Variant report

Variant	rs57453502
Chromosome Location	chr2:46706186-46706187
allele	C/T
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	chr2:46706139-46706189	K562	blood:	n/a
2	chr2:46706139-46706189	HAEpiC	amniotic membrane:	n/a
3	chr2:46706139-46706189	MCF-7	breast:	n/a
4	chr2:46706139-46706189	NHDF-neo	bronchial:	n/a
5	chr2:46706139-46706189	NHBE	bronchial:	n/a
6	chr2:46706139-46706189	HCM	heart:	n/a
7	chr2:46706139-46706189	HCT-116	colon:	n/a
8	chr2:46706139-46706189	ProgFib	skin:	n/a
9	chr2:46706139-46706189	AG09309	skin:	n/a
10	chr2:46706139-46706189	SK-N-SH_RA	brain:	n/a
11	chr2:46706139-46706189	SAEC	small airway:	n/a
12	chr2:46706139-46706189	LNCaP	prostate:	n/a
13	chr2:46706139-46706189	ECC-1	luminal epithelium:	n/a
14	chr2:46706139-46706189	AG04449	skin:	fetal
15	chr2:46706139-46706189	RPTEC	kidney:	n/a
16	chr2:46706139-46706189	HepG2	liver:	n/a
17	chr2:46706139-46706189	U87	brain:	n/a
18	chr2:46706139-46706189	HEK293	kidney:	embryo
19	chr2:46706139-46706189	HRCEpiC	kidney:	n/a
20	chr2:46706139-46706189	HCPEpiC	choroid plexus:	n/a
21	chr2:46706139-46706189	HUVEC	blood vessel:	n/a
22	chr2:46706139-46706189	NH-A	brain:	n/a
23	chr2:46706139-46706189	BE2_C	brain:	n/a
24	chr2:46706139-46706189	HRE	kidney:	n/a
25	chr2:46706139-46706189	PFSK-1	brain:	n/a
26	chr2:46706139-46706189	PANC-1	pancreas:	n/a
27	chr2:46706139-46706189	MCF10A-Er-Src	breast:	n/a
28	chr2:46706139-46706189	AG09319	gingival:	n/a
29	chr2:46706139-46706189	BJ	skin:	n/a
30	chr2:46706139-46706189	NT2-D1	testis:	n/a
31	chr2:46706139-46706189	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:46706139-46706189	GM12892	blood:	n/a
33	chr2:46706139-46706189	AoSMC	blood vessel:	n/a
34	chr2:46706139-46706189	HEEpiC	esophagus:	n/a
35	chr2:46706139-46706189	HMEC	breast:	n/a
36	chr2:46706139-46706189	Hepatocyte	liver:	n/a
37	chr2:46706139-46706189	IMR90	lung:	fetal
38	chr2:46706139-46706189	CMK	blood:	n/a
39	chr2:46706139-46706189	Caco-2	colon:	n/a
40	chr2:46706139-46706189	AG10803	skin:	n/a
41	chr2:46706139-46706189	ovcar-3	ovarian:	n/a
42	chr2:46706139-46706189	SK-N-SH	brain:	n/a
43	chr2:46706139-46706189	T-47D	breast:	n/a
44	chr2:46706139-46706189	NB4	blood:	n/a
45	chr2:46706139-46706189	Jurkat	blood:	n/a
46	chr2:46706139-46706189	HNPCEpiC	eye:	n/a
47	chr2:46706139-46706189	HRPEpiC	eye:	n/a
48	chr2:46706139-46706189	GM12891	blood:	n/a
49	chr2:46706139-46706189	HCF	heart:	n/a
50	chr2:46706139-46706189	AG04450	lung:	fetal

(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: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs55680262	1.00[AFR][1000 genomes]
rs55768552	0.83[AFR][1000 genomes]
rs55770522	1.00[AFR][1000 genomes]
rs55775849	0.83[AFR][1000 genomes]
rs55846419	0.83[AFR][1000 genomes]
rs55857444	1.00[AFR][1000 genomes]
rs55858852	0.83[AFR][1000 genomes]
rs55909007	0.83[AFR][1000 genomes]
rs55936500	0.83[AFR][1000 genomes]
rs55939277	0.83[AFR][1000 genomes]
rs56194963	1.00[AFR][1000 genomes]
rs56352638	0.83[AFR][1000 genomes]
rs57134112	0.83[AFR][1000 genomes]
rs57134197	1.00[AFR][1000 genomes]
rs57326818	0.83[AFR][1000 genomes]
rs57596928	0.83[AFR][1000 genomes]
rs57823622	0.83[AFR][1000 genomes]
rs58143719	1.00[AFR][1000 genomes]
rs58202206	0.83[AFR][1000 genomes]
rs58267234	0.83[AFR][1000 genomes]
rs58395052	1.00[AFR][1000 genomes]
rs58639867	0.83[AFR][1000 genomes]
rs60086470	1.00[AFR][1000 genomes]
rs60100807	1.00[AFR][1000 genomes]
rs60337602	0.83[AFR][1000 genomes]
rs60358116	0.83[AFR][1000 genomes]
rs61599272	0.83[AFR][1000 genomes]
rs6756900	0.83[AFR][1000 genomes]
rs73926284	0.83[AFR][1000 genomes]
rs73926287	0.83[AFR][1000 genomes]
rs73926290	0.83[AFR][1000 genomes]
rs73926291	0.83[AFR][1000 genomes]
rs73926293	0.83[AFR][1000 genomes]
rs73927846	0.83[AFR][1000 genomes]
rs73927849	0.83[AFR][1000 genomes]
rs73927872	0.83[AFR][1000 genomes]
rs73929724	0.83[AFR][1000 genomes]
rs73929725	0.83[AFR][1000 genomes]
rs73929728	0.83[AFR][1000 genomes]
rs73929729	0.83[AFR][1000 genomes]
rs73929730	0.83[AFR][1000 genomes]
rs73929731	1.00[AFR][1000 genomes]
rs73929737	0.83[AFR][1000 genomes]
rs873532	0.83[AFR][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

No data

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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