Variant report

Variant	rs4718126
Chromosome Location	chr7:64289545-64289546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10236712	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236731	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10251093	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10251096	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255015	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255285	1.00[AMR][1000 genomes]
rs10266341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10266823	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10266953	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267569	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267592	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10275714	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282236	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11978309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11979200	0.85[AFR][1000 genomes]
rs12155450	1.00[AMR][1000 genomes]
rs12671429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13237903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13247714	1.00[AMR][1000 genomes]
rs1464925	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1464926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1525811	1.00[AMR][1000 genomes]
rs1568913	0.80[AFR][1000 genomes]
rs1815165	0.94[AFR][1000 genomes]
rs1815168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1852205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1852206	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1976918	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2015938	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2418462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2418463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2418464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3983288	0.91[AFR][1000 genomes]
rs3983289	0.91[AFR][1000 genomes]
rs4236203	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4327747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4327748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4429995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4483043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4579410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4613867	0.83[AFR][1000 genomes]
rs4639394	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4717214	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4717215	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4717218	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718118	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718119	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718120	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718121	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718128	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718132	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718136	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718137	0.97[AFR][1000 genomes]
rs55960866	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6460187	1.00[AMR][1000 genomes]
rs6460188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6460189	0.80[AFR][1000 genomes]
rs6460190	1.00[AMR][1000 genomes]
rs6460191	1.00[AFR][1000 genomes]
rs6460193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6460194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6942695	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6943322	1.00[AMR][1000 genomes]
rs6943573	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951133	1.00[AMR][1000 genomes]
rs6951316	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6953310	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6957671	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6964400	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6965217	1.00[AMR][1000 genomes]
rs6971507	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6976049	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6976060	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7785568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7786441	0.82[AFR][1000 genomes]
rs7787588	0.80[AFR][1000 genomes]
rs7789308	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7790245	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7791652	0.97[AFR][1000 genomes]
rs7791673	0.80[AFR][1000 genomes]
rs7791951	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7799440	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7808059	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7809431	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7810921	1.00[AMR][1000 genomes]
rs9654821	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9654823	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9654824	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9718984	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
7	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
8	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
9	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
12	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv888281	chr7:64250409-64295884	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1033291	chr7:64273434-64406276	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
16	nsv508457	chr7:64286522-64391112	Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64255800-64293200	Weak transcription	NH-A	brain
2	chr7:64255800-64293400	Weak transcription	Psoas Muscle	Psoas
3	chr7:64256000-64294400	Weak transcription	Fetal Kidney	kidney
4	chr7:64256800-64292200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:64260600-64292400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:64260800-64291400	Weak transcription	Liver	Liver
7	chr7:64261000-64295400	Weak transcription	Osteobl	bone
8	chr7:64262800-64291400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:64268600-64296000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:64268800-64292200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:64268800-64293400	Weak transcription	Brain Angular Gyrus	brain
12	chr7:64272400-64291200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:64272400-64292800	Weak transcription	Brain Anterior Caudate	brain
14	chr7:64272600-64291200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:64272800-64291800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:64272800-64295200	Weak transcription	Fetal Thymus	thymus
17	chr7:64273000-64291200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:64273000-64292800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:64273200-64290600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr7:64273400-64301400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:64273600-64291400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:64273600-64292200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr7:64273800-64291800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:64275600-64294000	Weak transcription	Fetal Brain Male	brain
25	chr7:64276200-64291200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:64276600-64291400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:64277800-64292200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:64278000-64290400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:64278000-64291800	Weak transcription	HSMM	muscle
30	chr7:64278000-64293000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:64280600-64290200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:64284000-64291200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:64284000-64291400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:64284000-64292400	Weak transcription	Ovary	ovary
35	chr7:64284200-64291400	Weak transcription	Adipose Nuclei	Adipose
36	chr7:64284600-64295800	Weak transcription	Brain Germinal Matrix	brain
37	chr7:64284800-64290400	Weak transcription	Primary T cells from cord blood	blood
38	chr7:64284800-64290800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:64284800-64291200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:64284800-64291200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:64284800-64291200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:64284800-64291200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:64284800-64291600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:64284800-64293000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:64284800-64293000	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:64284800-64294200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:64284800-64299800	Weak transcription	Pancreas	Pancrea
48	chr7:64285000-64291200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:64285000-64291400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:64285000-64291400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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