Variant report

Variant	rs7714122
Chromosome Location	chr5:96255017-96255018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96239497..96241968-chr5:96254714..96256341,2	K562	blood:
2	chr5:96254195..96257346-chr5:96259220..96261586,3	MCF-7	breast:
3	chr5:96254910..96258387-chr5:96259473..96261476,3	K562	blood:
4	chr5:96253236..96255336-chr5:96271138..96273178,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1057808	1.00[MEX][hapmap];0.81[TSI][hapmap]
rs11135481	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1134681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1137729	0.90[AFR][1000 genomes]
rs17087180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407899	0.84[AMR][1000 genomes]
rs17408150	0.84[AMR][1000 genomes]
rs17409040	0.89[AMR][1000 genomes]
rs17486181	1.00[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes]
rs17486481	0.84[AMR][1000 genomes]
rs17486509	0.84[AMR][1000 genomes]
rs17486915	0.89[AMR][1000 genomes]
rs17487596	0.89[AMR][1000 genomes]
rs17515806	1.00[ASN][1000 genomes]
rs17531213	1.00[MEX][hapmap];0.81[TSI][hapmap]
rs17531366	1.00[MEX][hapmap];0.81[TSI][hapmap]
rs17550815	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17550822	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17628359	0.84[AMR][1000 genomes]
rs17684739	1.00[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes]
rs2303211	1.00[ASW][hapmap];0.94[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs27731	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[ASN][1000 genomes]
rs3733904	1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3733905	0.87[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs3797787	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3797792	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3806936	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3806939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3806941	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3806942	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3806943	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3806944	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3822679	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs3822687	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4397149	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4509047	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs55769558	0.89[AMR][1000 genomes]
rs56009267	0.89[AMR][1000 genomes]
rs6862437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7721014	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733301	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734264	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv823147	chr5:96247723-96257836	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7714122	LNPEP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96218000-96264600	Weak transcription	Right Ventricle	heart
2	chr5:96218600-96259600	Weak transcription	HMEC	breast
3	chr5:96221600-96269200	Weak transcription	Fetal Brain Male	brain
4	chr5:96222000-96268600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:96222400-96258200	Weak transcription	Stomach Mucosa	stomach
6	chr5:96225600-96266400	Weak transcription	Gastric	stomach
7	chr5:96229600-96269600	Weak transcription	Aorta	Aorta
8	chr5:96229800-96256800	Weak transcription	NHEK	skin
9	chr5:96229800-96256800	Weak transcription	Osteobl	bone
10	chr5:96229800-96257000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:96229800-96270000	Weak transcription	Esophagus	oesophagus
12	chr5:96232600-96258400	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:96233000-96255600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:96233000-96256200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr5:96233800-96256000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr5:96234200-96255600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:96237400-96269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:96237800-96265000	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:96238400-96256800	Weak transcription	NHDF-Ad	bronchial
20	chr5:96239400-96256800	Weak transcription	HSMM	muscle
21	chr5:96239400-96257200	Weak transcription	NHLF	lung
22	chr5:96239800-96268000	Weak transcription	Colonic Mucosa	Colon
23	chr5:96240600-96256800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:96242000-96259800	Weak transcription	Fetal Stomach	stomach
25	chr5:96242200-96255600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:96242200-96256000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr5:96242200-96268000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:96243400-96257200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:96243600-96266400	Weak transcription	Brain Angular Gyrus	brain
30	chr5:96243800-96256000	Strong transcription	Fetal Thymus	thymus
31	chr5:96244200-96258600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:96245200-96256600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:96245400-96258200	Weak transcription	Small Intestine	intestine
34	chr5:96245400-96259600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:96245400-96259800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:96245600-96255800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:96245800-96256600	Weak transcription	HUVEC	blood vessel
38	chr5:96245800-96256800	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:96245800-96258600	Weak transcription	Ovary	ovary
40	chr5:96245800-96264600	Weak transcription	Left Ventricle	heart
41	chr5:96246000-96256800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:96246000-96258000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr5:96246000-96268200	Weak transcription	Fetal Intestine Small	intestine
44	chr5:96246000-96270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:96247400-96258200	Weak transcription	Fetal Lung	lung
46	chr5:96247400-96259600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:96248400-96256000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr5:96248400-96256200	Strong transcription	Dnd41	blood
49	chr5:96249000-96255800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:96249600-96267800	Weak transcription	Fetal Intestine Large	intestine

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