Variant report

Variant	rs35811591
Chromosome Location	chr1:146515238-146515239
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:0)
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	chr1:146515238-146515288	ECC-1	luminal epithelium:	n/a
2	chr1:146515238-146515288	HMEC	breast:	n/a
3	chr1:146515238-146515288	HEK293	kidney:	embryo
4	chr1:146515238-146515288	AoSMC	blood vessel:	n/a
5	chr1:146515238-146515288	Hepatocyte	liver:	n/a
6	chr1:146515238-146515288	PFSK-1	brain:	n/a
7	chr1:146515238-146515288	GM19239	blood:	n/a
8	chr1:146515238-146515288	NH-A	brain:	n/a
9	chr1:146515238-146515288	IMR90	lung:	fetal
10	chr1:146515238-146515288	HepG2	liver:	n/a
11	chr1:146515238-146515288	Hela-S3	cervix:	n/a
12	chr1:146515238-146515288	SKMC	muscle:	n/a
13	chr1:146515238-146515288	U87	brain:	n/a
14	chr1:146515238-146515288	RPTEC	kidney:	n/a
15	chr1:146515238-146515288	HNPCEpiC	eye:	n/a
16	chr1:146515238-146515288	HRCEpiC	kidney:	n/a
17	chr1:146515238-146515288	HCF	heart:	n/a
18	chr1:146515238-146515288	SK-N-MC	brain:	n/a
19	chr1:146515238-146515288	HRPEpiC	eye:	n/a
20	chr1:146515238-146515288	AG04450	lung:	fetal
21	chr1:146515238-146515288	K562	blood:	n/a
22	chr1:146515238-146515288	NHBE	bronchial:	n/a
23	chr1:146515238-146515288	MCF-7	breast:	n/a
24	chr1:146515238-146515288	NB4	blood:	n/a
25	chr1:146515238-146515288	AG09319	gingival:	n/a
26	chr1:146515238-146515288	GM06990	blood:	n/a
27	chr1:146515238-146515288	BE2_C	brain:	n/a
28	chr1:146515238-146515288	LNCaP	prostate:	n/a
29	chr1:146515238-146515288	HL-60	blood:	n/a
30	chr1:146515238-146515288	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:146515238-146515288	BJ	skin:	n/a
32	chr1:146515238-146515288	Caco-2	colon:	n/a
33	chr1:146515238-146515288	HCPEpiC	choroid plexus:	n/a
34	chr1:146515238-146515288	HUVEC	blood vessel:	n/a
35	chr1:146515238-146515288	HCM	heart:	n/a
36	chr1:146515238-146515288	SK-N-SH	brain:	n/a
37	chr1:146515238-146515288	HAEpiC	amniotic membrane:	n/a
38	chr1:146515238-146515288	GM12892	blood:	n/a
39	chr1:146515238-146515288	HCT-116	colon:	n/a
40	chr1:146515238-146515288	MCF10A-Er-Src	breast:	n/a
41	chr1:146515238-146515288	T-47D	breast:	n/a
42	chr1:146515238-146515288	ovcar-3	ovarian:	n/a
43	chr1:146515238-146515288	HRE	kidney:	n/a
44	chr1:146515238-146515288	NT2-D1	testis:	n/a
45	chr1:146515238-146515288	SK-N-SH_RA	brain:	n/a
46	chr1:146515238-146515288	SAEC	small airway:	n/a
47	chr1:146515238-146515288	H1-hESC	embryonic stem cell:	embryo
48	chr1:146515238-146515288	Jurkat	blood:	n/a
49	chr1:146515238-146515288	AG04449	skin:	fetal
50	chr1:146515238-146515288	AG10803	skin:	n/a

No data

Variant related genes	Relation type
NBPF13P	CpG island

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12118734	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12122092	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122100	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124149	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12126527	1.00[ASN][1000 genomes]
rs12127461	1.00[ASN][1000 genomes]
rs12129419	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12129691	1.00[ASN][1000 genomes]
rs12141289	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142004	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142005	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144262	1.00[ASN][1000 genomes]
rs12723253	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12728300	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12733095	1.00[ASN][1000 genomes]
rs12737860	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12742539	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743228	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12745206	1.00[ASN][1000 genomes]
rs12752148	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34026136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35605851	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838895	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838896	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665411	1.00[ASN][1000 genomes]
rs6681167	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6683436	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689542	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71510558	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428224	chr1:145613243-146553918	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv2757753	chr1:145883119-146697542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
5	nsv872253	chr1:146494246-146548549	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv872254	chr1:146503841-146544721	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
8	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
9	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
11	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
12	nsv946298	chr1:146510432-146557539	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35811591	NBPF13P	cis	Whole Blood	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146513400-146517800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:146514200-146521400	Enhancers	Primary B cells from cord blood	blood
3	chr1:146514200-146521800	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:146514800-146517800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:146515000-146515800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:146515000-146518400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:146515000-146520400	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:146515200-146515400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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