Variant report

Variant	rs647031
Chromosome Location	chr5:96158756-96158757
allele	A/C
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:96142124..96146941-chr5:96154281..96159448,6	MCF-7	breast:
2	chr5:96158505..96161239-chr5:96162094..96164343,2	MCF-7	breast:
3	chr5:96153073..96155340-chr5:96156797..96159342,3	K562	blood:
4	chr5:96153135..96156038-chr5:96157520..96159852,2	MCF-7	breast:
5	chr5:96141844..96146815-chr5:96155332..96160391,6	MCF-7	breast:
6	chr5:96156045..96158784-chr5:96268963..96272721,3	MCF-7	breast:
7	chr5:96087844..96088393-chr5:96158500..96159039,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2260A17.2.1-1	chr5:96158640-96158820	NONHSAT102912

No data

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

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs149598	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs152469	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs249957	1.00[CEU][hapmap]
rs249959	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26520	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27530	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs27690	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs27765	1.00[YRI][hapmap]
rs27895	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs28046	0.90[EUR][1000 genomes]
rs34733	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34734	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34736	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs40089	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57298362	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57663955	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58587603	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59151681	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59832415	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60376893	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60792454	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61227121	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7708451	0.87[EUR][1000 genomes]
rs845029	0.81[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs647031	ERAP1	cis	Artery Tibial	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96150400-96159800	Weak transcription	Fetal Intestine Large	intestine
2	chr5:96153000-96159200	Weak transcription	Right Atrium	heart
3	chr5:96153200-96159200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:96153600-96158800	Weak transcription	Fetal Intestine Small	intestine
5	chr5:96153600-96159200	Weak transcription	Osteobl	bone
6	chr5:96154200-96158800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:96154400-96159400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:96154400-96160400	Enhancers	Dnd41	blood
9	chr5:96156200-96160400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr5:96156400-96159200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:96156600-96158800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:96156600-96159000	Enhancers	Primary T cells from cord blood	blood
13	chr5:96156600-96159800	Enhancers	NHEK	skin
14	chr5:96156600-96160800	Enhancers	HMEC	breast
15	chr5:96156800-96158800	Enhancers	Primary hematopoietic stem cells	blood
16	chr5:96156800-96158800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:96156800-96159000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:96156800-96159000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:96156800-96159200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr5:96156800-96159200	Enhancers	Thymus	Thymus
21	chr5:96156800-96160600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:96157000-96159000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr5:96157000-96159000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:96157000-96160200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:96157200-96159600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr5:96157400-96159000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:96157400-96159000	Weak transcription	HSMM	muscle
28	chr5:96157400-96159200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:96157400-96159200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:96157400-96159400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:96157400-96159600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:96157400-96159800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:96157400-96160400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:96157600-96158800	Weak transcription	NHLF	lung
35	chr5:96158000-96159200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:96158000-96159200	Weak transcription	HUVEC	blood vessel
37	chr5:96158200-96159000	Enhancers	Fetal Thymus	thymus
38	chr5:96158400-96160600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:96158600-96158800	Enhancers	Spleen	Spleen
40	chr5:96158600-96160600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:96158600-96160600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:96158600-96160600	Enhancers	Hela-S3	cervix
43	chr5:96158600-96166400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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