Variant report

Variant	rs163194
Chromosome Location	chr5:68387645-68387646
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr5:68387519-68387767	K562	blood:	n/a	n/a
2	IRF1	chr5:68387115-68387751	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68387450..68391238-chr5:68664593..68668133,5	MCF-7	breast:

Variant related genes	Relation type
SLC30A5	TF binding region
ENSG00000085231	Chromatin interaction
ENSG00000152942	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10056618	0.92[ASN][1000 genomes]
rs163191	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs163192	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs163193	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs164391	0.93[ASN][1000 genomes]
rs164394	0.92[ASN][1000 genomes]
rs164396	0.92[ASN][1000 genomes]
rs164572	0.92[ASN][1000 genomes]
rs164577	0.92[ASN][1000 genomes]
rs164578	0.92[ASN][1000 genomes]
rs164579	0.92[ASN][1000 genomes]
rs164580	0.93[ASN][1000 genomes]
rs164581	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs164710	0.95[ASN][1000 genomes]
rs164712	0.94[ASN][1000 genomes]
rs186790	0.91[ASN][1000 genomes]
rs187043	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs240809	0.92[ASN][1000 genomes]
rs2447794	0.87[ASN][1000 genomes]
rs337253	0.92[ASN][1000 genomes]
rs337256	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs337259	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs337262	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs338668	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs338678	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs350110	0.81[ASN][1000 genomes]
rs350111	0.92[ASN][1000 genomes]
rs350112	0.92[ASN][1000 genomes]
rs351432	0.92[ASN][1000 genomes]
rs420228	0.92[ASN][1000 genomes]
rs570884	0.92[ASN][1000 genomes]
rs688674	0.81[ASN][1000 genomes]
rs9291940	0.92[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	chr5:68385800-68387800	Enhancers	Fetal Heart	heart
4	chr5:68386200-68389400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:68386400-68389400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:68386400-68389400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:68386400-68389400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:68387000-68388000	Enhancers	Osteobl	bone
9	chr5:68387200-68387800	Enhancers	HSMMtube	muscle
10	chr5:68387200-68389000	Weak transcription	A549	lung
11	chr5:68387200-68389400	Weak transcription	Liver	Liver
12	chr5:68387200-68389600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:68387400-68389000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:68387400-68389200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:68387400-68389200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:68387400-68389400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:68387400-68389400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:68387400-68389400	Weak transcription	HMEC	breast
19	chr5:68387400-68389400	Enhancers	K562	blood
20	chr5:68387400-68389400	Weak transcription	NH-A	brain
21	chr5:68387400-68389400	Weak transcription	NHEK	skin
22	chr5:68387400-68389800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:68387600-68388800	Weak transcription	HepG2	liver
24	chr5:68387600-68389000	Weak transcription	GM12878-XiMat	blood
25	chr5:68387600-68389200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:68387600-68389400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:68387600-68389400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:68387600-68389400	Weak transcription	HSMM	muscle
29	chr5:68387600-68389800	Weak transcription	Right Ventricle	heart

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