Variant report

Variant	rs66468220
Chromosome Location	chr5:96206563-96206564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96172229..96173796-chr5:96204586..96206613,2	K562	blood:
2	chr5:96199433..96201325-chr5:96205570..96208444,2	K562	blood:
3	chr5:96204788..96206929-chr5:96267621..96272752,5	K562	blood:
4	chr5:96204918..96207488-chr5:96270390..96272752,3	K562	blood:
5	chr5:96206383..96208516-chr5:96269895..96273109,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4092590	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs66468220	ERAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs66468220	ERAP1	cis	Whole Blood	GTEx
rs66468220	ERAP1	cis	lung	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96196600-96211400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:96201200-96210200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:96202000-96211400	Weak transcription	Liver	Liver
4	chr5:96202600-96209600	Weak transcription	Fetal Intestine Large	intestine
5	chr5:96203000-96211400	Weak transcription	Stomach Mucosa	stomach
6	chr5:96204200-96207600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr5:96204400-96207600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:96204600-96206800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:96204600-96208000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:96204600-96208400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr5:96204600-96208600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:96204600-96208800	Enhancers	Primary B cells from peripheral blood	blood
13	chr5:96204800-96206600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:96204800-96206600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:96204800-96207200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:96204800-96207200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:96204800-96207400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:96204800-96207600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:96204800-96207800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:96204800-96208200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr5:96204800-96208600	Enhancers	Primary B cells from cord blood	blood
22	chr5:96204800-96211600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr5:96205000-96206800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:96205000-96209600	Weak transcription	Fetal Intestine Small	intestine
25	chr5:96205000-96211400	Weak transcription	Brain Angular Gyrus	brain
26	chr5:96205200-96206600	Enhancers	HMEC	breast
27	chr5:96205200-96207200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:96205400-96206800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:96205400-96207000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:96205400-96207000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:96205400-96207200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:96205400-96207400	Flanking Active TSS	GM12878-XiMat	blood
33	chr5:96205400-96207600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:96205600-96207200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:96205600-96211400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:96205800-96207000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr5:96205800-96207000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:96205800-96207000	Enhancers	Fetal Thymus	thymus
39	chr5:96205800-96207000	Enhancers	HepG2	liver
40	chr5:96205800-96207400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr5:96205800-96208600	Enhancers	Primary T cells from cord blood	blood
42	chr5:96206000-96206800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:96206000-96207000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:96206000-96207200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:96206000-96207200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:96206000-96207200	Enhancers	Brain Hippocampus Middle	brain
47	chr5:96206000-96208200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr5:96206200-96206600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:96206200-96207200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr5:96206200-96207200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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