Variant report

Variant	rs34088950
Chromosome Location	chr1:223319136-223319137
allele	A/C
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:1)
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	chr1:223319102-223319152	NHBE	bronchial:	n/a
2	chr1:223319102-223319152	RPTEC	kidney:	n/a
3	chr1:223319102-223319152	PANC-1	pancreas:	n/a
4	chr1:223319102-223319152	HEK293	kidney:	embryo
5	chr1:223319102-223319152	MCF10A-Er-Src	breast:	n/a
6	chr1:223319102-223319152	GM12891	blood:	n/a
7	chr1:223319102-223319152	HAEpiC	amniotic membrane:	n/a
8	chr1:223319102-223319152	AoSMC	blood vessel:	n/a
9	chr1:223319102-223319152	NT2-D1	testis:	n/a
10	chr1:223319102-223319152	SK-N-SH	brain:	n/a
11	chr1:223319102-223319152	HUVEC	blood vessel:	n/a
12	chr1:223319102-223319152	BJ	skin:	n/a
13	chr1:223319102-223319152	NHDF-neo	bronchial:	n/a
14	chr1:223319102-223319152	PFSK-1	brain:	n/a
15	chr1:223319102-223319152	MCF-7	breast:	n/a
16	chr1:223319102-223319152	AG10803	skin:	n/a
17	chr1:223319102-223319152	NH-A	brain:	n/a
18	chr1:223319102-223319152	H1-hESC	embryonic stem cell:	embryo
19	chr1:223319102-223319152	SK-N-MC	brain:	n/a
20	chr1:223319102-223319152	A549	lung:	n/a
21	chr1:223319102-223319152	IMR90	lung:	fetal
22	chr1:223319102-223319152	HRPEpiC	eye:	n/a
23	chr1:223319102-223319152	LNCaP	prostate:	n/a
24	chr1:223319102-223319152	Caco-2	colon:	n/a
25	chr1:223319102-223319152	ECC-1	luminal epithelium:	n/a
26	chr1:223319102-223319152	Hepatocyte	liver:	n/a
27	chr1:223319102-223319152	HCF	heart:	n/a
28	chr1:223319102-223319152	GM06990	blood:	n/a
29	chr1:223319102-223319152	Hela-S3	cervix:	n/a
30	chr1:223319102-223319152	GM19239	blood:	n/a
31	chr1:223319102-223319152	HepG2	liver:	n/a
32	chr1:223319102-223319152	AG04450	lung:	fetal
33	chr1:223319102-223319152	GM12892	blood:	n/a
34	chr1:223319102-223319152	HCPEpiC	choroid plexus:	n/a
35	chr1:223319102-223319152	Jurkat	blood:	n/a
36	chr1:223319102-223319152	HCT-116	colon:	n/a
37	chr1:223319102-223319152	HRCEpiC	kidney:	n/a
38	chr1:223319102-223319152	HIPEpiC	eye:	n/a
39	chr1:223319102-223319152	T-47D	breast:	n/a
40	chr1:223319102-223319152	AG09319	gingival:	n/a
41	chr1:223319102-223319152	SKMC	muscle:	n/a
42	chr1:223319102-223319152	AG04449	skin:	fetal
43	chr1:223319102-223319152	HL-60	blood:	n/a
44	chr1:223319102-223319152	SK-N-SH_RA	brain:	n/a
45	chr1:223319102-223319152	GM12878	blood:	n/a
46	chr1:223319102-223319152	NB4	blood:	n/a
47	chr1:223319102-223319152	HNPCEpiC	eye:	n/a
48	chr1:223319102-223319152	HEEpiC	esophagus:	n/a
49	chr1:223319102-223319152	U87	brain:	n/a
50	chr1:223319102-223319152	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223318487..223320795-chr1:223328403..223334378,5	K562	blood:

No data

Variant related genes	Relation type
TLR5	CpG island

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11488549	1.00[ASN][1000 genomes]
rs1341985	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17163741	1.00[ASN][1000 genomes]
rs34970812	1.00[ASN][1000 genomes]
rs35705006	1.00[ASN][1000 genomes]
rs35802580	1.00[ASN][1000 genomes]
rs35953839	1.00[ASN][1000 genomes]
rs4393150	1.00[ASN][1000 genomes]
rs5744104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744144	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5744150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5744156	0.90[EUR][1000 genomes]
rs61838985	1.00[ASN][1000 genomes]
rs67833495	1.00[ASN][1000 genomes]
rs72743840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743869	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743871	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748469	0.86[EUR][1000 genomes]
rs72748471	0.86[EUR][1000 genomes]
rs72748472	0.86[EUR][1000 genomes]
rs72748475	0.86[EUR][1000 genomes]
rs72748482	0.90[EUR][1000 genomes]
rs73113934	1.00[ASN][1000 genomes]
rs73113935	1.00[ASN][1000 genomes]
rs73113941	1.00[ASN][1000 genomes]
rs73113948	1.00[ASN][1000 genomes]
rs988243	1.00[ASN][1000 genomes]
rs988244	1.00[ASN][1000 genomes]
rs988779	1.00[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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223317600-223326800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:223317800-223321400	Weak transcription	Gastric	stomach
3	chr1:223318000-223321400	Weak transcription	Thymus	Thymus
4	chr1:223318400-223322600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:223318600-223321400	Weak transcription	Fetal Muscle Leg	muscle

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