Variant report

Variant	rs59753442
Chromosome Location	chr5:90449650-90449651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90448383..90450478-chr5:90677670..90679995,2	K562	blood:
2	chr5:90445087..90447807-chr5:90449129..90450993,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10065773	1.00[EUR][1000 genomes]
rs16869400	1.00[EUR][1000 genomes]
rs16869402	1.00[EUR][1000 genomes]
rs16869424	1.00[EUR][1000 genomes]
rs16869431	1.00[EUR][1000 genomes]
rs16869437	1.00[EUR][1000 genomes]
rs16869489	1.00[EUR][1000 genomes]
rs6452943	1.00[EUR][1000 genomes]
rs6879069	1.00[EUR][1000 genomes]
rs6897191	1.00[EUR][1000 genomes]
rs7702079	1.00[EUR][1000 genomes]
rs7702715	1.00[EUR][1000 genomes]
rs7712139	1.00[EUR][1000 genomes]
rs7712353	1.00[EUR][1000 genomes]
rs7722301	1.00[EUR][1000 genomes]
rs7723655	1.00[EUR][1000 genomes]
rs7726939	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7731268	1.00[AMR][1000 genomes];1.00[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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90442400-90471600	Weak transcription	Brain Germinal Matrix	brain
2	chr5:90442600-90458400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:90446200-90451600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:90446200-90455600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:90446200-90456200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:90446200-90457800	Weak transcription	Brain Angular Gyrus	brain
7	chr5:90446200-90457800	Weak transcription	Brain Anterior Caudate	brain
8	chr5:90446200-90458000	Weak transcription	Aorta	Aorta
9	chr5:90446200-90458200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:90446200-90458200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:90446200-90458200	Weak transcription	Fetal Brain Male	brain
12	chr5:90446200-90459600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:90446200-90467200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:90446200-90467200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:90446200-90471600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:90446200-90472200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:90446800-90451600	Weak transcription	HUVEC	blood vessel
18	chr5:90447000-90451800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr5:90447400-90450200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:90447400-90451000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:90448000-90453400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:90448000-90453600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:90448000-90456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:90448200-90457800	Weak transcription	Adipose Nuclei	Adipose
25	chr5:90448200-90458600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:90448400-90449800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:90448400-90457800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:90448400-90457800	Weak transcription	K562	blood
29	chr5:90449000-90449800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:90449000-90450800	Enhancers	Ovary	ovary
31	chr5:90449200-90449800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:90449200-90450000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:90449400-90450000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:90449600-90456400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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