Variant report

Variant	rs61927088
Chromosome Location	chr12:66579676-66579677
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:2)
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	chr12:66579675-66579725	HRPEpiC	eye:	n/a
2	chr12:66579675-66579725	BJ	skin:	n/a
3	chr12:66579675-66579725	ECC-1	luminal epithelium:	n/a
4	chr12:66579675-66579725	AG09319	gingival:	n/a
5	chr12:66579675-66579725	U87	brain:	n/a
6	chr12:66579675-66579725	PrEC	prostate:	n/a
7	chr12:66579675-66579725	LNCaP	prostate:	n/a
8	chr12:66579675-66579725	HCPEpiC	choroid plexus:	n/a
9	chr12:66579675-66579725	PANC-1	pancreas:	n/a
10	chr12:66579675-66579725	AG09309	skin:	n/a
11	chr12:66579675-66579725	HUVEC	blood vessel:	n/a
12	chr12:66579675-66579725	MCF10A-Er-Src	breast:	n/a
13	chr12:66579675-66579725	GM12891	blood:	n/a
14	chr12:66579675-66579725	AG04450	lung:	fetal
15	chr12:66579675-66579725	AoSMC	blood vessel:	n/a
16	chr12:66579675-66579725	Hepatocyte	liver:	n/a
17	chr12:66579675-66579725	Jurkat	blood:	n/a
18	chr12:66579675-66579725	NT2-D1	testis:	n/a
19	chr12:66579675-66579725	NHBE	bronchial:	n/a
20	chr12:66579675-66579725	HEEpiC	esophagus:	n/a
21	chr12:66579675-66579725	IMR90	lung:	fetal
22	chr12:66579675-66579725	Hela-S3	cervix:	n/a
23	chr12:66579675-66579725	Caco-2	colon:	n/a
24	chr12:66579675-66579725	PFSK-1	brain:	n/a
25	chr12:66579675-66579725	NB4	blood:	n/a
26	chr12:66579675-66579725	BE2_C	brain:	n/a
27	chr12:66579675-66579725	HCT-116	colon:	n/a
28	chr12:66579675-66579725	T-47D	breast:	n/a
29	chr12:66579675-66579725	SK-N-SH_RA	brain:	n/a
30	chr12:66579675-66579725	MCF-7	breast:	n/a
31	chr12:66579675-66579725	CMK	blood:	n/a
32	chr12:66579675-66579725	HEK293	kidney:	embryo
33	chr12:66579675-66579725	HAEpiC	amniotic membrane:	n/a
34	chr12:66579675-66579725	HRCEpiC	kidney:	n/a
35	chr12:66579675-66579725	HNPCEpiC	eye:	n/a
36	chr12:66579675-66579725	H1-hESC	embryonic stem cell:	embryo
37	chr12:66579675-66579725	AG10803	skin:	n/a
38	chr12:66579675-66579725	HCM	heart:	n/a
39	chr12:66579675-66579725	GM19239	blood:	n/a
40	chr12:66579675-66579725	GM06990	blood:	n/a
41	chr12:66579675-66579725	A549	lung:	n/a
42	chr12:66579675-66579725	HIPEpiC	eye:	n/a
43	chr12:66579675-66579725	RPTEC	kidney:	n/a
44	chr12:66579675-66579725	SAEC	small airway:	n/a
45	chr12:66579675-66579725	SK-N-SH	brain:	n/a
46	chr12:66579675-66579725	ovcar-3	ovarian:	n/a
47	chr12:66579675-66579725	HRE	kidney:	n/a
48	chr12:66579675-66579725	HCF	heart:	n/a
49	chr12:66579675-66579725	SK-N-MC	brain:	n/a
50	chr12:66579675-66579725	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66578489..66581069-chr12:66583580..66586870,3	K562	blood:
2	chr12:66578488..66580000-chr12:66585242..66587314,2	MCF-7	breast:

No data

Variant related genes	Relation type
IRAK3	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10506480	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11465955	0.89[EUR][1000 genomes]
rs11465970	0.88[EUR][1000 genomes]
rs1179917	0.89[EUR][1000 genomes]
rs17767286	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17767298	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1821777	0.89[EUR][1000 genomes]
rs1882200	0.88[EUR][1000 genomes]
rs2289134	0.88[EUR][1000 genomes]
rs2293657	0.89[EUR][1000 genomes]
rs3782347	0.81[EUR][1000 genomes]
rs4762087	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4762088	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55715236	0.88[EUR][1000 genomes]
rs56156535	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56365678	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61927090	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7302556	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7315220	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a
6	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61927088	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66579600-66582400	Enhancers	Primary monocytes fromperipheralblood	blood

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