Variant report

Variant	rs1586959
Chromosome Location	chr18:28621295-28621296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12456806	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12458126	0.85[ASN][1000 genomes]
rs1586958	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586960	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586961	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726372	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1816635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414229	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28657717	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688431	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41465650	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4799562	0.84[ASN][1000 genomes]
rs7235088	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8086281	0.99[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1586959	WBP11P1	cis	parietal	SCAN

Chromatin state (count:72 , 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	chr18:28619200-28621400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:28619400-28623200	Active TSS	Placenta Amnion	Placenta Amnion
4	chr18:28619800-28623200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:28620200-28623000	Active TSS	HMEC	breast
6	chr18:28620400-28622400	Active TSS	Right Atrium	heart
7	chr18:28620400-28623400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr18:28620600-28621800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr18:28620600-28623000	Active TSS	NHEK	skin
10	chr18:28620600-28623800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr18:28620800-28621400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:28620800-28621400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr18:28620800-28621400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr18:28620800-28621400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
15	chr18:28620800-28621400	Active TSS	Right Ventricle	heart
16	chr18:28620800-28621600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
17	chr18:28620800-28621600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr18:28620800-28621600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr18:28620800-28621800	Bivalent Enhancer	Fetal Lung	lung
20	chr18:28620800-28622400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr18:28620800-28622400	Bivalent Enhancer	HUVEC	blood vessel
22	chr18:28620800-28623200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:28621000-28621400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:28621000-28621400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:28621000-28621400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:28621000-28621400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr18:28621000-28621400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
28	chr18:28621000-28621400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
29	chr18:28621000-28621400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
30	chr18:28621000-28621400	Bivalent Enhancer	Fetal Intestine Large	intestine
31	chr18:28621000-28621400	Bivalent Enhancer	Fetal Stomach	stomach
32	chr18:28621000-28621400	Bivalent Enhancer	Left Ventricle	heart
33	chr18:28621000-28621400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
34	chr18:28621000-28621600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr18:28621000-28621600	Bivalent Enhancer	Brain Angular Gyrus	brain
36	chr18:28621000-28621600	Flanking Bivalent TSS/Enh	Fetal Heart	heart
37	chr18:28621000-28621600	Bivalent/Poised TSS	Placenta	Placenta
38	chr18:28621000-28621800	Bivalent/Poised TSS	Fetal Brain Female	brain
39	chr18:28621000-28622400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr18:28621000-28622400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr18:28621000-28622400	Enhancers	Gastric	stomach
42	chr18:28621000-28622600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
43	chr18:28621000-28622600	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr18:28621000-28622800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr18:28621000-28622800	Bivalent/Poised TSS	Fetal Kidney	kidney
46	chr18:28621000-28623000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr18:28621000-28623000	Bivalent Enhancer	Liver	Liver
48	chr18:28621000-28623000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
49	chr18:28621000-28623000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr18:28621000-28623200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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