Variant report

Variant	rs13065970
Chromosome Location	chr3:146214962-146214963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr3:146214350-146215039	K562	blood:	n/a	n/a
2	RCOR1	chr3:146214321-146215027	K562	blood:	n/a	n/a
3	GATA1	chr3:146214140-146214989	K562	blood:	n/a	chr3:146214646-146214655 chr3:146214648-146214658 chr3:146214637-146214654 chr3:146214641-146214662 chr3:146214648-146214655 chr3:146214590-146214600 chr3:146214646-146214656 chr3:146214834-146214845 chr3:146214648-146214655 chr3:146214645-146214657 chr3:146214648-146214655 chr3:146214643-146214659
4	TAL1	chr3:146214317-146214989	K562	blood:	n/a	chr3:146214637-146214655
5	NR2F2	chr3:146214296-146215156	K562	blood:	n/a	n/a
6	CEBPD	chr3:146214350-146214964	K562	blood:	n/a	n/a
7	MYC	chr3:146214460-146215003	K562	blood:	n/a	chr3:146214576-146214586
8	TBL1XR1	chr3:146214376-146214992	K562	blood:	n/a	n/a
9	CEBPD	chr3:146214410-146214970	K562	blood:	n/a	n/a
10	EP300	chr3:146213875-146214967	K562	blood:	n/a	n/a
11	TEAD4	chr3:146214277-146215037	K562	blood:	n/a	n/a
12	CCNT2	chr3:146214376-146215084	K562	blood:	n/a	chr3:146214637-146214657 chr3:146214578-146214587
13	JUND	chr3:146214272-146214966	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:146214926-146214976	SKMC	muscle:	n/a
2	chr3:146214926-146214976	NT2-D1	testis:	n/a
3	chr3:146214926-146214976	Caco-2	colon:	n/a
4	chr3:146214926-146214976	H1-hESC	embryonic stem cell:	embryo
5	chr3:146214926-146214976	HIPEpiC	eye:	n/a
6	chr3:146214926-146214976	NH-A	brain:	n/a
7	chr3:146214926-146214976	NB4	blood:	n/a
8	chr3:146214926-146214976	GM12892	blood:	n/a
9	chr3:146214926-146214976	SK-N-SH_RA	brain:	n/a
10	chr3:146214926-146214976	SK-N-SH	brain:	n/a
11	chr3:146214926-146214976	HepG2	liver:	n/a
12	chr3:146214926-146214976	Jurkat	blood:	n/a
13	chr3:146214926-146214976	Hela-S3	cervix:	n/a
14	chr3:146214926-146214976	BJ	skin:	n/a
15	chr3:146214926-146214976	K562	blood:	n/a
16	chr3:146214926-146214976	GM12878	blood:	n/a
17	chr3:146214926-146214976	SAEC	small airway:	n/a
18	chr3:146214926-146214976	U87	brain:	n/a
19	chr3:146214926-146214976	T-47D	breast:	n/a
20	chr3:146214926-146214976	HNPCEpiC	eye:	n/a
21	chr3:146214926-146214976	ProgFib	skin:	n/a
22	chr3:146214926-146214976	HEK293	kidney:	embryo
23	chr3:146214926-146214976	PANC-1	pancreas:	n/a
24	chr3:146214926-146214976	PFSK-1	brain:	n/a
25	chr3:146214926-146214976	MCF10A-Er-Src	breast:	n/a
26	chr3:146214926-146214976	HCF	heart:	n/a
27	chr3:146214926-146214976	HRE	kidney:	n/a
28	chr3:146214926-146214976	HEEpiC	esophagus:	n/a
29	chr3:146214926-146214976	AoSMC	blood vessel:	n/a
30	chr3:146214926-146214976	HCPEpiC	choroid plexus:	n/a
31	chr3:146214926-146214976	LNCaP	prostate:	n/a
32	chr3:146214926-146214976	NHBE	bronchial:	n/a
33	chr3:146214926-146214976	AG09309	skin:	n/a
34	chr3:146214926-146214976	HUVEC	blood vessel:	n/a
35	chr3:146214926-146214976	AG04450	lung:	fetal
36	chr3:146214926-146214976	NHDF-neo	bronchial:	n/a
37	chr3:146214926-146214976	ECC-1	luminal epithelium:	n/a
38	chr3:146214926-146214976	ovcar-3	ovarian:	n/a
39	chr3:146214926-146214976	RPTEC	kidney:	n/a
40	chr3:146214926-146214976	HRCEpiC	kidney:	n/a
41	chr3:146214926-146214976	HRPEpiC	eye:	n/a
42	chr3:146214926-146214976	A549	lung:	n/a
43	chr3:146214926-146214976	HMEC	breast:	n/a
44	chr3:146214926-146214976	CMK	blood:	n/a
45	chr3:146214926-146214976	HCT-116	colon:	n/a
46	chr3:146214926-146214976	Hepatocyte	liver:	n/a
47	chr3:146214926-146214976	MCF-7	breast:	n/a
48	chr3:146214926-146214976	GM19239	blood:	n/a
49	chr3:146214926-146214976	AG09319	gingival:	n/a
50	chr3:146214926-146214976	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:146213959..146215487-chr3:146223971..146226967,2	K562	blood:
2	chr3:146214293..146216886-chr3:146219168..146220915,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLSCR2	TF binding region
PLSCR2	CpG island

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1054736	0.87[ASN][1000 genomes]
rs11708619	0.81[ASN][1000 genomes]
rs11716510	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11916950	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35102814	0.83[ASN][1000 genomes]
rs35296568	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35783134	0.87[ASN][1000 genomes]
rs3732746	0.86[EUR][1000 genomes]
rs4681324	0.87[ASN][1000 genomes]
rs473794	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs474803	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs488053	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs491900	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs498201	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs500995	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs506974	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs512259	0.94[EUR][1000 genomes]
rs512845	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs514287	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs523849	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs524720	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs527708	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs533625	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs534092	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs536474	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs536619	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs536737	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs546430	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs557809	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs563385	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs568302	0.91[ASN][1000 genomes]
rs575834	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62274675	0.82[ASN][1000 genomes]
rs968634	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs968635	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877622	chr3:146131961-146219740	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3448053	chr3:146186791-146262066	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv3523751	chr3:146186838-146261806	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv3523753	chr3:146186838-146261806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv2496437	chr3:146186902-146262961	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv3416587	chr3:146191303-146222138	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146211400-146221200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:146213000-146215600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:146213600-146215000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:146213600-146215000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:146214200-146235400	Weak transcription	Right Atrium	heart
6	chr3:146214400-146215000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:146214400-146215000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:146214600-146215000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:146214600-146215000	Weak transcription	Fetal Thymus	thymus
10	chr3:146214600-146215400	Enhancers	Primary hematopoietic stem cells	blood
11	chr3:146214800-146215000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr3:146214800-146215000	Enhancers	Dnd41	blood
13	chr3:146214800-146215000	Flanking Active TSS	K562	blood
14	chr3:146214800-146216000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:146214800-146216200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:146214800-146220600	Weak transcription	Placenta Amnion	Placenta Amnion

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