Variant report

Variant	rs7517386
Chromosome Location	chr1:161874146-161874147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10733044	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737502	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10753645	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800068	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394070	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1553444	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1806594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055539	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2134690	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2134696	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2298019	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2341468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2341479	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2499855	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2499856	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880055	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34312480	1.00[ASN][1000 genomes]
rs34461550	0.90[ASN][1000 genomes]
rs35621393	0.94[ASN][1000 genomes]
rs36080602	1.00[ASN][1000 genomes]
rs3767633	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233380	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4300199	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4579731	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4656335	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4656339	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657103	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6427633	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667896	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6685369	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6698065	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701754	0.90[ASN][1000 genomes]
rs71639910	0.98[ASN][1000 genomes]
rs7532448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs924777	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3440913	chr1:161864485-161897210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3353497	chr1:161864505-161897180	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161824200-161928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:161824400-161882000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:161836600-161888400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:161855400-161879000	Weak transcription	Hela-S3	cervix
5	chr1:161859200-161885400	Weak transcription	Psoas Muscle	Psoas
6	chr1:161859400-161882600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:161859400-161882800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:161861200-161881200	Weak transcription	Ovary	ovary
9	chr1:161861400-161874600	Weak transcription	GM12878-XiMat	blood
10	chr1:161861400-161879400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:161861400-161881200	Weak transcription	Aorta	Aorta
12	chr1:161861400-161881800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:161861400-161882000	Weak transcription	Adipose Nuclei	Adipose
14	chr1:161861400-161884000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:161861400-161884000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:161861400-161884400	Weak transcription	Fetal Intestine Large	intestine
17	chr1:161861600-161875000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:161861600-161876400	Weak transcription	HSMMtube	muscle
19	chr1:161861600-161876800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:161861600-161877200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:161861600-161879000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:161861600-161879000	Weak transcription	Thymus	Thymus
23	chr1:161861600-161880000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:161861600-161881000	Weak transcription	Primary B cells from cord blood	blood
25	chr1:161861600-161882400	Weak transcription	Placenta	Placenta
26	chr1:161861600-161882400	Weak transcription	Dnd41	blood
27	chr1:161861600-161883400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:161861600-161883800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:161861600-161884000	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:161861600-161884000	Weak transcription	Left Ventricle	heart
31	chr1:161861600-161884000	Weak transcription	Pancreas	Pancrea
32	chr1:161861600-161884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:161861600-161891400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:161861600-161906400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:161861600-161936000	Weak transcription	Fetal Intestine Small	intestine
36	chr1:161861800-161881400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:161861800-161882400	Weak transcription	Liver	Liver
38	chr1:161861800-161883800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:161862000-161875000	Weak transcription	Primary T cells from cord blood	blood
40	chr1:161862000-161882000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:161862000-161883400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:161862200-161881000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:161862400-161881800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:161863400-161881600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr1:161869400-161877400	Weak transcription	HSMM	muscle
46	chr1:161872400-161880400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:161873400-161874200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:161873600-161874200	Enhancers	A549	lung
49	chr1:161873600-161874400	Enhancers	NHEK	skin
50	chr1:161873600-161875200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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