhancers	Pancreas	Pancrea
8	chr18:44788800-44790400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:44788800-44790800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
10	chr18:44788800-44790800	Bivalent Enhancer	Spleen	Spleen
11	chr18:44789000-44790400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr18:44789000-44790800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:44789200-44790200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
14	chr18:44789200-44790600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr18:44789200-44790600	Bivalent Enhancer	Liver	Liver
16	chr18:44789200-44790800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr18:44789400-44790200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr18:44789400-44790400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
19	chr18:44789400-44790600	Bivalent Enhancer	Esophagus	oesophagus
20	chr18:44789400-44790800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
21	chr18:44789400-44791200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr18:44789600-44790200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
23	chr18:44789600-44790400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr18:44789600-44790400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
25	chr18:44789600-44790400	Bivalent/Poised TSS	A549	lung
26	chr18:44789600-44790600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:44789600-44790600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:44789600-44790600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr18:44789600-44790600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr18:44789600-44790600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:44789600-44790600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
32	chr18:44789600-44790600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr18:44789600-44790800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:44789600-44790800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr18:44789600-44790800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:44789600-44790800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr18:44789600-44790800	Bivalent/Poised TSS	HSMMtube	muscle
38	chr18:44789600-44791000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr18:44789600-44791200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr18:44789600-44791200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr18:44789600-44791600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:44789600-44791600	Bivalent/Poised TSS	NH-A	brain
43	chr18:44789600-44791800	Bivalent/Poised TSS	HSMM	muscle
44	chr18:44789800-44790200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr18:44789800-44790200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:44789800-44790200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
47	chr18:44789800-44790200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
48	chr18:44789800-44790200	Bivalent/Poised TSS	Colonic Mucosa	Colon
49	chr18:44789800-44790600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr18:44789800-44790600	Bivalent Enhancer	Brain Angular Gyrus	brain

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