Variant report

Variant	rs73570807
Chromosome Location	chr20:1538366-1538367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:1538353-1538403	Jurkat	blood:	n/a
2	chr20:1538366-1538416	IMR90	lung:	fetal
3	chr20:1538353-1538403	Caco-2	colon:	n/a
4	chr20:1538353-1538403	AoSMC	blood vessel:	n/a
5	chr20:1538366-1538416	SK-N-SH_RA	brain:	n/a
6	chr20:1538353-1538403	HEEpiC	esophagus:	n/a
7	chr20:1538353-1538403	SKMC	muscle:	n/a
8	chr20:1538366-1538416	SK-N-MC	brain:	n/a
9	chr20:1538366-1538416	GM06990	blood:	n/a
10	chr20:1538366-1538416	Caco-2	colon:	n/a
11	chr20:1538353-1538403	ECC-1	luminal epithelium:	n/a
12	chr20:1538366-1538416	A549	lung:	n/a
13	chr20:1538366-1538416	NHDF-neo	bronchial:	n/a
14	chr20:1538366-1538416	AG04450	lung:	fetal
15	chr20:1538353-1538403	H1-hESC	embryonic stem cell:	embryo
16	chr20:1538366-1538416	GM12878	blood:	n/a
17	chr20:1538366-1538416	SK-N-SH	brain:	n/a
18	chr20:1538353-1538403	HepG2	liver:	n/a
19	chr20:1538366-1538416	AoSMC	blood vessel:	n/a
20	chr20:1538353-1538403	K562	blood:	n/a
21	chr20:1538353-1538403	A549	lung:	n/a
22	chr20:1538353-1538403	AG04449	skin:	fetal
23	chr20:1538353-1538403	ovcar-3	ovarian:	n/a
24	chr20:1538353-1538403	HPAEpiC	pulmonary alveolar:	n/a
25	chr20:1538353-1538403	SK-N-MC	brain:	n/a
26	chr20:1538353-1538403	NH-A	brain:	n/a
27	chr20:1538353-1538403	NHBE	bronchial:	n/a
28	chr20:1538366-1538416	HRCEpiC	kidney:	n/a
29	chr20:1538366-1538416	HCF	heart:	n/a
30	chr20:1538353-1538403	IMR90	lung:	fetal
31	chr20:1538366-1538416	PFSK-1	brain:	n/a
32	chr20:1538366-1538416	NT2-D1	testis:	n/a
33	chr20:1538353-1538403	Hepatocyte	liver:	n/a
34	chr20:1538353-1538403	ProgFib	skin:	n/a
35	chr20:1538353-1538403	MCF10A-Er-Src	breast:	n/a
36	chr20:1538366-1538416	BJ	skin:	n/a
37	chr20:1538353-1538403	PFSK-1	brain:	n/a
38	chr20:1538366-1538416	CMK	blood:	n/a
39	chr20:1538353-1538403	PrEC	prostate:	n/a
40	chr20:1538353-1538403	AG04450	lung:	fetal
41	chr20:1538366-1538416	HCM	heart:	n/a
42	chr20:1538366-1538416	Hepatocyte	liver:	n/a
43	chr20:1538366-1538416	HEEpiC	esophagus:	n/a
44	chr20:1538353-1538403	NT2-D1	testis:	n/a
45	chr20:1538366-1538416	HIPEpiC	eye:	n/a
46	chr20:1538353-1538403	BE2_C	brain:	n/a
47	chr20:1538366-1538416	SKMC	muscle:	n/a
48	chr20:1538353-1538403	HAEpiC	amniotic membrane:	n/a
49	chr20:1538353-1538403	SK-N-SH	brain:	n/a
50	chr20:1538353-1538403	NB4	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000242324	CpG island
SIRPD	CpG island

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11905059	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11906723	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907473	1.00[AMR][1000 genomes]
rs11907712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11907998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11908171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11908182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56754323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57346343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57420503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58097778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58116184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58308789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58367945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58517500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59506879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60385016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60811618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61002307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61215418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61511268	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61733947	1.00[AMR][1000 genomes]
rs73569103	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569105	1.00[AMR][1000 genomes]
rs73569106	1.00[AMR][1000 genomes]
rs73569112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569127	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569150	1.00[AMR][1000 genomes]
rs73569154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569198	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73570844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2758509	chr20:1476781-1679256	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv2758777	chr20:1476781-1679256	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv428374	chr20:1476781-1679256	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv912596	chr20:1486637-1877150	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1057036	chr20:1493425-1869281	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv912597	chr20:1500506-1877150	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv510779	chr20:1509330-1613962	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv833894	chr20:1519433-1753366	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv1063015	chr20:1531131-1674430	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv531473	chr20:1532476-1864506	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv9775	chr20:1534985-1563660	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1532800-1545400	Weak transcription	Spleen	Spleen
2	chr20:1535800-1539200	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr20:1536400-1538400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
4	chr20:1537000-1541200	Weak transcription	Primary T cells from cord blood	blood
5	chr20:1537000-1551600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr20:1537400-1542800	Strong transcription	Monocytes-CD14+_RO01746	blood

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