Variant report

Variant	rs1142528
Chromosome Location	chr8:87481300-87481301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87480003..87483972-chr8:87519479..87521956,3	MCF-7	breast:
2	chr8:87472162..87475024-chr8:87481020..87484716,3	MCF-7	breast:
3	chr8:87423456..87426369-chr8:87480182..87483127,2	K562	blood:

Variant related genes	Relation type
ENSG00000176623	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10088389	0.94[ASN][1000 genomes]
rs10088739	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs10092164	0.93[ASN][1000 genomes]
rs10093238	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs10093379	0.92[ASN][1000 genomes]
rs10095129	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs10096168	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs10096443	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs10102749	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10103691	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs10956800	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs10956853	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs11775728	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11781016	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs11787318	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs12543856	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs12546331	0.87[ASN][1000 genomes]
rs13251647	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs17608967	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs1946940	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs3883910	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4285463	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs4961190	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4961194	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4961196	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs56102132	0.86[ASN][1000 genomes]
rs62510798	0.91[ASN][1000 genomes]
rs6415565	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6471273	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs6471280	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs6471345	0.92[ASN][1000 genomes]
rs6471349	0.95[ASN][1000 genomes]
rs6471351	0.95[ASN][1000 genomes]
rs6471352	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs6471354	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs6981299	0.93[ASN][1000 genomes]
rs6983925	0.96[CEU][hapmap];0.81[JPT][hapmap]
rs6988601	0.94[ASN][1000 genomes]
rs6996052	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6999022	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6999654	0.92[CEU][hapmap]
rs7006017	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7006629	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7015263	0.80[ASN][1000 genomes]
rs7015490	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7017719	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7459811	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs7459897	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7460286	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7460439	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7463186	0.85[ASN][1000 genomes]
rs7817738	0.87[ASN][1000 genomes]
rs7818213	0.85[ASN][1000 genomes]
rs7820697	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7822494	0.94[ASN][1000 genomes]
rs7823154	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs9642913	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs9773093	0.87[ASN][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	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS 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 target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1142528	RMDN1	cis	Whole Blood	GTEx
rs1142528	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs1142528	RMDN1	cis	Artery Tibial	GTEx
rs1142528	FAM82B	cis	lesional skin	skin_eQTL
rs1142528	FAM82B	cis	Brain Pons	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87436800-87483200	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr8:87437400-87482800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:87444400-87488800	Weak transcription	NHLF	lung
7	chr8:87448800-87481400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:87451800-87485400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr8:87453200-87482600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:87453200-87488600	Weak transcription	HSMMtube	muscle
12	chr8:87453400-87492000	Strong transcription	Adipose Nuclei	Adipose
13	chr8:87453600-87482400	Weak transcription	Fetal Brain Female	brain
14	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
15	chr8:87457800-87492000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:87458800-87483400	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:87458800-87486200	Strong transcription	Liver	Liver
18	chr8:87459000-87482800	Strong transcription	Placenta	Placenta
19	chr8:87459000-87483200	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr8:87459200-87483000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:87459800-87482400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:87460000-87483000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:87460000-87485400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr8:87460000-87492400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:87460600-87484400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:87460600-87485000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr8:87460600-87486000	Strong transcription	Dnd41	blood
29	chr8:87461000-87494200	Weak transcription	Brain Substantia Nigra	brain
30	chr8:87462400-87481400	Weak transcription	K562	blood
31	chr8:87463200-87482000	Strong transcription	HepG2	liver
32	chr8:87467200-87481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:87470000-87485800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:87470800-87485000	Strong transcription	Fetal Thymus	thymus
35	chr8:87471000-87497800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:87471200-87482800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:87471600-87482200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:87471800-87491600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:87472800-87483000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:87473800-87481400	Weak transcription	Pancreas	Pancrea
41	chr8:87473800-87488200	Weak transcription	Stomach Mucosa	stomach
42	chr8:87473800-87494200	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
44	chr8:87475400-87481400	Weak transcription	Fetal Brain Male	brain
45	chr8:87476400-87483200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:87476600-87482200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:87476600-87491400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:87476800-87483600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr8:87477400-87494200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:87477800-87494200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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