Variant report

Variant	rs41465650
Chromosome Location	chr18:28621619-28621620
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12456806	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12458126	0.85[ASN][1000 genomes]
rs1586958	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586959	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586960	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586961	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726372	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1816635	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414229	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28657717	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688431	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4799562	0.84[ASN][1000 genomes]
rs7235088	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8086281	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833613	chr18:28446454-28623599	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv961134	chr18:28612225-28625943	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28618600-28621800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr18:28619400-28623200	Active TSS	Placenta Amnion	Placenta Amnion
3	chr18:28619800-28623200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:28620200-28623000	Active TSS	HMEC	breast
5	chr18:28620400-28622400	Active TSS	Right Atrium	heart
6	chr18:28620400-28623400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr18:28620600-28621800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
8	chr18:28620600-28623000	Active TSS	NHEK	skin
9	chr18:28620600-28623800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr18:28620800-28621800	Bivalent Enhancer	Fetal Lung	lung
11	chr18:28620800-28622400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr18:28620800-28622400	Bivalent Enhancer	HUVEC	blood vessel
13	chr18:28620800-28623200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:28621000-28621800	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chr18:28621000-28622400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr18:28621000-28622400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:28621000-28622400	Enhancers	Gastric	stomach
18	chr18:28621000-28622600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
19	chr18:28621000-28622600	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr18:28621000-28622800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:28621000-28622800	Bivalent/Poised TSS	Fetal Kidney	kidney
22	chr18:28621000-28623000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
23	chr18:28621000-28623000	Bivalent Enhancer	Liver	Liver
24	chr18:28621000-28623000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr18:28621000-28623000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr18:28621000-28623200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:28621000-28623200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr18:28621000-28623200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr18:28621000-28623400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr18:28621200-28622000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
31	chr18:28621200-28622000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
32	chr18:28621200-28622000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
33	chr18:28621200-28622000	Bivalent Enhancer	Spleen	Spleen
34	chr18:28621200-28622200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
35	chr18:28621200-28622200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
36	chr18:28621200-28622200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
37	chr18:28621200-28622400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
38	chr18:28621200-28622600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
39	chr18:28621200-28623000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr18:28621200-28623000	Bivalent/Poised TSS	Fetal Thymus	thymus
41	chr18:28621200-28623200	Active TSS	Esophagus	oesophagus
42	chr18:28621200-28623200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr18:28621400-28621800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:28621400-28621800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr18:28621400-28621800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr18:28621400-28621800	Bivalent/Poised TSS	Colonic Mucosa	Colon
47	chr18:28621400-28621800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
48	chr18:28621400-28622000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:28621400-28622000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:28621400-28622200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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