Variant report

Variant	rs4718119
Chromosome Location	chr7:64277260-64277261
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10236712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10251093	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10251096	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255015	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255285	1.00[AMR][1000 genomes]
rs10266341	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10266823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10266953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267569	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10275714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278712	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11978309	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12155450	1.00[AMR][1000 genomes]
rs12671429	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13237903	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13247714	1.00[AMR][1000 genomes]
rs1446884	1.00[AMR][1000 genomes]
rs1446885	1.00[AMR][1000 genomes]
rs1464925	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1464926	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1525811	1.00[AMR][1000 genomes]
rs1815165	0.87[AFR][1000 genomes]
rs1815168	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1852205	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1852206	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1976918	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2015938	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2418462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2418463	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2418464	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3983288	0.84[AFR][1000 genomes]
rs3983289	0.84[AFR][1000 genomes]
rs4236203	1.00[AMR][1000 genomes]
rs4327747	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4327748	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4429995	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4483043	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4490718	1.00[AMR][1000 genomes]
rs4579410	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4639394	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4717214	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4717215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4717218	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718117	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718126	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718128	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718132	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718133	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718134	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718136	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4718137	0.90[AFR][1000 genomes]
rs55960866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61740107	1.00[AMR][1000 genomes]
rs6460187	1.00[AMR][1000 genomes]
rs6460188	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6460190	1.00[AMR][1000 genomes]
rs6460191	0.93[AFR][1000 genomes]
rs6460193	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6460194	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6942695	1.00[AMR][1000 genomes]
rs6943322	1.00[AMR][1000 genomes]
rs6943573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951133	1.00[AMR][1000 genomes]
rs6951316	1.00[AMR][1000 genomes]
rs6953310	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956506	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6957671	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6964400	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6965217	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971507	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6976049	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6976060	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7785568	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7789308	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7790245	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7791652	0.90[AFR][1000 genomes]
rs7791951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7799440	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7808059	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7809431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7810921	1.00[AMR][1000 genomes]
rs9654821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9654823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9654824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9718984	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64255800-64278800	Weak transcription	Placenta	Placenta
2	chr7:64255800-64293200	Weak transcription	NH-A	brain
3	chr7:64255800-64293400	Weak transcription	Psoas Muscle	Psoas
4	chr7:64256000-64285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:64256000-64294400	Weak transcription	Fetal Kidney	kidney
6	chr7:64256800-64278800	Weak transcription	Spleen	Spleen
7	chr7:64256800-64283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:64256800-64283800	Weak transcription	Pancreas	Pancrea
9	chr7:64256800-64286200	Weak transcription	Brain Substantia Nigra	brain
10	chr7:64256800-64292200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:64257400-64283600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:64260600-64286200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:64260600-64288800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:64260600-64292400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:64260800-64277400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:64260800-64284000	Weak transcription	Left Ventricle	heart
17	chr7:64260800-64284400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:64260800-64286400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:64260800-64288600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:64260800-64291400	Weak transcription	Liver	Liver
21	chr7:64261000-64295400	Weak transcription	Osteobl	bone
22	chr7:64262800-64291400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:64263400-64284000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:64265400-64286400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:64266200-64277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:64266200-64277400	Weak transcription	Thymus	Thymus
27	chr7:64268600-64279000	Weak transcription	HepG2	liver
28	chr7:64268600-64286200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:64268600-64296000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:64268800-64279400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:64268800-64292200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:64268800-64293400	Weak transcription	Brain Angular Gyrus	brain
33	chr7:64269000-64286200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:64271000-64278200	Strong transcription	Dnd41	blood
35	chr7:64271200-64277800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:64271400-64278200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:64271800-64278000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:64272400-64291200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:64272400-64292800	Weak transcription	Brain Anterior Caudate	brain
40	chr7:64272600-64286200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:64272600-64291200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:64272800-64277400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:64272800-64277400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr7:64272800-64277600	Weak transcription	Fetal Intestine Small	intestine
45	chr7:64272800-64283800	Weak transcription	Fetal Intestine Large	intestine
46	chr7:64272800-64284400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:64272800-64284400	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:64272800-64291800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:64272800-64295200	Weak transcription	Fetal Thymus	thymus
50	chr7:64273000-64277400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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