Variant report

Variant	rs34761
Chromosome Location	chr5:96153624-96153625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96153135..96156038-chr5:96157520..96159852,2	MCF-7	breast:
2	chr5:96153073..96155340-chr5:96156797..96159342,3	K562	blood:
3	chr5:96142635..96145205-chr5:96151658..96154069,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164307	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs149431	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs149482	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs149544	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs151908	0.90[CHB][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs151909	0.96[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs151910	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs151911	0.94[CHB][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs151953	0.90[CHB][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs151954	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs152280	0.86[YRI][hapmap]
rs193482	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs26653	0.91[EUR][1000 genomes]
rs26654	0.92[EUR][1000 genomes]
rs26655	0.92[EUR][1000 genomes]
rs27527	0.90[YRI][hapmap]
rs28129	0.90[CHB][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs34750	0.92[EUR][1000 genomes]
rs34751	0.93[EUR][1000 genomes]
rs34752	0.92[EUR][1000 genomes]
rs34753	0.90[CHB][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34755	0.85[CHB][hapmap]
rs34756	0.90[CHB][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34757	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34759	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34760	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs34762	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34764	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs35134	0.90[CHB][hapmap];0.99[EUR][1000 genomes]
rs40090	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs40091	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs40604	0.90[CHB][hapmap];0.90[YRI][hapmap]
rs42443	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs468130	0.90[CHB][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs695965	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
rs34761	ERAP1	cis	lung	GTEx
rs34761	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs34761	ERAP1	cis	Whole Blood	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96144600-96156600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:96150400-96159800	Weak transcription	Fetal Intestine Large	intestine
3	chr5:96151600-96154400	Flanking Active TSS	Dnd41	blood
4	chr5:96151800-96153800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:96151800-96154200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr5:96152200-96156600	Weak transcription	NHEK	skin
7	chr5:96152200-96158600	Weak transcription	Spleen	Spleen
8	chr5:96152400-96156600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:96152400-96156600	Weak transcription	HMEC	breast
10	chr5:96152400-96157000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:96152600-96156800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:96152600-96156800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:96152600-96156800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:96152600-96157000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:96152800-96154000	Enhancers	Brain Hippocampus Middle	brain
16	chr5:96152800-96154400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:96152800-96156600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:96152800-96156800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:96153000-96153800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:96153000-96154200	Enhancers	Primary hematopoietic stem cells	blood
21	chr5:96153000-96154200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:96153000-96155400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr5:96153000-96156600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:96153000-96156600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:96153000-96156600	Weak transcription	Adipose Nuclei	Adipose
26	chr5:96153000-96156600	Weak transcription	HSMM	muscle
27	chr5:96153000-96156800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:96153000-96157200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:96153000-96157200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:96153000-96159200	Weak transcription	Right Atrium	heart
31	chr5:96153200-96153800	Enhancers	Primary B cells from cord blood	blood
32	chr5:96153200-96153800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr5:96153200-96154200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:96153200-96154200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:96153200-96154400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr5:96153200-96154400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:96153200-96154600	Enhancers	Fetal Thymus	thymus
38	chr5:96153200-96155200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr5:96153200-96155800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr5:96153200-96155800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:96153200-96159200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:96153400-96154200	Enhancers	Pancreas	Pancrea
43	chr5:96153400-96154400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr5:96153400-96154400	Enhancers	Thymus	Thymus
45	chr5:96153600-96153800	Enhancers	GM12878-XiMat	blood
46	chr5:96153600-96154000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:96153600-96154200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:96153600-96154600	Enhancers	Primary T cells from cord blood	blood
49	chr5:96153600-96155800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:96153600-96156000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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