Variant report

Variant	rs487443
Chromosome Location	chr1:92619565-92619566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10747411	1.00[ASN][1000 genomes]
rs10782838	1.00[ASN][1000 genomes]
rs10875348	0.86[AFR][1000 genomes]
rs11166568	1.00[ASN][1000 genomes]
rs11166575	1.00[ASN][1000 genomes]
rs1226177	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1226188	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234874	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1386585	1.00[ASN][1000 genomes]
rs1487537	1.00[ASN][1000 genomes]
rs1487539	1.00[ASN][1000 genomes]
rs17131767	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748178	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519833	1.00[ASN][1000 genomes]
rs1825813	1.00[ASN][1000 genomes]
rs1906279	1.00[ASN][1000 genomes]
rs2046621	1.00[ASN][1000 genomes]
rs2391139	1.00[ASN][1000 genomes]
rs2391140	1.00[ASN][1000 genomes]
rs2763040	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3103177	1.00[ASN][1000 genomes]
rs3103180	1.00[ASN][1000 genomes]
rs3122320	1.00[ASN][1000 genomes]
rs3131815	1.00[ASN][1000 genomes]
rs3131816	1.00[ASN][1000 genomes]
rs3131824	1.00[ASN][1000 genomes]
rs3131831	1.00[ASN][1000 genomes]
rs4247165	1.00[ASN][1000 genomes]
rs475034	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs476490	1.00[ASN][1000 genomes]
rs481384	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs481677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495446	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501786	0.86[AFR][1000 genomes]
rs501872	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517404	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523692	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524989	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs525834	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530815	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533124	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs533418	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537754	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538054	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs541168	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548100	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548141	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs552468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553173	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562119	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs564077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566576	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs566702	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs579668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603963	1.00[ASN][1000 genomes]
rs6603967	1.00[ASN][1000 genomes]
rs6604089	1.00[ASN][1000 genomes]
rs6604091	1.00[ASN][1000 genomes]
rs6668685	1.00[ASN][1000 genomes]
rs6692060	1.00[ASN][1000 genomes]
rs7512301	1.00[ASN][1000 genomes]
rs7542747	1.00[ASN][1000 genomes]
rs7545445	1.00[ASN][1000 genomes]
rs974924	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv871415	chr1:92340684-92641607	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv871144	chr1:92380302-92641607	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv546821	chr1:92525678-92650349	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92555200-92620400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:92561200-92619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:92567200-92624200	Weak transcription	Fetal Stomach	stomach
4	chr1:92570000-92619600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:92590200-92624400	Weak transcription	Psoas Muscle	Psoas
6	chr1:92597600-92621000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:92601200-92634400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:92602200-92620000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:92606800-92620000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:92609800-92651200	Weak transcription	Fetal Kidney	kidney
11	chr1:92612000-92620200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:92612200-92623000	Weak transcription	Right Ventricle	heart
13	chr1:92612200-92626000	Weak transcription	Thymus	Thymus
14	chr1:92612400-92619800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:92613400-92645400	Weak transcription	Gastric	stomach
16	chr1:92614000-92627600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:92614400-92620400	Weak transcription	Fetal Intestine Large	intestine
18	chr1:92614600-92619600	Weak transcription	Brain Anterior Caudate	brain
19	chr1:92614600-92625800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:92614800-92623200	Weak transcription	Aorta	Aorta
21	chr1:92614800-92624400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:92615000-92620200	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:92615600-92619600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:92615600-92619600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:92615600-92622800	Weak transcription	Spleen	Spleen
26	chr1:92615600-92626000	Weak transcription	Brain Angular Gyrus	brain
27	chr1:92615600-92646000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:92615800-92619800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:92616400-92620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:92616600-92619600	Weak transcription	Adipose Nuclei	Adipose
31	chr1:92616600-92619600	Weak transcription	Liver	Liver
32	chr1:92616600-92620000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:92616600-92620400	Weak transcription	Dnd41	blood
34	chr1:92616800-92620200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:92616800-92625000	Weak transcription	Fetal Lung	lung
36	chr1:92619000-92619600	ZNF genes & repeats	Brain Substantia Nigra	brain
37	chr1:92619000-92619800	ZNF genes & repeats	Left Ventricle	heart
38	chr1:92619000-92619800	ZNF genes & repeats	Pancreas	Pancrea
39	chr1:92619000-92620000	Strong transcription	Ovary	ovary
40	chr1:92619200-92619800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr1:92619400-92619800	ZNF genes & repeats	Esophagus	oesophagus
42	chr1:92619400-92619800	ZNF genes & repeats	Placenta	Placenta
43	chr1:92619400-92619800	ZNF genes & repeats	Lung	lung
44	chr1:92619400-92620600	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr1:92619400-92620800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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