Variant report

Variant	rs13033917
Chromosome Location	chr2:46706015-46706016
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:3)
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	chr2:46705989-46706039	A549	lung:	n/a
2	chr2:46705989-46706039	ECC-1	luminal epithelium:	n/a
3	chr2:46705989-46706039	BJ	skin:	n/a
4	chr2:46705989-46706039	Hepatocyte	liver:	n/a
5	chr2:46705989-46706039	GM19239	blood:	n/a
6	chr2:46705989-46706039	HL-60	blood:	n/a
7	chr2:46705989-46706039	AG09309	skin:	n/a
8	chr2:46705989-46706039	H1-hESC	embryonic stem cell:	embryo
9	chr2:46705989-46706039	SK-N-SH_RA	brain:	n/a
10	chr2:46705989-46706039	K562	blood:	n/a
11	chr2:46705989-46706039	SKMC	muscle:	n/a
12	chr2:46705989-46706039	AoSMC	blood vessel:	n/a
13	chr2:46705989-46706039	RPTEC	kidney:	n/a
14	chr2:46705989-46706039	ProgFib	skin:	n/a
15	chr2:46705989-46706039	GM12878	blood:	n/a
16	chr2:46705989-46706039	HRPEpiC	eye:	n/a
17	chr2:46705989-46706039	Jurkat	blood:	n/a
18	chr2:46705989-46706039	AG04450	lung:	fetal
19	chr2:46705989-46706039	PANC-1	pancreas:	n/a
20	chr2:46705989-46706039	PrEC	prostate:	n/a
21	chr2:46705989-46706039	GM12891	blood:	n/a
22	chr2:46705989-46706039	Hela-S3	cervix:	n/a
23	chr2:46705989-46706039	NHDF-neo	bronchial:	n/a
24	chr2:46705989-46706039	HIPEpiC	eye:	n/a
25	chr2:46705989-46706039	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:46705989-46706039	SK-N-SH	brain:	n/a
27	chr2:46705989-46706039	U87	brain:	n/a
28	chr2:46705989-46706039	Caco-2	colon:	n/a
29	chr2:46705989-46706039	HCF	heart:	n/a
30	chr2:46705989-46706039	SAEC	small airway:	n/a
31	chr2:46705989-46706039	ovcar-3	ovarian:	n/a
32	chr2:46705989-46706039	NH-A	brain:	n/a
33	chr2:46705989-46706039	NT2-D1	testis:	n/a
34	chr2:46705989-46706039	MCF10A-Er-Src	breast:	n/a
35	chr2:46705989-46706039	NB4	blood:	n/a
36	chr2:46705989-46706039	HEK293	kidney:	embryo
37	chr2:46705989-46706039	GM06990	blood:	n/a
38	chr2:46705989-46706039	T-47D	breast:	n/a
39	chr2:46705989-46706039	PFSK-1	brain:	n/a
40	chr2:46705989-46706039	SK-N-MC	brain:	n/a
41	chr2:46705989-46706039	NHBE	bronchial:	n/a
42	chr2:46705989-46706039	HUVEC	blood vessel:	n/a
43	chr2:46705989-46706039	HRCEpiC	kidney:	n/a
44	chr2:46705989-46706039	BE2_C	brain:	n/a
45	chr2:46705989-46706039	HNPCEpiC	eye:	n/a
46	chr2:46705989-46706039	HRE	kidney:	n/a
47	chr2:46705989-46706039	HCM	heart:	n/a
48	chr2:46705989-46706039	AG10803	skin:	n/a
49	chr2:46705989-46706039	HMEC	breast:	n/a
50	chr2:46705989-46706039	AG09319	gingival:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46656214..46657827-chr2:46704173..46707018,3	K562	blood:
2	chr2:46705265..46709008-chr2:46724758..46728950,5	K562	blood:
3	chr2:46704470..46707025-chr2:46769256..46770963,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM247	CpG island
ENSG00000253515	Chromatin interaction
ENSG00000187600	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000250565	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11125077	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12473626	0.92[CEU][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12619420	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13009087	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13017856	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13018019	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13018477	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13025174	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13025967	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13032473	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530625	0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs1530627	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs1530628	0.84[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes]
rs1542271	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1597041	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1823561	0.81[ASN][1000 genomes]
rs1868080	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1868096	0.89[EUR][1000 genomes]
rs2053765	0.90[EUR][1000 genomes]
rs2084345	0.91[EUR][1000 genomes]
rs2121697	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2121700	0.88[CEU][hapmap];0.83[TSI][hapmap]
rs2197698	0.90[EUR][1000 genomes]
rs2276555	0.92[CEU][hapmap];0.87[MEX][hapmap]
rs2346178	0.82[CHB][hapmap]
rs34186951	0.80[EUR][1000 genomes]
rs3814047	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3814048	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3863000	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4366955	0.90[EUR][1000 genomes]
rs4396767	0.83[CEU][hapmap]
rs4456747	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4952827	0.82[CHB][hapmap]
rs4953377	0.85[EUR][1000 genomes]
rs4953381	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4953384	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4953385	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4953389	0.92[CEU][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs6544894	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6715279	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6728611	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6728847	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6737959	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7556828	0.80[CEU][hapmap];0.95[CHB][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7557998	0.84[CEU][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.83[ASN][1000 genomes]
rs7559484	0.92[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs7562332	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7565770	0.84[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7565850	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7571742	0.92[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs7587138	0.91[CHB][hapmap];0.83[MEX][hapmap]
rs7588586	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7588938	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7598507	0.92[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes]
rs7598584	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[EUR][1000 genomes]
rs7598712	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv519216	chr2:46683683-46723219	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv581746	chr2:46699145-46719922	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13033917	ATP6V1E2	cis	Muscle Skeletal	GTEx
rs13033917	CRIPT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46689200-46714800	Weak transcription	Right Atrium	heart
2	chr2:46700200-46714800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:46705000-46707400	Weak transcription	Placenta	Placenta
4	chr2:46705000-46707600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:46705000-46716600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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