Variant report

Variant	rs7712353
Chromosome Location	chr5:90427829-90427830
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	chr5:90422108..90424996-chr5:90425060..90427954,3	K562	blood:
2	chr5:90418737..90421157-chr5:90426368..90428230,2	K562	blood:

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]
rs59753442	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]
rs7722301	1.00[EUR][1000 genomes]
rs7723655	1.00[EUR][1000 genomes]
rs7726939	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7731268	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90401600-90431800	Weak transcription	K562	blood
2	chr5:90403000-90431600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:90403200-90431600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:90416000-90430000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:90418600-90435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:90419800-90431400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:90422800-90440600	Weak transcription	Fetal Kidney	kidney
8	chr5:90423000-90428400	Weak transcription	Gastric	stomach
9	chr5:90423000-90431000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:90423400-90431600	Weak transcription	Right Atrium	heart
11	chr5:90423600-90440400	Weak transcription	Brain Angular Gyrus	brain
12	chr5:90424000-90430000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:90424000-90431600	Weak transcription	NH-A	brain
14	chr5:90424600-90431600	Weak transcription	Esophagus	oesophagus
15	chr5:90424600-90431600	Weak transcription	Pancreas	Pancrea
16	chr5:90424600-90431600	Weak transcription	Hela-S3	cervix
17	chr5:90424600-90435200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:90424600-90440200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:90425000-90431600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:90425400-90429000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:90425400-90437000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:90425400-90440200	Weak transcription	Brain Germinal Matrix	brain
23	chr5:90425800-90431400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:90426800-90430200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:90427600-90428200	Enhancers	A549	lung

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