Variant report

Variant	rs72643754
Chromosome Location	chr5:5488821-5488822
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5485235..5487622-chr5:5487665..5490787,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12659887	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60016681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60221804	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62000446	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72643751	0.93[EUR][1000 genomes]
rs72643752	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72643753	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs747515	0.86[EUR][1000 genomes];0.99[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	esv2757981	chr5:5447098-5764620	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2759319	chr5:5447098-5764620	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5433400-5495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:5458600-5495000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:5462400-5494600	Weak transcription	Colonic Mucosa	Colon
4	chr5:5463000-5493800	Weak transcription	Fetal Heart	heart
5	chr5:5465200-5493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:5465200-5495000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:5468000-5494000	Weak transcription	Fetal Brain Male	brain
8	chr5:5470400-5492600	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:5472800-5490600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:5475400-5492400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:5475400-5494000	Weak transcription	Fetal Intestine Small	intestine
12	chr5:5475400-5495000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:5476000-5490000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:5476000-5490800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:5476800-5492600	Weak transcription	A549	lung
16	chr5:5477000-5490800	Weak transcription	Esophagus	oesophagus
17	chr5:5477000-5492600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:5477000-5494000	Weak transcription	Psoas Muscle	Psoas
19	chr5:5477000-5494200	Weak transcription	Fetal Kidney	kidney
20	chr5:5477000-5494400	Weak transcription	Small Intestine	intestine
21	chr5:5477000-5494400	Weak transcription	NHLF	lung
22	chr5:5477000-5494600	Weak transcription	Right Ventricle	heart
23	chr5:5477200-5493800	Weak transcription	NHDF-Ad	bronchial
24	chr5:5477200-5497600	Weak transcription	Brain Angular Gyrus	brain
25	chr5:5478800-5489200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:5479000-5492200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:5481000-5489800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:5481000-5490600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:5481000-5491200	Strong transcription	Adipose Nuclei	Adipose
30	chr5:5481000-5491400	Strong transcription	Dnd41	blood
31	chr5:5481200-5494000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:5481400-5491400	Strong transcription	Hela-S3	cervix
33	chr5:5481600-5489200	Weak transcription	Thymus	Thymus
34	chr5:5481600-5489400	Weak transcription	GM12878-XiMat	blood
35	chr5:5482000-5489200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:5482000-5489200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:5482000-5492400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:5482000-5494000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:5482000-5494000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:5482000-5494200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:5482200-5489200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:5482200-5494000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr5:5482200-5495000	Weak transcription	NHEK	skin
44	chr5:5482400-5491400	Strong transcription	Primary T cells from cord blood	blood
45	chr5:5482600-5491000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr5:5482800-5497600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:5483000-5491000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:5483600-5490800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:5483800-5490600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:5484000-5490200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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