Variant report

Variant	rs2303211
Chromosome Location	chr5:96238939-96238940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96238214..96240997-chr5:96241734..96244561,2	K562	blood:
2	chr5:96237744..96240527-chr5:96270354..96272687,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113441	Chromatin interaction
ENSG00000247121	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10059209	1.00[MEX][hapmap]
rs1134681	0.90[AFR][1000 genomes]
rs1137729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657704	1.00[MEX][hapmap]
rs17087180	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17630580	1.00[MEX][hapmap]
rs2287902	1.00[MEX][hapmap]
rs27731	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs3797787	1.00[CEU][hapmap]
rs3797792	1.00[CEU][hapmap]
rs3806939	1.00[CEU][hapmap];0.85[AFR][1000 genomes]
rs3806941	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs3806942	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs3806943	0.87[AFR][1000 genomes]
rs3806944	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs3822679	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs3822687	1.00[CEU][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs4509047	0.88[AFR][1000 genomes]
rs6862437	0.90[AFR][1000 genomes]
rs6883674	0.90[AFR][1000 genomes]
rs6883859	0.90[AFR][1000 genomes]
rs7714122	1.00[ASW][hapmap];0.94[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7721014	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7728347	1.00[MEX][hapmap]
rs7728999	0.90[AFR][1000 genomes]
rs7729489	0.90[AFR][1000 genomes]
rs7733301	1.00[ASW][hapmap];0.94[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7734264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2303211	ERAP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96213000-96239000	Weak transcription	Pancreas	Pancrea
2	chr5:96213400-96243800	Weak transcription	HepG2	liver
3	chr5:96213400-96247000	Weak transcription	Fetal Lung	lung
4	chr5:96217600-96241600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:96217600-96250000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:96218000-96264600	Weak transcription	Right Ventricle	heart
7	chr5:96218600-96259600	Weak transcription	HMEC	breast
8	chr5:96221600-96269200	Weak transcription	Fetal Brain Male	brain
9	chr5:96221800-96242200	Strong transcription	Dnd41	blood
10	chr5:96222000-96268600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:96222400-96242600	Strong transcription	Fetal Thymus	thymus
12	chr5:96222400-96247200	Weak transcription	Psoas Muscle	Psoas
13	chr5:96222400-96258200	Weak transcription	Stomach Mucosa	stomach
14	chr5:96223200-96240400	Strong transcription	Liver	Liver
15	chr5:96223600-96240600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr5:96225200-96244600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:96225600-96245200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:96225600-96266400	Weak transcription	Gastric	stomach
19	chr5:96226200-96244000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:96229200-96245400	Weak transcription	HSMMtube	muscle
21	chr5:96229600-96239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:96229600-96245000	Weak transcription	NH-A	brain
23	chr5:96229600-96269600	Weak transcription	Aorta	Aorta
24	chr5:96229800-96241600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:96229800-96256800	Weak transcription	NHEK	skin
26	chr5:96229800-96256800	Weak transcription	Osteobl	bone
27	chr5:96229800-96257000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:96229800-96270000	Weak transcription	Esophagus	oesophagus
29	chr5:96231000-96239800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:96231800-96245000	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:96232600-96240400	Strong transcription	Adipose Nuclei	Adipose
32	chr5:96232600-96240800	Weak transcription	Fetal Heart	heart
33	chr5:96232600-96258400	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:96232800-96242000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr5:96233000-96255600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:96233000-96256200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr5:96233200-96239000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr5:96233200-96240200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:96233200-96240600	Strong transcription	Primary T cells from cord blood	blood
40	chr5:96233200-96240800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr5:96233200-96241800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr5:96233200-96242200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:96233200-96242600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:96233200-96244400	Weak transcription	HUVEC	blood vessel
45	chr5:96233600-96239600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr5:96233600-96240200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:96233600-96242600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:96233600-96246000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:96233600-96247600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:96233800-96242400	Strong transcription	Primary B cells from cord blood	blood

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