Variant report

Variant	rs30334
Chromosome Location	chr5:96137496-96137497
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	chr5:96137439-96137798	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96129620..96132075-chr5:96136043..96138068,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272109	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs149189	0.88[ASN][1000 genomes]
rs151940	0.86[ASN][1000 genomes]
rs151964	0.87[ASN][1000 genomes]
rs246453	0.84[ASN][1000 genomes]
rs246454	0.84[ASN][1000 genomes]
rs246455	0.84[ASN][1000 genomes]
rs26489	0.87[ASN][1000 genomes]
rs26490	0.88[ASN][1000 genomes]
rs26491	0.87[ASN][1000 genomes]
rs26495	0.88[ASN][1000 genomes]
rs26496	0.88[ASN][1000 genomes]
rs26497	0.88[ASN][1000 genomes]
rs26498	0.88[ASN][1000 genomes]
rs26500	0.87[ASN][1000 genomes]
rs26510	0.87[ASN][1000 genomes]
rs26512	0.86[ASN][1000 genomes]
rs27045	0.88[ASN][1000 genomes]
rs27434	0.87[ASN][1000 genomes]
rs27529	0.87[ASN][1000 genomes]
rs27640	0.87[ASN][1000 genomes]
rs27710	0.87[ASN][1000 genomes]
rs28119	0.87[ASN][1000 genomes]
rs28333	0.87[ASN][1000 genomes]
rs28337	0.87[ASN][1000 genomes]
rs30185	0.87[ASN][1000 genomes]
rs30186	0.87[ASN][1000 genomes]
rs30187	0.87[ASN][1000 genomes]
rs30378	0.84[ASN][1000 genomes]
rs30379	0.84[ASN][1000 genomes]
rs30380	0.84[ASN][1000 genomes]
rs467735	0.84[ASN][1000 genomes]
rs469367	0.84[ASN][1000 genomes]
rs469674	0.85[ASN][1000 genomes]
rs469758	0.84[ASN][1000 genomes]
rs469783	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	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
3	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs30334	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs30334	ERAP1	cis	Whole Blood	GTEx
rs30334	ERAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs30334	ERAP1	cis	lung	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96068400-96138200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr5:96097400-96138400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr5:96098000-96137600	Strong transcription	Fetal Thymus	thymus
4	chr5:96107800-96138200	Strong transcription	GM12878-XiMat	blood
5	chr5:96115200-96141200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:96115400-96142000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:96116200-96141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:96119000-96142000	Weak transcription	A549	lung
9	chr5:96126800-96142800	Weak transcription	Brain Germinal Matrix	brain
10	chr5:96127000-96140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:96127000-96142600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:96127000-96142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:96127200-96139600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:96127200-96139800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:96127400-96142600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:96127400-96142600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:96127400-96142600	Weak transcription	NH-A	brain
18	chr5:96127600-96141600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:96127600-96142800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:96131400-96138400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr5:96131400-96138400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:96132200-96141400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:96132200-96142800	Weak transcription	HSMM	muscle
24	chr5:96132600-96138400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:96132600-96139000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:96132600-96142000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:96132600-96142600	Weak transcription	Fetal Brain Female	brain
28	chr5:96132800-96141800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:96132800-96142600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:96133000-96138400	Weak transcription	Esophagus	oesophagus
31	chr5:96133000-96138600	Weak transcription	Right Ventricle	heart
32	chr5:96133000-96139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:96133000-96139200	Weak transcription	NHLF	lung
34	chr5:96133000-96140200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:96133000-96141200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:96133000-96141200	Weak transcription	K562	blood
37	chr5:96133000-96141400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:96133000-96141400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:96133000-96142000	Weak transcription	Hela-S3	cervix
40	chr5:96133000-96142200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:96133000-96142200	Weak transcription	Fetal Kidney	kidney
42	chr5:96133000-96142600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:96133000-96142600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:96133000-96142800	Weak transcription	Fetal Brain Male	brain
45	chr5:96133000-96142800	Weak transcription	HSMMtube	muscle
46	chr5:96133200-96141200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:96133200-96141200	Weak transcription	HepG2	liver
48	chr5:96133200-96142000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:96133200-96142000	Weak transcription	NHDF-Ad	bronchial
50	chr5:96133200-96142600	Weak transcription	HUVEC	blood vessel

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