Variant report

Variant	rs34463696
Chromosome Location	chr17:46549036-46549037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46541136..46543467-chr17:46547633..46550633,3	K562	blood:
2	chr17:46514248..46517781-chr17:46547190..46550869,3	K562	blood:
3	chr17:46547456..46550556-chr17:46552123..46556741,6	K562	blood:
4	chr17:46543575..46545195-chr17:46547041..46549908,2	K562	blood:

Variant related genes	Relation type
ENSG00000206805	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1396869	0.80[ASN][1000 genomes]
rs16956501	0.83[ASN][1000 genomes]
rs16957085	0.85[ASN][1000 genomes]
rs16957299	0.90[ASN][1000 genomes]
rs2271264	0.87[ASN][1000 genomes]
rs3809744	0.87[ASN][1000 genomes]
rs55751709	0.86[ASN][1000 genomes]
rs55765969	0.85[ASN][1000 genomes]
rs56011283	0.85[ASN][1000 genomes]
rs56103412	0.94[ASN][1000 genomes]
rs56311919	0.85[ASN][1000 genomes]
rs56371910	0.87[ASN][1000 genomes]
rs72827869	0.83[ASN][1000 genomes]
rs72827873	0.87[ASN][1000 genomes]
rs72827897	0.95[ASN][1000 genomes]
rs9899997	0.94[ASN][1000 genomes]
rs9907565	0.93[ASN][1000 genomes]
rs9913716	1.00[ASN][1000 genomes]

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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34463696	SNX11	cis	brain	BrainEAC

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46542200-46549800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr17:46543800-46549200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:46546000-46550000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr17:46547400-46551600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:46547600-46550600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr17:46547600-46550800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr17:46547800-46549400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr17:46547800-46550600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr17:46547800-46550800	Enhancers	NHDF-Ad	bronchial
10	chr17:46547800-46551000	Enhancers	HMEC	breast
11	chr17:46548000-46549200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr17:46548200-46549600	Weak transcription	A549	lung
13	chr17:46548200-46550800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr17:46548200-46551000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:46548400-46550600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr17:46548400-46550600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr17:46548400-46550800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:46548600-46550600	Enhancers	K562	blood
19	chr17:46548600-46550600	Enhancers	NHLF	lung
20	chr17:46548600-46550800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr17:46548600-46550800	Enhancers	NHEK	skin
22	chr17:46548800-46549400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr17:46548800-46549800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:46548800-46550800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:46548800-46550800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:46549000-46549400	Enhancers	HSMM	muscle
27	chr17:46549000-46549800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:46549000-46550400	Enhancers	GM12878-XiMat	blood
29	chr17:46549000-46550600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:46549000-46550600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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