Variant report

Variant	rs1496398
Chromosome Location	chr5:167632050-167632051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167625904..167627787-chr5:167630198..167633051,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12108717	1.00[CHB][hapmap]
rs17069703	1.00[MKK][hapmap]
rs17731499	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs247989	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv600255	chr5:167622534-167651603	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv600256	chr5:167622914-167643545	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1496398	GSTM2P1	trans	lymphoblastoid	seeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167615800-167633800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:167615800-167646600	Weak transcription	Fetal Heart	heart
3	chr5:167619200-167646600	Weak transcription	NHDF-Ad	bronchial
4	chr5:167620800-167634200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:167620800-167636400	Weak transcription	HSMMtube	muscle
6	chr5:167621200-167636600	Weak transcription	Brain Anterior Caudate	brain
7	chr5:167621400-167636600	Weak transcription	Fetal Lung	lung
8	chr5:167621400-167657600	Weak transcription	Fetal Brain Female	brain
9	chr5:167621800-167646400	Weak transcription	Brain Germinal Matrix	brain
10	chr5:167622200-167636200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:167622200-167636400	Weak transcription	Fetal Brain Male	brain
12	chr5:167622600-167636600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:167622800-167634000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:167623000-167634200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:167624000-167636600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:167624600-167634400	Weak transcription	HMEC	breast
17	chr5:167624600-167646600	Weak transcription	Liver	Liver
18	chr5:167624800-167636800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:167625600-167633200	Strong transcription	Left Ventricle	heart
20	chr5:167625600-167633400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:167626400-167636600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:167627200-167636400	Weak transcription	Brain Angular Gyrus	brain
23	chr5:167628800-167636400	Weak transcription	HSMM	muscle
24	chr5:167629200-167634400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:167630000-167634000	Strong transcription	NHEK	skin
26	chr5:167630000-167635600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:167630200-167643000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:167630600-167634200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:167630600-167636400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:167630800-167636200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:167631000-167633400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:167631000-167634400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr5:167631200-167643400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:167631600-167634200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:167631600-167634600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:167631800-167632200	Strong transcription	NH-A	brain
37	chr5:167631800-167633200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:167631800-167634200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:167631800-167640800	Weak transcription	Right Ventricle	heart
40	chr5:167632000-167634000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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