Variant report

Variant	rs17328637
Chromosome Location	chr5:93959165-93959166
allele	A/G
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	POLR2A	chr5:93956795-93960610	Hela-S3	cervix:	n/a	n/a
2	ZNF384	chr5:93959087-93959187	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:93958577..93960798-chr5:93964333..93967192,2	K562	blood:
2	chr5:93952095..93956001-chr5:93957512..93961015,6	MCF-7	breast:
3	chr5:93958271..93960232-chr5:94030096..94032055,2	K562	blood:

Variant related genes	Relation type
KIAA0825	TF binding region
ENSG00000185261	Chromatin interaction
ENSG00000270133	Chromatin interaction
ENSG00000133302	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11135407	0.85[MKK][hapmap]
rs1124668	0.85[MKK][hapmap]
rs12655521	0.85[MKK][hapmap]
rs12659597	0.85[MKK][hapmap]
rs1376713	0.90[CEU][hapmap]
rs1451735	0.85[MKK][hapmap]
rs1549180	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083807	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs17327757	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328137	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328296	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328331	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328400	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328434	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328525	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328588	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17387486	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029910	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173020	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56730205	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56813337	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57412880	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58306231	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58408645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59077119	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60307858	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61141017	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61427096	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868707	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs6891545	0.85[MKK][hapmap]
rs6898151	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132656	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132666	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132677	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132681	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132682	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132683	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132688	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132692	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132693	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132701	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133904	0.89[AMR][1000 genomes]
rs73134674	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134683	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134693	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134696	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73140270	0.88[EUR][1000 genomes]
rs73140284	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73140285	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73144155	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144170	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73144175	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73144177	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73144193	0.90[EUR][1000 genomes]
rs73145094	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150143	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73150166	0.83[AMR][1000 genomes]
rs73150174	0.89[AMR][1000 genomes]
rs7446179	0.85[MKK][hapmap]
rs9791080	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv534495	chr5:93789736-93962131	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv462254	chr5:93956937-94056825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv598953	chr5:93956937-94056825	ZNF genes & repeats Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93955000-93962400	Weak transcription	Pancreas	Pancrea
2	chr5:93955000-93995400	Weak transcription	Gastric	stomach
3	chr5:93955200-93962400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:93955200-93966200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:93955200-93966200	Weak transcription	Left Ventricle	heart
6	chr5:93955400-93962400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:93955400-93962400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:93955400-93965400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:93955400-93966000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:93955400-93966600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:93955400-93968400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:93955400-93973000	Weak transcription	Ovary	ovary
13	chr5:93955400-93973000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:93955600-93964600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:93955600-93964600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:93955600-93964600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:93955600-93965000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:93955600-93965200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr5:93955600-93965400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:93955600-93966000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:93955600-93966000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:93955600-93966000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:93955600-93966000	Weak transcription	Adipose Nuclei	Adipose
24	chr5:93955600-93966000	Weak transcription	Fetal Intestine Large	intestine
25	chr5:93955600-93966000	Weak transcription	HSMM	muscle
26	chr5:93955600-93966400	Weak transcription	Brain Anterior Caudate	brain
27	chr5:93955600-93972000	Weak transcription	Primary T cells from cord blood	blood
28	chr5:93955600-93974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:93955600-93975200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:93955600-93975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:93955600-93990800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:93955800-93964600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:93955800-93964600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:93955800-93964800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:93955800-93965200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:93955800-93965400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:93955800-93965400	Weak transcription	Brain Germinal Matrix	brain
38	chr5:93955800-93965400	Weak transcription	Fetal Brain Female	brain
39	chr5:93955800-93965400	Weak transcription	Fetal Stomach	stomach
40	chr5:93955800-93966200	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:93955800-93966600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:93955800-93967400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr5:93955800-93969000	Weak transcription	Placenta	Placenta
44	chr5:93955800-93969400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:93955800-93973000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:93955800-93973200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:93955800-93974000	Weak transcription	HMEC	breast
48	chr5:93955800-93995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:93955800-94027600	Weak transcription	NH-A	brain
50	chr5:93956000-93959600	Weak transcription	HUVEC	blood vessel

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