Variant report

Variant	rs11135481
Chromosome Location	chr5:96205040-96205041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:96204447..96205173-chr5:96478419..96479184,2	MCF-7	breast:
2	chr5:96203033..96206147-chr5:96270349..96272654,3	MCF-7	breast:
3	chr5:96203527..96205559-chr5:96508441..96510333,2	K562	blood:
4	chr5:96172229..96173796-chr5:96204586..96206613,2	K562	blood:
5	chr5:96141806..96143647-chr5:96204562..96206385,2	MCF-7	breast:
6	chr5:96204301..96205271-chr5:96478156..96479015,3	MCF-7	breast:
7	chr5:96204788..96206929-chr5:96267621..96272752,5	K562	blood:
8	chr5:96200864..96206108-chr5:96269461..96273201,7	MCF-7	breast:
9	chr5:96204918..96207488-chr5:96270390..96272752,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000247121	Chromatin interaction
ENSG00000145721	Chromatin interaction
ENSG00000164307	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11746397	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17087180	0.86[CHB][hapmap]
rs27731	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs3733904	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3797787	0.86[CHB][hapmap]
rs3797792	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs3806936	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3806939	0.86[CHB][hapmap]
rs3806941	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3806942	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3806944	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3822679	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3822687	0.85[CHB][hapmap]
rs62376451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62376452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714122	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs7721014	0.86[CHB][hapmap]
rs7733301	0.86[CHB][hapmap]

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
rs11135481	ERAP2	cis	Esophagus Muscularis	GTEx
rs11135481	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs11135481	ERAP2	cis	Whole Blood	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96196600-96211400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:96197400-96205800	Weak transcription	Fetal Thymus	thymus
3	chr5:96199200-96206400	Weak transcription	Dnd41	blood
4	chr5:96201200-96210200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:96201800-96205800	Weak transcription	HepG2	liver
6	chr5:96202000-96211400	Weak transcription	Liver	Liver
7	chr5:96202600-96209600	Weak transcription	Fetal Intestine Large	intestine
8	chr5:96203000-96211400	Weak transcription	Stomach Mucosa	stomach
9	chr5:96203400-96205400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:96204200-96207600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:96204400-96205200	Enhancers	Adipose Nuclei	Adipose
12	chr5:96204400-96205400	Enhancers	Primary T cells from cord blood	blood
13	chr5:96204400-96207600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:96204600-96205200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:96204600-96205600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:96204600-96206800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:96204600-96208000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:96204600-96208400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:96204600-96208600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr5:96204600-96208800	Enhancers	Primary B cells from peripheral blood	blood
21	chr5:96204800-96205400	Enhancers	GM12878-XiMat	blood
22	chr5:96204800-96205600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:96204800-96206400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:96204800-96206600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:96204800-96206600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:96204800-96207200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:96204800-96207200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:96204800-96207400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:96204800-96207600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:96204800-96207800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:96204800-96208200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr5:96204800-96208600	Enhancers	Primary B cells from cord blood	blood
33	chr5:96204800-96211600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr5:96205000-96206000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:96205000-96206800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:96205000-96209600	Weak transcription	Fetal Intestine Small	intestine
37	chr5:96205000-96211400	Weak transcription	Brain Angular Gyrus	brain

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