Variant report

Variant	rs3130001
Chromosome Location	chr6:33335448-33335449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr6:33335202-33335615	K562	blood:	n/a	n/a
2	EP300	chr6:33335376-33335576	K562	blood:	n/a	n/a
3	ZNF384	chr6:33335172-33335862	K562	blood:	n/a	n/a
4	JUN	chr6:33334817-33335508	K562	blood:	n/a	chr6:33335144-33335157
5	EP300	chr6:33335247-33335586	GM12878	blood:	n/a	n/a
6	RPC155	chr6:33335227-33335759	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33335436-33335486	HEEpiC	esophagus:	n/a
2	chr6:33335436-33335486	Jurkat	blood:	n/a
3	chr6:33335436-33335486	HUVEC	blood vessel:	n/a
4	chr6:33335436-33335486	HCPEpiC	choroid plexus:	n/a
5	chr6:33335436-33335486	NH-A	brain:	n/a
6	chr6:33335436-33335486	AG10803	skin:	n/a
7	chr6:33335436-33335486	ECC-1	luminal epithelium:	n/a
8	chr6:33335436-33335486	AG09319	gingival:	n/a
9	chr6:33335436-33335486	A549	lung:	n/a
10	chr6:33335436-33335486	HRCEpiC	kidney:	n/a
11	chr6:33335436-33335486	U87	brain:	n/a
12	chr6:33335436-33335486	ovcar-3	ovarian:	n/a
13	chr6:33335436-33335486	Hela-S3	cervix:	n/a
14	chr6:33335436-33335486	AG09309	skin:	n/a
15	chr6:33335436-33335486	PrEC	prostate:	n/a
16	chr6:33335436-33335486	IMR90	lung:	fetal
17	chr6:33335436-33335486	AG04450	lung:	fetal
18	chr6:33335436-33335486	HNPCEpiC	eye:	n/a
19	chr6:33335436-33335486	SK-N-SH	brain:	n/a
20	chr6:33335436-33335486	GM12878	blood:	n/a
21	chr6:33335436-33335486	AG04449	skin:	fetal
22	chr6:33335436-33335486	MCF10A-Er-Src	breast:	n/a
23	chr6:33335436-33335486	BJ	skin:	n/a
24	chr6:33335436-33335486	HepG2	liver:	n/a
25	chr6:33335436-33335486	Caco-2	colon:	n/a
26	chr6:33335436-33335486	HRPEpiC	eye:	n/a
27	chr6:33335436-33335486	HCF	heart:	n/a
28	chr6:33335436-33335486	SAEC	small airway:	n/a
29	chr6:33335436-33335486	HAEpiC	amniotic membrane:	n/a
30	chr6:33335436-33335486	CMK	blood:	n/a
31	chr6:33335436-33335486	Hepatocyte	liver:	n/a
32	chr6:33335436-33335486	NT2-D1	testis:	n/a
33	chr6:33335436-33335486	ProgFib	skin:	n/a
34	chr6:33335436-33335486	NHDF-neo	bronchial:	n/a
35	chr6:33335436-33335486	SK-N-MC	brain:	n/a
36	chr6:33335436-33335486	PANC-1	pancreas:	n/a
37	chr6:33335436-33335486	AoSMC	blood vessel:	n/a
38	chr6:33335436-33335486	NHBE	bronchial:	n/a
39	chr6:33335436-33335486	HRE	kidney:	n/a
40	chr6:33335436-33335486	SK-N-SH_RA	brain:	n/a
41	chr6:33335436-33335486	RPTEC	kidney:	n/a
42	chr6:33335436-33335486	HCM	heart:	n/a
43	chr6:33335436-33335486	K562	blood:	n/a
44	chr6:33335436-33335486	PFSK-1	brain:	n/a
45	chr6:33335436-33335486	H1-hESC	embryonic stem cell:	embryo
46	chr6:33335436-33335486	GM19239	blood:	n/a
47	chr6:33335436-33335486	HL-60	blood:	n/a
48	chr6:33335436-33335486	BE2_C	brain:	n/a
49	chr6:33335436-33335486	GM12892	blood:	n/a
50	chr6:33335436-33335486	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33267122..33269021-chr6:33335374..33337142,2	K562	blood:
2	chr6:33243900..33246250-chr6:33334641..33337125,2	K562	blood:

No data

Variant related genes	Relation type
LYPLA2P1	TF binding region
LYPLA2P1	CpG island
ENSG00000235863	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs211449	0.85[ASN][1000 genomes]
rs211450	0.81[ASN][1000 genomes]
rs2743	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3117320	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3130002	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130007	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130015	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130274	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130275	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130276	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs376006	0.83[EUR][1000 genomes]
rs420714	0.84[EUR][1000 genomes]
rs456993	0.83[EUR][1000 genomes]
rs459927	0.82[EUR][1000 genomes]
rs461887	0.83[EUR][1000 genomes]
rs461964	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs465223	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs465474	0.83[EUR][1000 genomes]
rs465506	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs465877	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs467065	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9278025	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][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	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv970110	chr6:33331311-33342922	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3130001	TAPBP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33324600-33340200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:33332800-33340200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:33333000-33340200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:33333600-33340800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:33334800-33335800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:33335000-33335600	Enhancers	K562	blood

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