Variant report

Variant	rs56348543
Chromosome Location	chr1:158996579-158996580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1057027	0.94[ASN][1000 genomes]
rs1057028	0.94[ASN][1000 genomes]
rs1101988	0.88[EUR][1000 genomes]
rs1101991	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1101993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1101994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1101995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1101996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1101997	0.94[EUR][1000 genomes]
rs1101998	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11265131	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265132	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265133	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061402	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12087333	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090965	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12093523	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094545	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12094692	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12094741	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12094786	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12120311	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12139793	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144575	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239136	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12240111	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1633256	0.93[ASN][1000 genomes]
rs1772414	0.88[ASN][1000 genomes]
rs1772415	0.88[ASN][1000 genomes]
rs2106094	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2106095	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157694	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157695	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239890	1.00[ASN][1000 genomes]
rs2518553	0.94[ASN][1000 genomes]
rs2840312	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4531291	0.95[ASN][1000 genomes]
rs4575082	0.97[ASN][1000 genomes]
rs55853408	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56235865	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56248786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56374780	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60958912	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66831955	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67772786	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67843408	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73021886	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74122214	0.95[ASN][1000 genomes]
rs7525853	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535630	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535856	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538035	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540687	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545770	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs856043	0.85[EUR][1000 genomes]
rs856049	0.86[EUR][1000 genomes]
rs856050	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs856051	0.95[ASN][1000 genomes]
rs856052	0.95[ASN][1000 genomes]
rs856053	0.95[ASN][1000 genomes]
rs856054	0.89[EUR][1000 genomes]
rs856055	0.95[ASN][1000 genomes]
rs856056	0.95[ASN][1000 genomes]
rs856057	0.95[ASN][1000 genomes]
rs856058	0.95[ASN][1000 genomes]
rs861318	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158976000-159000800	Weak transcription	Gastric	stomach
2	chr1:158980200-159025400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:158982600-159027400	Weak transcription	Fetal Kidney	kidney
4	chr1:158982800-159000200	Weak transcription	Aorta	Aorta
5	chr1:158984000-159000800	Weak transcription	Right Ventricle	heart
6	chr1:158984200-159024200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:158984800-159027400	Weak transcription	Psoas Muscle	Psoas
8	chr1:158985400-159023800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:158985800-159005000	Weak transcription	Brain Angular Gyrus	brain
10	chr1:158986000-159016200	Weak transcription	Stomach Mucosa	stomach
11	chr1:158987000-159000200	Weak transcription	Brain Substantia Nigra	brain
12	chr1:158987000-159000400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:158987200-158998400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:158987200-159000000	Weak transcription	Small Intestine	intestine
15	chr1:158987200-159000200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:158987200-159000400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:158987200-159001200	Strong transcription	Fetal Thymus	thymus
18	chr1:158987800-159000200	Weak transcription	Esophagus	oesophagus
19	chr1:158988000-159002200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:158988200-159000000	Weak transcription	HSMMtube	muscle
21	chr1:158988200-159000200	Weak transcription	Left Ventricle	heart
22	chr1:158988200-159016600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:158988400-159002400	Weak transcription	Fetal Brain Male	brain
24	chr1:158988600-159024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:158988800-158999000	Genic enhancers	Dnd41	blood
26	chr1:158988800-159000800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:158989000-159002400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:158989000-159003000	Weak transcription	Colonic Mucosa	Colon
29	chr1:158989600-158996800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:158989800-159004200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:158990200-158999800	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:158990200-159000200	Weak transcription	Brain Anterior Caudate	brain
33	chr1:158991000-159000000	Weak transcription	Placenta	Placenta
34	chr1:158991600-158998400	Weak transcription	Fetal Lung	lung
35	chr1:158991600-158998400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:158991600-159000200	Weak transcription	Liver	Liver
37	chr1:158991600-159000200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:158991600-159000200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:158991600-159000400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:158992400-159000200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:158992600-158998400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:158993000-158997000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:158993000-159023200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:158993400-158997000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:158993400-158997200	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr1:158993800-159000600	Weak transcription	HMEC	breast
47	chr1:158993800-159002000	Weak transcription	NH-A	brain
48	chr1:158994000-159000200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:158994000-159000800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:158994200-158998800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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