Variant report

Variant	rs59734653
Chromosome Location	chr5:68388511-68388512
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68388349..68391314-chr5:68786934..68789626,2	MCF-7	breast:
2	chr5:68388171..68390847-chr5:68662913..68666552,4	K562	blood:
3	chr5:68387785..68391337-chr5:68461261..68464730,5	K562	blood:
4	chr5:68388226..68392530-chr5:68662317..68667070,8	K562	blood:
5	chr5:68387450..68391238-chr5:68664593..68668133,5	MCF-7	breast:
6	chr5:68388388..68391466-chr5:68512032..68515267,4	MCF-7	breast:
7	chr5:68388464..68391397-chr5:68483791..68487195,4	K562	blood:
8	chr5:68388453..68391488-chr5:68483791..68487092,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134057	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000197822	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10454824	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10940199	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743118	0.86[ASN][1000 genomes]
rs12519270	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522805	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185437	0.94[ASN][1000 genomes]
rs16898486	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16898499	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4976217	0.99[ASN][1000 genomes]
rs58151499	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58575768	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67722222	0.96[ASN][1000 genomes]
rs7718228	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7719198	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7719482	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7733034	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3391099	chr5:68377245-68400350	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68381200-68389400	Weak transcription	HUVEC	blood vessel
2	chr5:68382400-68389800	Weak transcription	Right Atrium	heart
3	chr5:68386200-68389400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:68386400-68389400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:68386400-68389400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:68386400-68389400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:68387200-68389000	Weak transcription	A549	lung
8	chr5:68387200-68389400	Weak transcription	Liver	Liver
9	chr5:68387200-68389600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:68387400-68389000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:68387400-68389200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:68387400-68389200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:68387400-68389400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:68387400-68389400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:68387400-68389400	Weak transcription	HMEC	breast
16	chr5:68387400-68389400	Enhancers	K562	blood
17	chr5:68387400-68389400	Weak transcription	NH-A	brain
18	chr5:68387400-68389400	Weak transcription	NHEK	skin
19	chr5:68387400-68389800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:68387600-68388800	Weak transcription	HepG2	liver
21	chr5:68387600-68389000	Weak transcription	GM12878-XiMat	blood
22	chr5:68387600-68389200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:68387600-68389400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:68387600-68389400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:68387600-68389400	Weak transcription	HSMM	muscle
26	chr5:68387600-68389800	Weak transcription	Right Ventricle	heart
27	chr5:68387800-68388600	Weak transcription	Fetal Heart	heart
28	chr5:68387800-68389400	Weak transcription	HSMMtube	muscle
29	chr5:68388000-68389400	Weak transcription	Osteobl	bone

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