Variant report

Variant	rs7711888
Chromosome Location	chr5:114574966-114574967
allele	C/T
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:43)

rs_ID	r²[population]
rs17132480	1.00[AFR][1000 genomes]
rs17137549	1.00[AFR][1000 genomes]
rs17137556	1.00[AFR][1000 genomes]
rs17137563	1.00[AFR][1000 genomes]
rs35940728	0.92[AFR][1000 genomes]
rs57979677	0.82[AFR][1000 genomes]
rs58955791	1.00[AFR][1000 genomes]
rs59891755	0.92[AFR][1000 genomes]
rs59955726	1.00[AFR][1000 genomes]
rs60460575	1.00[AFR][1000 genomes]
rs73253428	0.84[AFR][1000 genomes]
rs73253432	1.00[AFR][1000 genomes]
rs73253434	1.00[AFR][1000 genomes]
rs73253440	1.00[AFR][1000 genomes]
rs73253463	1.00[AFR][1000 genomes]
rs73253466	1.00[AFR][1000 genomes]
rs73255427	1.00[AFR][1000 genomes]
rs73255447	1.00[AFR][1000 genomes]
rs73255479	1.00[AFR][1000 genomes]
rs73255484	1.00[AFR][1000 genomes]
rs73255489	1.00[AFR][1000 genomes]
rs73255491	1.00[AFR][1000 genomes]
rs73255494	1.00[AFR][1000 genomes]
rs73255498	1.00[AFR][1000 genomes]
rs73257403	0.96[AFR][1000 genomes]
rs73257406	1.00[AFR][1000 genomes]
rs73257411	0.93[AFR][1000 genomes]
rs73257413	1.00[AFR][1000 genomes]
rs73257417	0.93[AFR][1000 genomes]
rs73257425	1.00[AFR][1000 genomes]
rs73257437	1.00[AFR][1000 genomes]
rs73257446	0.92[AFR][1000 genomes]
rs73257462	0.92[AFR][1000 genomes]
rs73257485	0.92[AFR][1000 genomes]
rs73257491	0.85[AFR][1000 genomes]
rs73257494	0.85[AFR][1000 genomes]
rs73259410	0.85[AFR][1000 genomes]
rs73259416	0.85[AFR][1000 genomes]
rs73259426	0.85[AFR][1000 genomes]
rs7703973	1.00[AFR][1000 genomes]
rs7724266	1.00[AFR][1000 genomes]
rs7725609	1.00[AFR][1000 genomes]
rs7726219	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1029371	chr5:114541428-114590891	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114523400-114576200	Weak transcription	Psoas Muscle	Psoas
2	chr5:114530600-114594400	Weak transcription	Pancreas	Pancrea
3	chr5:114539200-114580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:114542000-114575800	Weak transcription	Small Intestine	intestine
5	chr5:114543800-114577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:114546800-114575600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:114546800-114578000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:114547600-114577600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:114547800-114578400	Weak transcription	Esophagus	oesophagus
10	chr5:114547800-114596600	Weak transcription	Brain Germinal Matrix	brain
11	chr5:114548400-114596800	Weak transcription	K562	blood
12	chr5:114548800-114575400	Weak transcription	Brain Substantia Nigra	brain
13	chr5:114549400-114597200	Weak transcription	Aorta	Aorta
14	chr5:114550200-114575400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:114552200-114581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:114555800-114579800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:114556200-114578000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:114556400-114575600	Weak transcription	Fetal Brain Male	brain
19	chr5:114557000-114577400	Weak transcription	Fetal Heart	heart
20	chr5:114557800-114579400	Weak transcription	Gastric	stomach
21	chr5:114558000-114579400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:114559000-114587600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:114559400-114578200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:114559400-114579400	Weak transcription	Spleen	Spleen
25	chr5:114560600-114577400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr5:114562400-114577600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:114562400-114577600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:114563200-114578400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:114563400-114575400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:114563400-114578600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:114563400-114591600	Weak transcription	Brain Anterior Caudate	brain
32	chr5:114563400-114597600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:114565000-114575000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:114565000-114575600	Weak transcription	HSMMtube	muscle
35	chr5:114565200-114597400	Weak transcription	Colonic Mucosa	Colon
36	chr5:114565800-114575400	Weak transcription	Fetal Brain Female	brain
37	chr5:114566000-114576200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:114566600-114575400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:114566800-114575400	Weak transcription	NH-A	brain
40	chr5:114567400-114590600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr5:114567600-114575400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:114567800-114589800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:114568200-114575400	Weak transcription	Osteobl	bone
44	chr5:114568800-114577600	Weak transcription	NHEK	skin
45	chr5:114569000-114575200	Weak transcription	Hela-S3	cervix
46	chr5:114569600-114577600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:114569600-114578000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:114569600-114578200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:114569800-114577200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr5:114570000-114577000	Strong transcription	Rectal Mucosa Donor 31	rectum

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