Variant report

Variant	rs71502657
Chromosome Location	chr8:87478781-87478782
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10086340	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10095498	0.81[EUR][1000 genomes]
rs10098356	0.83[EUR][1000 genomes]
rs10956830	0.81[EUR][1000 genomes]
rs1135451	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11539113	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12541793	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12543544	0.81[ASN][1000 genomes]
rs12544463	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12546802	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12550142	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12678720	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12678772	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12679811	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13042	0.81[ASN][1000 genomes]
rs13251006	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13252046	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13253261	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13253296	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13253515	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13256765	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13257414	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13258126	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13260345	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13261901	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13261956	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13264364	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13267782	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13267858	0.81[EUR][1000 genomes]
rs13269259	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13272148	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13273338	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13279589	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13279850	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13281414	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13282351	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28561640	0.81[EUR][1000 genomes]
rs34219490	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34227066	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34367154	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34794500	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35418161	0.81[EUR][1000 genomes]
rs36081104	0.81[EUR][1000 genomes]
rs4961193	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61106663	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67123356	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6998303	0.81[EUR][1000 genomes]
rs7007855	0.81[EUR][1000 genomes]
rs7017706	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7017716	0.81[EUR][1000 genomes]
rs72606633	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7459877	0.82[AMR][1000 genomes]
rs7460342	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7460650	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7461366	0.81[EUR][1000 genomes]
rs7461413	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7461668	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7833049	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7837569	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7839601	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7842042	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7846090	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8635	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9942792	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9942793	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9942823	0.81[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71502657	RMDN1	cis	Whole Blood	GTEx

Chromatin state (count:122 , 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	chr8:87443000-87478800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:87444400-87488800	Weak transcription	NHLF	lung
8	chr8:87448800-87481400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:87449600-87480800	Weak transcription	Right Ventricle	heart
11	chr8:87451800-87485400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr8:87453200-87482600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:87453200-87488600	Weak transcription	HSMMtube	muscle
14	chr8:87453400-87492000	Strong transcription	Adipose Nuclei	Adipose
15	chr8:87453600-87482400	Weak transcription	Fetal Brain Female	brain
16	chr8:87457400-87480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
18	chr8:87457800-87481000	Weak transcription	Esophagus	oesophagus
19	chr8:87457800-87492000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:87458000-87480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:87458800-87483400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:87458800-87486200	Strong transcription	Liver	Liver
23	chr8:87459000-87482800	Strong transcription	Placenta	Placenta
24	chr8:87459000-87483200	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr8:87459200-87483000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:87459400-87479200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:87459800-87482400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:87460000-87483000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:87460000-87485400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr8:87460000-87492400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:87460600-87484400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:87460600-87485000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr8:87460600-87486000	Strong transcription	Dnd41	blood
35	chr8:87461000-87494200	Weak transcription	Brain Substantia Nigra	brain
36	chr8:87461400-87481000	Weak transcription	Brain Germinal Matrix	brain
37	chr8:87462200-87480800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:87462400-87480800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:87462400-87481400	Weak transcription	K562	blood
40	chr8:87463200-87482000	Strong transcription	HepG2	liver
41	chr8:87466200-87481000	Weak transcription	Psoas Muscle	Psoas
42	chr8:87467000-87480000	Weak transcription	Osteobl	bone
43	chr8:87467000-87480800	Weak transcription	Fetal Kidney	kidney
44	chr8:87467200-87481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:87468600-87480400	Weak transcription	HUVEC	blood vessel
46	chr8:87470000-87485800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:87470800-87479200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:87470800-87485000	Strong transcription	Fetal Thymus	thymus
49	chr8:87471000-87497800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr8:87471200-87482800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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