Variant report

Variant	rs34168045
Chromosome Location	chr1:93296153-93296154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:93296109-93296159	GM06990	blood:	n/a
2	chr1:93296109-93296159	K562	blood:	n/a
3	chr1:93296109-93296159	Hepatocyte	liver:	n/a
4	chr1:93296109-93296159	HepG2	liver:	n/a
5	chr1:93296109-93296159	AG09309	skin:	n/a
6	chr1:93296109-93296159	ovcar-3	ovarian:	n/a
7	chr1:93296109-93296159	IMR90	lung:	fetal
8	chr1:93296109-93296159	CMK	blood:	n/a
9	chr1:93296109-93296159	HEK293	kidney:	embryo
10	chr1:93296109-93296159	LNCaP	prostate:	n/a
11	chr1:93296109-93296159	PANC-1	pancreas:	n/a
12	chr1:93296109-93296159	HNPCEpiC	eye:	n/a
13	chr1:93296109-93296159	AG04450	lung:	fetal
14	chr1:93296109-93296159	NH-A	brain:	n/a
15	chr1:93296109-93296159	HCF	heart:	n/a
16	chr1:93296109-93296159	GM19239	blood:	n/a
17	chr1:93296109-93296159	PFSK-1	brain:	n/a
18	chr1:93296109-93296159	MCF10A-Er-Src	breast:	n/a
19	chr1:93296109-93296159	ECC-1	luminal epithelium:	n/a
20	chr1:93296109-93296159	HEEpiC	esophagus:	n/a
21	chr1:93296109-93296159	PrEC	prostate:	n/a
22	chr1:93296109-93296159	SAEC	small airway:	n/a
23	chr1:93296109-93296159	NHBE	bronchial:	n/a
24	chr1:93296109-93296159	HRPEpiC	eye:	n/a
25	chr1:93296109-93296159	HAEpiC	amniotic membrane:	n/a
26	chr1:93296109-93296159	GM12878	blood:	n/a
27	chr1:93296109-93296159	Caco-2	colon:	n/a
28	chr1:93296109-93296159	BE2_C	brain:	n/a
29	chr1:93296109-93296159	AG10803	skin:	n/a
30	chr1:93296109-93296159	ProgFib	skin:	n/a
31	chr1:93296109-93296159	HUVEC	blood vessel:	n/a
32	chr1:93296109-93296159	HL-60	blood:	n/a
33	chr1:93296109-93296159	Hela-S3	cervix:	n/a
34	chr1:93296109-93296159	HIPEpiC	eye:	n/a
35	chr1:93296109-93296159	NT2-D1	testis:	n/a
36	chr1:93296109-93296159	H1-hESC	embryonic stem cell:	embryo
37	chr1:93296109-93296159	A549	lung:	n/a
38	chr1:93296109-93296159	HMEC	breast:	n/a
39	chr1:93296109-93296159	Jurkat	blood:	n/a
40	chr1:93296109-93296159	GM12892	blood:	n/a
41	chr1:93296109-93296159	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:93296109-93296159	NHDF-neo	bronchial:	n/a
43	chr1:93296109-93296159	HRE	kidney:	n/a
44	chr1:93296109-93296159	AG09319	gingival:	n/a
45	chr1:93296109-93296159	HRCEpiC	kidney:	n/a
46	chr1:93296109-93296159	BJ	skin:	n/a
47	chr1:93296109-93296159	T-47D	breast:	n/a
48	chr1:93296109-93296159	NB4	blood:	n/a
49	chr1:93296109-93296159	SK-N-MC	brain:	n/a
50	chr1:93296109-93296159	AG04449	skin:	fetal

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93249360..93255989-chr1:93295958..93302033,8	K562	blood:
2	chr1:93256221..93258760-chr1:93295783..93299962,5	K562	blood:
3	chr1:92762794..92765730-chr1:93295925..93298205,3	K562	blood:
4	chr1:93296076..93299049-chr1:93541677..93546567,5	K562	blood:

No data

Variant related genes	Relation type
RPL5	CpG island
ENSG00000174842	Chromatin interaction
ENSG00000122484	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000067208	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10874745	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11164825	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11582791	0.87[EUR][1000 genomes]
rs11586570	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12062315	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12082659	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12726286	0.85[EUR][1000 genomes]
rs12728322	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12746956	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12750269	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1854797	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2893226	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34244251	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35031391	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35051335	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35183060	0.87[EUR][1000 genomes]
rs58270016	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6604026	0.85[EUR][1000 genomes]
rs66525381	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6657809	0.85[EUR][1000 genomes]
rs6687931	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71652510	0.84[EUR][1000 genomes]
rs7514280	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7521417	0.83[EUR][1000 genomes]
rs7554594	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv530047	chr1:93273425-93308213	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv508393	chr1:93290513-93344924	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34168045	FAM69A	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93289800-93297400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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