Variant report

Variant	rs58989958
Chromosome Location	chr5:16711780-16711781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16710425..16712025-chr5:16715112..16717325,2	MCF-7	breast:
2	chr5:16710355..16712259-chr5:16729265..16730891,2	MCF-7	breast:
3	chr5:16710511..16712178-chr5:16712556..16714357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2288440	0.95[EUR][1000 genomes]
rs2288441	0.89[EUR][1000 genomes]
rs2288442	0.94[EUR][1000 genomes]
rs3849106	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3849107	0.90[EUR][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	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16663000-16712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
4	chr5:16675800-16713600	Weak transcription	Left Ventricle	heart
5	chr5:16681600-16713200	Weak transcription	Small Intestine	intestine
6	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:16690200-16713200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:16701800-16713400	Weak transcription	Right Ventricle	heart
9	chr5:16705000-16711800	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr5:16705000-16712400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:16705200-16713400	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:16705600-16712200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:16705800-16711800	Strong transcription	Fetal Intestine Small	intestine
14	chr5:16709200-16711800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:16709200-16712800	Weak transcription	Liver	Liver
16	chr5:16709800-16713600	Weak transcription	Colonic Mucosa	Colon
17	chr5:16710000-16712800	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:16710400-16723600	Weak transcription	Esophagus	oesophagus
19	chr5:16710800-16711800	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:16711000-16712400	Weak transcription	NHDF-Ad	bronchial
21	chr5:16711000-16712800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:16711000-16713200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:16711200-16711800	Enhancers	Brain Substantia Nigra	brain
24	chr5:16711200-16712400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:16711200-16712400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:16711200-16712400	Weak transcription	Adipose Nuclei	Adipose
27	chr5:16711200-16712400	Enhancers	Brain Germinal Matrix	brain
28	chr5:16711200-16712400	Enhancers	Brain Hippocampus Middle	brain
29	chr5:16711200-16713200	Weak transcription	Stomach Mucosa	stomach
30	chr5:16711200-16713400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:16711200-16713400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr5:16711200-16713600	Weak transcription	Aorta	Aorta
33	chr5:16711200-16713600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:16711200-16713600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:16711200-16719000	Weak transcription	Lung	lung
36	chr5:16711200-16719400	Weak transcription	Pancreas	Pancrea
37	chr5:16711200-16723800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:16711200-16736400	Weak transcription	Hela-S3	cervix
39	chr5:16711400-16711800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr5:16711400-16711800	Weak transcription	Fetal Brain Female	brain
41	chr5:16711400-16712200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:16711400-16712200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr5:16711400-16712200	Weak transcription	Fetal Lung	lung
44	chr5:16711400-16712400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:16711400-16712400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr5:16711400-16712400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:16711400-16712400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:16711400-16712400	Weak transcription	Brain Angular Gyrus	brain
49	chr5:16711400-16712400	Weak transcription	Brain Anterior Caudate	brain
50	chr5:16711400-16712400	Weak transcription	Fetal Muscle Leg	muscle

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