Variant report

Variant	rs34750
Chromosome Location	chr5:96142806-96142807
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:96142588..96144739-chr5:96517628..96519299,2	MCF-7	breast:
2	chr5:96121324..96124158-chr5:96141331..96143363,2	K562	blood:
3	chr5:96029641..96031366-chr5:96142667..96144230,2	MCF-7	breast:
4	chr5:96142046..96143805-chr5:96227568..96230564,2	MCF-7	breast:
5	chr5:96121088..96123332-chr5:96141994..96144285,2	MCF-7	breast:
6	chr5:96127204..96132361-chr5:96142290..96145057,7	MCF-7	breast:
7	chr5:96142348..96143873-chr5:96516638..96519268,2	K562	blood:
8	chr5:96142074..96145143-chr5:96212194..96215127,3	K562	blood:
9	chr5:96118629..96120777-chr5:96141002..96143083,2	K562	blood:
10	chr5:96142714..96143485-chr6:33267021..33267676,2	Hela-S3	cervix:
11	chr5:96140146..96144558-chr5:96269495..96273172,12	MCF-7	breast:
12	chr5:96118629..96120783-chr5:96140370..96143083,3	K562	blood:
13	chr5:96142546..96145890-chr5:96269908..96273049,5	K562	blood:
14	chr5:96141925..96145850-chr5:96265867..96272606,9	K562	blood:
15	chr5:96140726..96144602-chr5:96269258..96273227,6	MCF-7	breast:
16	chr5:96125291..96127024-chr5:96141559..96143883,2	K562	blood:
17	chr5:96076665..96080894-chr5:96142161..96145119,4	K562	blood:
18	chr5:96142551..96144780-chr5:96277248..96279292,2	MCF-7	breast:
19	chr5:96114800..96117147-chr5:96142659..96144390,2	MCF-7	breast:
20	chr5:96078034..96080894-chr5:96142161..96145119,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000113441	Chromatin interaction
ENSG00000164308	Chromatin interaction
ENSG00000153113	Chromatin interaction
ENSG00000164307	Chromatin interaction
ENSG00000248734	Chromatin interaction
ENSG00000227836	Chromatin interaction
ENSG00000264129	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000249180	Chromatin interaction
ENSG00000058729	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs149189	0.88[ASN][1000 genomes]
rs149431	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs149482	0.84[EUR][1000 genomes]
rs149544	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs151908	1.00[CEU][hapmap];0.80[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs151909	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs151910	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs151911	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs151940	0.87[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs151953	0.91[CEU][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs151954	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs151964	0.87[ASN][1000 genomes]
rs193482	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs246453	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs246454	0.85[ASN][1000 genomes]
rs246455	0.85[ASN][1000 genomes]
rs26489	0.87[ASN][1000 genomes]
rs26490	0.85[ASN][1000 genomes]
rs26491	0.90[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs26495	0.87[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs26496	0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs26497	0.88[ASN][1000 genomes]
rs26498	0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs26500	0.87[ASN][1000 genomes]
rs26510	0.86[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs26512	0.86[ASN][1000 genomes]
rs26653	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs26654	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs26655	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs27045	0.86[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs27434	0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs27529	0.86[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs27640	0.87[ASN][1000 genomes]
rs27710	0.86[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs28119	0.87[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs28129	1.00[CEU][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28333	0.87[ASN][1000 genomes]
rs28337	0.87[ASN][1000 genomes]
rs30185	0.87[ASN][1000 genomes]
rs30186	0.87[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs30187	0.86[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs30378	0.86[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs30379	0.86[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs30380	0.86[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs34751	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34752	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34753	1.00[CEU][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34755	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs34756	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34757	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34759	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34760	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34761	0.92[EUR][1000 genomes]
rs34762	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34764	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35134	1.00[CEU][hapmap];0.80[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40090	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs40091	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs40604	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs42443	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs467735	0.85[ASN][1000 genomes]
rs468130	1.00[CEU][hapmap];0.80[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs469674	0.85[ASN][1000 genomes]
rs469758	0.82[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs469783	0.82[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs695965	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34750	ERAP1	cis	Whole Blood	GTEx
rs34750	ERAP1	cis	lung	GTEx
rs34750	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96141200-96143000	Flanking Active TSS	NHEK	skin
2	chr5:96141400-96143000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr5:96141400-96143000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:96141800-96143200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr5:96142000-96143000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:96142000-96144200	Active TSS	NHDF-Ad	bronchial
7	chr5:96142200-96143000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:96142200-96143000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:96142200-96143000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr5:96142200-96143000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr5:96142200-96144200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:96142200-96144200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr5:96142200-96144200	Active TSS	K562	blood
14	chr5:96142200-96144600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:96142400-96143000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr5:96142400-96143000	Flanking Active TSS	NHLF	lung
17	chr5:96142400-96143400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr5:96142400-96144000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:96142400-96144200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr5:96142400-96144200	Active TSS	Primary T cells from cord blood	blood
21	chr5:96142400-96144200	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr5:96142400-96144200	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr5:96142400-96144200	Active TSS	Brain Anterior Caudate	brain
24	chr5:96142400-96144200	Active TSS	Fetal Intestine Small	intestine
25	chr5:96142400-96144200	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr5:96142400-96144200	Active TSS	GM12878-XiMat	blood
27	chr5:96142400-96144400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr5:96142400-96144400	Active TSS	Thymus	Thymus
29	chr5:96142400-96144600	Active TSS	Duodenum Mucosa	Duodenum
30	chr5:96142400-96144800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr5:96142600-96143000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:96142600-96143000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:96142600-96143000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr5:96142600-96143000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:96142600-96143000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:96142600-96143000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr5:96142600-96143000	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr5:96142600-96143000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr5:96142600-96143000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr5:96142600-96143000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:96142600-96143000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr5:96142600-96143000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:96142600-96143000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr5:96142600-96143000	Flanking Active TSS	Liver	Liver
45	chr5:96142600-96143000	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr5:96142600-96143000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr5:96142600-96143000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr5:96142600-96143000	Flanking Active TSS	Fetal Brain Female	brain
49	chr5:96142600-96143000	Enhancers	Fetal Heart	heart
50	chr5:96142600-96143000	Flanking Active TSS	Fetal Kidney	kidney

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