Variant report

Variant	rs3822683
Chromosome Location	chr5:96080883-96080884
allele	C/T
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	chr5:96079985-96081015	K562	blood:	n/a	n/a
2	KAP1	chr5:96080657-96082281	HEK293	kidney:	n/a	n/a
3	SETDB1	chr5:96080796-96082515	U2OS	brain:	n/a	n/a
4	ZNF263	chr5:96080625-96081049	HEK293-T-REx	kidney:	n/a	n/a
5	POLR2A	chr5:96080435-96081062	Hela-S3	cervix:	n/a	n/a
6	TCF7L2	chr5:96080782-96082258	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96076665..96080894-chr5:96142161..96145119,4	K562	blood:
2	chr5:96078034..96080894-chr5:96142161..96145119,2	K562	blood:

Variant related genes	Relation type
ENSG00000249180	TF binding region
ENSG00000164307	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs26491	0.87[CEU][hapmap]
rs26492	0.93[CHD][hapmap]
rs26507	0.81[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs27037	0.91[CHD][hapmap]
rs27038	0.91[CHD][hapmap]
rs27524	0.91[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.82[MKK][hapmap];0.89[ASN][1000 genomes]
rs28081	0.93[CHD][hapmap];0.81[ASN][1000 genomes]
rs57889668	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs3822683	ERAP1	cis	lung	GTEx
rs3822683	ERAP1	cis	Whole Blood	GTEx
rs3822683	CAST	cis	cerebellum	SCAN
rs3822683	LNPEP	cis	parietal	SCAN
rs3822683	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs3822683	FAM174A	cis	cerebellum	SCAN
rs3822683	ERAP2	cis	cerebellum	SCAN
rs3822683	ERAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs3822683	CAST	cis	parietal	SCAN
rs3822683	CTD-2260A17.3	cis	Skin Sun Exposed Lower leg	GTEx
rs3822683	ERAP2	cis	parietal	SCAN
rs3822683	ERAP1	cis	parietal	SCAN
rs3822683	ERAP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96057800-96098600	Weak transcription	Fetal Brain Male	brain
2	chr5:96062800-96081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:96063000-96126200	Weak transcription	Brain Germinal Matrix	brain
4	chr5:96064600-96092600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:96068200-96095400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr5:96068200-96100400	Strong transcription	Liver	Liver
7	chr5:96068400-96138200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:96068600-96130000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:96069400-96094000	Strong transcription	Fetal Muscle Leg	muscle
10	chr5:96069600-96094000	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:96070200-96083400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr5:96070200-96087800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:96070200-96116400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr5:96070800-96095400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr5:96071000-96112800	Strong transcription	Hela-S3	cervix
16	chr5:96071200-96085000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:96071200-96088000	Strong transcription	A549	lung
18	chr5:96071200-96094000	Strong transcription	HSMM	muscle
19	chr5:96071400-96113000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:96071400-96126600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:96071600-96103200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:96071800-96083400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:96071800-96084200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:96072400-96086400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:96072400-96088400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:96072600-96081400	Strong transcription	Pancreas	Pancrea
27	chr5:96072600-96115600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:96072800-96083600	Strong transcription	Brain Anterior Caudate	brain
29	chr5:96072800-96086400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:96072800-96087800	Strong transcription	NHLF	lung
31	chr5:96072800-96094600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr5:96072800-96095200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:96072800-96095200	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr5:96073200-96083200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:96073200-96086600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:96073400-96087600	Strong transcription	Ovary	ovary
37	chr5:96073400-96088000	Strong transcription	Fetal Lung	lung
38	chr5:96073400-96115600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:96073600-96081200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:96073600-96082200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr5:96073600-96082800	Strong transcription	Esophagus	oesophagus
42	chr5:96073600-96087200	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr5:96073800-96081000	Strong transcription	Fetal Stomach	stomach
44	chr5:96074200-96081200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:96075200-96083800	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr5:96075200-96120400	Weak transcription	Fetal Brain Female	brain
47	chr5:96075400-96086400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:96075800-96081600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr5:96075800-96094800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:96076000-96081000	Strong transcription	Aorta	Aorta

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