Variant report

Variant	rs1697914
Chromosome Location	chr5:112047719-112047720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112042876..112045177-chr5:112046298..112050901,7	K562	blood:
2	chr5:112040661..112045747-chr5:112046493..112054139,9	MCF-7	breast:
3	chr5:112041577..112049243-chr5:112069735..112074802,8	K562	blood:
4	chr5:112043010..112045071-chr5:112047390..112050784,5	K562	blood:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11953943	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11960216	0.97[EUR][1000 genomes]
rs1644239	0.82[EUR][1000 genomes]
rs1644241	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1644242	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1661032	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1661034	0.90[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1697916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134960	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs1734244	0.95[EUR][1000 genomes]
rs1734245	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs1734246	1.00[CEU][hapmap];0.95[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1734247	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1882619	1.00[GIH][hapmap];0.82[AMR][1000 genomes]
rs2229994	1.00[YRI][hapmap]
rs2431505	0.89[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2431507	0.90[CEU][hapmap];0.95[GIH][hapmap];0.82[MKK][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2431508	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2431509	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2431511	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2439590	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2439592	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2439593	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2439594	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2455294	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2455296	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2464802	0.86[EUR][1000 genomes]
rs2464808	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2464810	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2909784	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2909961	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2909962	0.90[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs73220022	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1697914	LIPG	trans	lymphoblastoid	seeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112043000-112048200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:112044200-112049400	Weak transcription	Esophagus	oesophagus
3	chr5:112044400-112049200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr5:112044400-112049800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:112044600-112048000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:112044800-112047800	Enhancers	Brain Angular Gyrus	brain
7	chr5:112044800-112049400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:112044800-112050200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr5:112044800-112052200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:112044800-112058000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:112044800-112058800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:112045000-112048000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr5:112045000-112048000	Enhancers	K562	blood
14	chr5:112045000-112049600	Enhancers	Psoas Muscle	Psoas
15	chr5:112045200-112048000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:112045200-112048200	Enhancers	Colon Smooth Muscle	Colon
17	chr5:112045200-112048200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr5:112045200-112049800	Weak transcription	A549	lung
19	chr5:112045200-112053200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:112045200-112054000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:112045400-112048000	Enhancers	Brain Hippocampus Middle	brain
22	chr5:112045400-112048600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:112045400-112050800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:112045400-112051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:112045400-112052600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:112045400-112053000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:112045400-112054400	Weak transcription	NHEK	skin
28	chr5:112045400-112062000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:112045600-112049000	Weak transcription	HSMM	muscle
30	chr5:112045600-112054000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:112045600-112054600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:112045600-112060200	Weak transcription	NHLF	lung
33	chr5:112045600-112061600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:112045600-112063600	Weak transcription	Ovary	ovary
35	chr5:112045800-112049000	Weak transcription	Liver	Liver
36	chr5:112045800-112054000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:112046000-112048400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr5:112046000-112049200	Enhancers	Brain Cingulate Gyrus	brain
39	chr5:112046000-112049600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr5:112046000-112050600	Weak transcription	Fetal Kidney	kidney
41	chr5:112046000-112054000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:112046000-112069200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:112046200-112048200	Weak transcription	Fetal Brain Male	brain
44	chr5:112046200-112048600	Weak transcription	Fetal Stomach	stomach
45	chr5:112046200-112050200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr5:112046400-112048000	Enhancers	Brain Anterior Caudate	brain
47	chr5:112046400-112048200	Enhancers	Fetal Brain Female	brain
48	chr5:112046400-112049400	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:112046400-112051800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:112046400-112053200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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