Variant report

Variant	rs1094360
Chromosome Location	chr1:86105892-86105893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10747323	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10747324	0.91[EUR][1000 genomes]
rs10873711	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10873718	0.91[EUR][1000 genomes]
rs10873719	0.91[EUR][1000 genomes]
rs1094353	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12037294	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12756841	0.84[EUR][1000 genomes]
rs12758966	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1360239	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1481200	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17128293	0.85[ASN][1000 genomes]
rs1764287	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1764295	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1775985	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1775986	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1775987	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1775989	0.82[AFR][1000 genomes]
rs1775991	0.82[EUR][1000 genomes]
rs1775992	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1775993	0.92[ASN][1000 genomes]
rs2014733	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2014750	0.91[EUR][1000 genomes]
rs2026772	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2389973	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2389974	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2389975	0.91[EUR][1000 genomes]
rs2773131	0.83[AFR][1000 genomes]
rs2970548	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs313723	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs313724	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs313725	0.85[ASN][1000 genomes]
rs381453	0.91[EUR][1000 genomes]
rs383558	0.87[EUR][1000 genomes]
rs399547	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs401657	0.87[EUR][1000 genomes]
rs420515	0.91[EUR][1000 genomes]
rs429040	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs430956	0.87[EUR][1000 genomes]
rs432254	0.91[EUR][1000 genomes]
rs4379699	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs438401	0.87[EUR][1000 genomes]
rs444875	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs450953	0.87[EUR][1000 genomes]
rs4949917	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4949918	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6673975	0.87[EUR][1000 genomes]
rs6682235	0.91[EUR][1000 genomes]
rs6686719	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6694808	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7521240	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7528385	0.91[EUR][1000 genomes]
rs7529942	0.91[EUR][1000 genomes]
rs7533395	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7535884	0.91[EUR][1000 genomes]
rs7547023	0.91[EUR][1000 genomes]
rs7554621	0.84[EUR][1000 genomes]
rs821377	0.81[ASN][1000 genomes]
rs821378	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs821380	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs821382	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs821383	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821385	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs821387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821388	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821390	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs821392	0.83[EUR][1000 genomes]
rs821397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821403	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs821404	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs849158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9324152	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9651138	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9661608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9661951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9701898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9793556	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86091800-86107600	Weak transcription	Colonic Mucosa	Colon
2	chr1:86094000-86118600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:86095400-86107600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:86095400-86119000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:86095400-86134800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:86095600-86117000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:86096200-86115600	Weak transcription	NH-A	brain
8	chr1:86101000-86107600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:86101200-86106600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr1:86102800-86118200	Weak transcription	K562	blood
11	chr1:86103400-86116000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
13	chr1:86103600-86107800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:86103600-86113600	Weak transcription	HSMM	muscle
15	chr1:86103600-86114000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:86103600-86114000	Weak transcription	Fetal Stomach	stomach
17	chr1:86103600-86115000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:86103600-86116400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:86103600-86117800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:86103600-86119000	Weak transcription	Spleen	Spleen
21	chr1:86103600-86119400	Weak transcription	Fetal Heart	heart
22	chr1:86103600-86119800	Weak transcription	NHLF	lung
23	chr1:86103600-86120200	Weak transcription	HMEC	breast
24	chr1:86103600-86141200	Weak transcription	Thymus	Thymus
25	chr1:86103600-86142200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:86103600-86145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:86103600-86145600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:86103600-86157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:86103600-86172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:86103600-86172600	Weak transcription	Gastric	stomach
31	chr1:86104200-86113800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:86104400-86116000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:86104400-86116000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:86104600-86115000	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:86104600-86117800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:86105000-86108000	Weak transcription	Fetal Brain Male	brain
37	chr1:86105000-86113800	Weak transcription	A549	lung
38	chr1:86105000-86118000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:86105200-86106000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
40	chr1:86105200-86107800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:86105200-86113800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:86105200-86113800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:86105200-86113800	Weak transcription	Primary B cells from cord blood	blood
44	chr1:86105200-86113800	Weak transcription	Liver	Liver
45	chr1:86105200-86113800	Weak transcription	Osteobl	bone
46	chr1:86105200-86114400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:86105200-86114600	Weak transcription	Psoas Muscle	Psoas
48	chr1:86105200-86115200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:86105200-86118000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:86105200-86118800	Weak transcription	Rectal Mucosa Donor 29	rectum

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