Variant report

Variant	rs1807042
Chromosome Location	chr1:155218678-155218679
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155218380..155222913-chr1:155290636..155299650,10	K562	blood:
2	chr1:155195364..155197876-chr1:155217568..155220600,3	K562	blood:
3	chr1:155211728..155215836-chr1:155216740..155219082,4	MCF-7	breast:
4	chr1:155217881..155219766-chr1:155287696..155289622,2	K562	blood:
5	chr1:155216184..155218791-chr1:155531995..155534588,3	MCF-7	breast:
6	chr1:155218380..155223571-chr1:155290636..155294325,6	K562	blood:
7	chr1:155218456..155235751-chr1:155288837..155299195,44	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177628	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000116539	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1045253	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1046188	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1052176	0.85[ASN][1000 genomes]
rs1052177	0.85[ASN][1000 genomes]
rs1076556	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1078699	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10796940	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10908459	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11264343	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11264345	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11264346	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11264347	0.89[EUR][1000 genomes]
rs11264348	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11264349	0.87[ASN][1000 genomes]
rs11264351	0.80[ASN][1000 genomes]
rs11264352	0.87[ASN][1000 genomes]
rs11264353	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1142287	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11577338	0.87[ASN][1000 genomes]
rs12034326	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12042020	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12044063	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12049375	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12406363	0.81[ASN][1000 genomes]
rs12407919	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12563994	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12723761	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12724449	0.87[ASN][1000 genomes]
rs12730000	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12748155	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12749306	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1546818	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1800438	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1800442	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2009578	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2071053	0.85[ASN][1000 genomes]
rs2072647	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2075566	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2075569	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2236863	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2236864	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2242576	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2242577	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2361536	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2361543	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28373017	0.82[ASN][1000 genomes]
rs28595322	0.81[ASN][1000 genomes]
rs34906309	0.81[ASN][1000 genomes]
rs3754485	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3768566	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3814318	0.83[ASN][1000 genomes]
rs3814319	0.83[ASN][1000 genomes]
rs4043	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4620533	0.85[ASN][1000 genomes]
rs56310840	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59062514	0.81[ASN][1000 genomes]
rs59352002	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs734073	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs734074	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs741756	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7520184	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7543234	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7549276	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7554780	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs762488	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8177968	0.83[ASN][1000 genomes]
rs8847	0.85[ASN][1000 genomes]
rs932972	0.85[ASN][1000 genomes]
rs9628662	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9729564	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
4	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
5	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
6	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
7	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
8	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
9	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
10	esv13606	chr1:155180489-155221243	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
11	nsv1008748	chr1:155189148-155230610	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
12	nsv1011773	chr1:155189148-155234821	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
13	nsv947198	chr1:155206997-155226440	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
14	esv1832331	chr1:155213136-155271366	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	esv1826485	chr1:155214478-155264270	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
16	esv1824971	chr1:155215985-155260869	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1807042	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs1807042	RP11-263K19.4	cis	Whole Blood	GTEx
rs1807042	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs1807042	THBS3	cis	Whole Blood	GTEx
rs1807042	GBAP1	cis	Artery Tibial	GTEx
rs1807042	GBA	cis	Esophagus Mucosa	GTEx
rs1807042	GBAP1	cis	Thyroid	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155215000-155220200	Weak transcription	Small Intestine	intestine
2	chr1:155215200-155219800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:155215200-155219800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:155215200-155219800	Weak transcription	Primary T cells from cord blood	blood
5	chr1:155215200-155219800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:155215200-155219800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:155215200-155219800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:155215200-155219800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:155215200-155219800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:155215200-155219800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:155215200-155219800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:155215200-155219800	Weak transcription	GM12878-XiMat	blood
13	chr1:155215200-155219800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:155215200-155220000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:155215200-155220000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:155215200-155220000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:155215200-155220000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:155215200-155220000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:155215200-155220000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:155215200-155220000	Weak transcription	Pancreas	Pancrea
21	chr1:155215200-155220200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:155215200-155220200	Weak transcription	Adipose Nuclei	Adipose
23	chr1:155215200-155220200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:155215200-155220200	Weak transcription	HMEC	breast
25	chr1:155215200-155220400	Weak transcription	Liver	Liver
26	chr1:155215200-155220400	Weak transcription	Left Ventricle	heart
27	chr1:155215200-155220400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:155215200-155220400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:155215200-155220400	Weak transcription	Right Atrium	heart
30	chr1:155215200-155220400	Weak transcription	Stomach Mucosa	stomach
31	chr1:155215200-155220400	Weak transcription	HSMM	muscle
32	chr1:155215200-155220800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:155215200-155220800	Weak transcription	Hela-S3	cervix
34	chr1:155215200-155224000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:155215400-155219800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:155215400-155219800	Weak transcription	Fetal Thymus	thymus
37	chr1:155215600-155219800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:155215600-155219800	Weak transcription	Fetal Brain Male	brain
39	chr1:155216000-155219000	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:155216000-155220400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:155216200-155218800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:155216200-155219000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:155216200-155219000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:155216200-155219000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:155216200-155219000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:155216200-155219200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:155216200-155219200	Strong transcription	Osteobl	bone
48	chr1:155216200-155220000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:155216200-155220000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:155216200-155220000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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