Variant report

Variant	rs73123687
Chromosome Location	chr5:79405767-79405768
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11741152	0.93[ASN][1000 genomes]
rs16877496	0.93[ASN][1000 genomes]
rs16877502	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16877503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61127997	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62363993	0.85[ASN][1000 genomes]
rs6863009	0.80[ASN][1000 genomes]
rs73123675	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73123676	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73123678	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73123679	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73123682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73123686	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73123694	0.93[ASN][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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv598744	chr5:79388745-79423347	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79389400-79412200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:79389800-79411800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:79393400-79410800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:79396000-79406200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:79399400-79411000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:79402400-79410400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:79402400-79412200	Weak transcription	Left Ventricle	heart
8	chr5:79402600-79406200	Weak transcription	Pancreas	Pancrea
9	chr5:79403000-79413000	Weak transcription	Dnd41	blood
10	chr5:79403800-79408000	Enhancers	Fetal Brain Male	brain
11	chr5:79404000-79409800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr5:79404000-79411000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:79404400-79405800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:79404400-79407800	Enhancers	Fetal Heart	heart
15	chr5:79404800-79408200	Enhancers	Fetal Thymus	thymus
16	chr5:79404800-79412000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr5:79405000-79405800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:79405000-79406600	Enhancers	Fetal Muscle Leg	muscle
19	chr5:79405000-79406800	Enhancers	Fetal Muscle Trunk	muscle
20	chr5:79405400-79406000	Enhancers	Adipose Nuclei	Adipose
21	chr5:79405400-79406000	Enhancers	Brain Hippocampus Middle	brain
22	chr5:79405400-79406600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:79405400-79406600	Enhancers	Ovary	ovary
24	chr5:79405400-79407400	Enhancers	Fetal Stomach	stomach
25	chr5:79405400-79407600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:79405400-79407800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:79405400-79408000	Enhancers	Fetal Lung	lung
28	chr5:79405400-79408200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:79405400-79408200	Enhancers	Fetal Intestine Large	intestine
30	chr5:79405400-79408200	Enhancers	Fetal Intestine Small	intestine
31	chr5:79405400-79408200	Enhancers	Fetal Kidney	kidney
32	chr5:79405600-79405800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:79405600-79405800	Active TSS	Fetal Brain Female	brain
34	chr5:79405600-79406000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:79405600-79406000	Enhancers	Right Atrium	heart
36	chr5:79405600-79406000	Enhancers	Thymus	Thymus
37	chr5:79405600-79406000	Enhancers	GM12878-XiMat	blood
38	chr5:79405600-79406200	Enhancers	Right Ventricle	heart
39	chr5:79405600-79406400	Enhancers	Primary B cells from cord blood	blood
40	chr5:79405600-79406400	Enhancers	Brain Anterior Caudate	brain
41	chr5:79405600-79406400	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr5:79405600-79406400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr5:79405600-79406600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:79405600-79406600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:79405600-79406600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:79405600-79406600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:79405600-79406600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:79405600-79406600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:79405600-79406600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:79405600-79406600	Enhancers	Primary T cells from cord blood	blood

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