Variant report

Variant	rs17486915
Chromosome Location	chr5:96244719-96244720
allele	C/T
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	FOXA1	chr5:96244673-96245016	HepG2	liver:	n/a	n/a
2	FOXA2	chr5:96244692-96245021	HepG2	liver:	n/a	n/a
3	FOXA1	chr5:96244650-96245035	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96244061..96247002-chr5:96270287..96272156,2	MCF-7	breast:
2	chr5:96244332..96247286-chr5:96269247..96272076,3	MCF-7	breast:

Variant related genes	Relation type
ERAP2	TF binding region
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10491385	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10491386	0.83[AMR][1000 genomes]
rs10515253	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1057808	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1134681	0.89[AMR][1000 genomes]
rs17087180	0.89[AMR][1000 genomes]
rs17407513	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17407871	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17407899	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17408150	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17409040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17446635	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17446755	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17446769	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17446837	0.83[AMR][1000 genomes]
rs17446907	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17446949	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17486181	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17486481	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17486509	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17486775	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17487132	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17487596	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17531068	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17531164	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17531192	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17531213	0.83[AMR][1000 genomes]
rs17531366	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17628359	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17684739	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3797797	1.00[AFR][1000 genomes]
rs41276275	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41276279	1.00[AFR][1000 genomes]
rs55658367	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55746248	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55767008	1.00[AFR][1000 genomes]
rs55769558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55870170	1.00[AFR][1000 genomes]
rs56002769	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56003936	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56009267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56071818	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56078010	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6862437	0.89[AMR][1000 genomes]
rs6883674	0.89[AMR][1000 genomes]
rs6883859	0.89[AMR][1000 genomes]
rs7714122	0.89[AMR][1000 genomes]
rs7719293	0.83[AMR][1000 genomes]
rs7721014	0.89[AMR][1000 genomes]
rs7728999	0.89[AMR][1000 genomes]
rs7729489	0.89[AMR][1000 genomes]
rs7733301	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96213400-96247000	Weak transcription	Fetal Lung	lung
2	chr5:96217600-96250000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:96218000-96264600	Weak transcription	Right Ventricle	heart
4	chr5:96218600-96259600	Weak transcription	HMEC	breast
5	chr5:96221600-96269200	Weak transcription	Fetal Brain Male	brain
6	chr5:96222000-96268600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:96222400-96247200	Weak transcription	Psoas Muscle	Psoas
8	chr5:96222400-96258200	Weak transcription	Stomach Mucosa	stomach
9	chr5:96225600-96245200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:96225600-96266400	Weak transcription	Gastric	stomach
11	chr5:96229200-96245400	Weak transcription	HSMMtube	muscle
12	chr5:96229600-96245000	Weak transcription	NH-A	brain
13	chr5:96229600-96269600	Weak transcription	Aorta	Aorta
14	chr5:96229800-96256800	Weak transcription	NHEK	skin
15	chr5:96229800-96256800	Weak transcription	Osteobl	bone
16	chr5:96229800-96257000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:96229800-96270000	Weak transcription	Esophagus	oesophagus
18	chr5:96231800-96245000	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:96232600-96258400	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:96233000-96255600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:96233000-96256200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr5:96233600-96246000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:96233600-96247600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:96233800-96256000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr5:96234200-96255600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:96237400-96245200	Weak transcription	Spleen	Spleen
27	chr5:96237400-96269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:96237600-96244800	Weak transcription	Lung	lung
29	chr5:96237600-96250600	Weak transcription	Hela-S3	cervix
30	chr5:96237800-96265000	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:96238400-96256800	Weak transcription	NHDF-Ad	bronchial
32	chr5:96239400-96256800	Weak transcription	HSMM	muscle
33	chr5:96239400-96257200	Weak transcription	NHLF	lung
34	chr5:96239600-96245400	Weak transcription	Ovary	ovary
35	chr5:96239600-96252800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:96239800-96268000	Weak transcription	Colonic Mucosa	Colon
37	chr5:96240200-96253600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:96240400-96244800	Weak transcription	Left Ventricle	heart
39	chr5:96240400-96244800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:96240400-96254200	Strong transcription	GM12878-XiMat	blood
41	chr5:96240600-96244800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:96240600-96256800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:96241000-96244800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr5:96242000-96244800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:96242000-96259800	Weak transcription	Fetal Stomach	stomach
46	chr5:96242200-96255600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr5:96242200-96256000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr5:96242200-96268000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:96242400-96244800	Weak transcription	Placenta	Placenta
50	chr5:96242400-96245000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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