Variant report

Variant	rs17387486
Chromosome Location	chr5:93956159-93956160
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	chr5:93951720-93956311	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr5:93955977-93956329	A549	lung:	n/a	chr5:93956154-93956163 chr5:93956154-93956163 chr5:93956152-93956163
3	CEBPB	chr5:93955882-93956347	Hela-S3	cervix:	n/a	chr5:93956154-93956163 chr5:93956154-93956163 chr5:93956152-93956163
4	CEBPB	chr5:93955979-93956307	K562	blood:	n/a	chr5:93956154-93956163 chr5:93956154-93956163 chr5:93956152-93956163
5	USF2	chr5:93955997-93956184	Hela-S3	cervix:	n/a	chr5:93956079-93956100 chr5:93956083-93956096 chr5:93956083-93956094
6	CEBPB	chr5:93955969-93956337	HepG2	liver:	n/a	chr5:93956154-93956163 chr5:93956154-93956163 chr5:93956152-93956163
7	CEBPB	chr5:93955979-93956333	IMR90	lung:	n/a	chr5:93956154-93956163 chr5:93956154-93956163 chr5:93956152-93956163

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:93954931..93957124-chr5:93988357..93990518,2	K562	blood:

Variant related genes	Relation type
ENSG00000270133	TF binding region
KIAA0825	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

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];0.81[TSI][hapmap]
rs1451735	0.85[MKK][hapmap]
rs1549180	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083807	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs17327757	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328137	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[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];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328331	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[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];0.94[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];0.94[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];0.94[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];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328637	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];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173020	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56730205	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56813337	0.82[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	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58408645	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59077119	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60307858	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61141017	0.82[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];0.91[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];0.94[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	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132677	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132681	0.83[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	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132693	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132701	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133904	0.83[AMR][1000 genomes]
rs73134674	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134681	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134683	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134687	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134696	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73140270	0.88[EUR][1000 genomes]
rs73140284	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73140285	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73144155	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144170	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73144175	1.00[EUR][1000 genomes]
rs73144177	0.82[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	0.90[EUR][1000 genomes]
rs73150174	0.83[AMR][1000 genomes]
rs7446179	0.85[MKK][hapmap]
rs9791080	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv598952	chr5:93823951-93956986	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93951000-93957200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:93951800-93956200	Active TSS	Hela-S3	cervix
3	chr5:93953000-93956200	Active TSS	K562	blood
4	chr5:93955000-93962400	Weak transcription	Pancreas	Pancrea
5	chr5:93955000-93995400	Weak transcription	Gastric	stomach
6	chr5:93955200-93957400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:93955200-93957600	Weak transcription	Psoas Muscle	Psoas
8	chr5:93955200-93962400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:93955200-93966200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:93955200-93966200	Weak transcription	Left Ventricle	heart
11	chr5:93955400-93956200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:93955400-93956200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr5:93955400-93956200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:93955400-93956200	Enhancers	Fetal Brain Male	brain
15	chr5:93955400-93957200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:93955400-93962400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:93955400-93962400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:93955400-93965400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:93955400-93966000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:93955400-93966600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr5:93955400-93968400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:93955400-93973000	Weak transcription	Ovary	ovary
23	chr5:93955400-93973000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:93955600-93956200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:93955600-93956200	Enhancers	NHEK	skin
26	chr5:93955600-93957000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:93955600-93957000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:93955600-93957000	Weak transcription	NHDF-Ad	bronchial
29	chr5:93955600-93957600	Weak transcription	Osteobl	bone
30	chr5:93955600-93957800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:93955600-93958600	Weak transcription	NHLF	lung
32	chr5:93955600-93964600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:93955600-93964600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:93955600-93964600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:93955600-93965000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:93955600-93965200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr5:93955600-93965400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:93955600-93966000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:93955600-93966000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:93955600-93966000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:93955600-93966000	Weak transcription	Adipose Nuclei	Adipose
42	chr5:93955600-93966000	Weak transcription	Fetal Intestine Large	intestine
43	chr5:93955600-93966000	Weak transcription	HSMM	muscle
44	chr5:93955600-93966400	Weak transcription	Brain Anterior Caudate	brain
45	chr5:93955600-93972000	Weak transcription	Primary T cells from cord blood	blood
46	chr5:93955600-93974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr5:93955600-93975200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr5:93955600-93975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:93955600-93990800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:93955800-93956200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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