Variant report

Variant	rs1230363
Chromosome Location	chr5:96214507-96214508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96212491..96215464-chr5:96223042..96225542,2	K562	blood:
2	chr5:96142074..96143978-chr5:96212252..96215087,2	K562	blood:
3	chr5:96210744..96214555-chr5:96268958..96271606,4	MCF-7	breast:
4	chr5:96142074..96145143-chr5:96212194..96215127,3	K562	blood:
5	chr5:96207193..96215079-chr5:96269183..96273335,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113441	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000164307	Chromatin interaction
ENSG00000164308	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1230360	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1230361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1230364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1230365	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1235617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2549779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2549780	0.87[ASN][1000 genomes]
rs2617436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs968218	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs1230363	ERAP2	cis	lung	GTEx
rs1230363	ERAP2	cis	Heart Left Ventricle	GTEx
rs1230363	ERAP2	cis	Artery Tibial	GTEx
rs1230363	ERAP2	cis	Whole Blood	GTEx
rs1230363	ERAP2	cis	Adipose Subcutaneous	GTEx
rs1230363	ERAP2	cis	Thyroid	GTEx
rs1230363	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs1230363	ERAP2	cis	Nerve Tibial	GTEx
rs1230363	ERAP2	cis	Esophagus Muscularis	GTEx
rs1230363	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs1230363	ERAP2	cis	Muscle Skeletal	GTEx
rs1230363	ERAP2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96211800-96217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:96212200-96217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:96212200-96217000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:96212600-96215400	Weak transcription	Spleen	Spleen
5	chr5:96212600-96215600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:96212600-96217000	Weak transcription	Gastric	stomach
7	chr5:96212600-96217200	Weak transcription	Fetal Heart	heart
8	chr5:96212600-96232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:96212800-96215400	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:96212800-96217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:96212800-96220000	Weak transcription	Fetal Stomach	stomach
12	chr5:96213000-96215400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:96213000-96215400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:96213000-96215400	Weak transcription	Left Ventricle	heart
15	chr5:96213000-96216400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:96213000-96217000	Weak transcription	Lung	lung
17	chr5:96213000-96217200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:96213000-96239000	Weak transcription	Pancreas	Pancrea
19	chr5:96213200-96215200	Weak transcription	Stomach Mucosa	stomach
20	chr5:96213200-96215400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:96213200-96215600	Weak transcription	NH-A	brain
22	chr5:96213200-96215800	Weak transcription	Placenta	Placenta
23	chr5:96213200-96217000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:96213200-96217000	Weak transcription	Psoas Muscle	Psoas
25	chr5:96213200-96217200	Weak transcription	HSMM	muscle
26	chr5:96213200-96217400	Weak transcription	Right Ventricle	heart
27	chr5:96213200-96221600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:96213200-96225200	Weak transcription	Ovary	ovary
29	chr5:96213200-96229200	Weak transcription	Aorta	Aorta
30	chr5:96213400-96215000	Weak transcription	Fetal Thymus	thymus
31	chr5:96213400-96215200	Enhancers	Primary B cells from peripheral blood	blood
32	chr5:96213400-96215400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:96213400-96215400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:96213400-96215400	Weak transcription	A549	lung
35	chr5:96213400-96215600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:96213400-96215800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:96213400-96216000	Weak transcription	NHDF-Ad	bronchial
38	chr5:96213400-96216200	Weak transcription	K562	blood
39	chr5:96213400-96216200	Weak transcription	Osteobl	bone
40	chr5:96213400-96216800	Weak transcription	Colonic Mucosa	Colon
41	chr5:96213400-96216800	Weak transcription	Fetal Intestine Small	intestine
42	chr5:96213400-96217000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:96213400-96217000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:96213400-96217000	Weak transcription	Right Atrium	heart
45	chr5:96213400-96217200	Weak transcription	Colon Smooth Muscle	Colon
46	chr5:96213400-96217200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:96213400-96217600	Weak transcription	Brain Anterior Caudate	brain
48	chr5:96213400-96219000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:96213400-96221400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:96213400-96221600	Weak transcription	Brain Angular Gyrus	brain

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