Variant report

Variant	rs4285052
Chromosome Location	chr4:90028653-90028654
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:2)
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	chr4:90028618-90028668	BE2_C	brain:	n/a
2	chr4:90028618-90028668	CMK	blood:	n/a
3	chr4:90028618-90028668	H1-hESC	embryonic stem cell:	embryo
4	chr4:90028618-90028668	U87	brain:	n/a
5	chr4:90028618-90028668	AG10803	skin:	n/a
6	chr4:90028618-90028668	AG04449	skin:	fetal
7	chr4:90028618-90028668	HUVEC	blood vessel:	n/a
8	chr4:90028618-90028668	GM19239	blood:	n/a
9	chr4:90028618-90028668	NHDF-neo	bronchial:	n/a
10	chr4:90028618-90028668	HPAEpiC	pulmonary alveolar:	n/a
11	chr4:90028618-90028668	HEK293	kidney:	embryo
12	chr4:90028618-90028668	GM06990	blood:	n/a
13	chr4:90028618-90028668	SAEC	small airway:	n/a
14	chr4:90028618-90028668	HAEpiC	amniotic membrane:	n/a
15	chr4:90028618-90028668	AG04450	lung:	fetal
16	chr4:90028618-90028668	LNCaP	prostate:	n/a
17	chr4:90028618-90028668	PANC-1	pancreas:	n/a
18	chr4:90028618-90028668	RPTEC	kidney:	n/a
19	chr4:90028618-90028668	HL-60	blood:	n/a
20	chr4:90028618-90028668	GM12891	blood:	n/a
21	chr4:90028618-90028668	HCT-116	colon:	n/a
22	chr4:90028618-90028668	IMR90	lung:	fetal
23	chr4:90028618-90028668	PFSK-1	brain:	n/a
24	chr4:90028618-90028668	HMEC	breast:	n/a
25	chr4:90028618-90028668	SKMC	muscle:	n/a
26	chr4:90028618-90028668	AG09319	gingival:	n/a
27	chr4:90028618-90028668	HCPEpiC	choroid plexus:	n/a
28	chr4:90028618-90028668	NB4	blood:	n/a
29	chr4:90028618-90028668	BJ	skin:	n/a
30	chr4:90028618-90028668	T-47D	breast:	n/a
31	chr4:90028618-90028668	SK-N-SH	brain:	n/a
32	chr4:90028618-90028668	SK-N-MC	brain:	n/a
33	chr4:90028618-90028668	AG09309	skin:	n/a
34	chr4:90028618-90028668	NHBE	bronchial:	n/a
35	chr4:90028618-90028668	GM12878	blood:	n/a
36	chr4:90028618-90028668	HepG2	liver:	n/a
37	chr4:90028618-90028668	HRPEpiC	eye:	n/a
38	chr4:90028618-90028668	K562	blood:	n/a
39	chr4:90028618-90028668	NT2-D1	testis:	n/a
40	chr4:90028618-90028668	Hepatocyte	liver:	n/a
41	chr4:90028618-90028668	HEEpiC	esophagus:	n/a
42	chr4:90028618-90028668	HCF	heart:	n/a
43	chr4:90028618-90028668	Hela-S3	cervix:	n/a
44	chr4:90028618-90028668	MCF10A-Er-Src	breast:	n/a
45	chr4:90028618-90028668	A549	lung:	n/a
46	chr4:90028618-90028668	ProgFib	skin:	n/a
47	chr4:90028618-90028668	Jurkat	blood:	n/a
48	chr4:90028618-90028668	Caco-2	colon:	n/a
49	chr4:90028618-90028668	HCM	heart:	n/a
50	chr4:90028618-90028668	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90026718..90029366-chr4:90030525..90032807,2	MCF-7	breast:
2	chr4:89442768..89444878-chr4:90027120..90029163,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271359	CpG island
ENSG00000271359	Chromatin interaction
ENSG00000255072	Chromatin interaction
ENSG00000138640	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11097208	0.82[ASN][1000 genomes]
rs12640018	0.94[ASN][1000 genomes]
rs13138280	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13148188	0.82[ASN][1000 genomes]
rs1398940	0.86[ASN][1000 genomes]
rs1398944	0.83[ASN][1000 genomes]
rs17015027	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17015052	0.84[ASN][1000 genomes]
rs1708668	0.91[ASN][1000 genomes]
rs1708669	0.85[ASN][1000 genomes]
rs1708670	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1708681	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1795722	0.85[ASN][1000 genomes]
rs1795727	0.92[ASN][1000 genomes]
rs1795729	0.88[ASN][1000 genomes]
rs1795734	0.86[ASN][1000 genomes]
rs1795738	0.84[ASN][1000 genomes]
rs1849597	0.86[ASN][1000 genomes]
rs1921684	0.83[ASN][1000 genomes]
rs1961979	0.83[ASN][1000 genomes]
rs2018779	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2090031	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2464514	0.85[ASN][1000 genomes]
rs2670623	0.86[ASN][1000 genomes]
rs2704571	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28600923	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28628620	0.84[ASN][1000 genomes]
rs2869971	0.83[ASN][1000 genomes]
rs2869972	0.83[ASN][1000 genomes]
rs28712360	0.82[ASN][1000 genomes]
rs2904261	0.83[ASN][1000 genomes]
rs34845187	0.86[AMR][1000 genomes]
rs35441198	0.80[ASN][1000 genomes]
rs35624987	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4450885	0.82[ASN][1000 genomes]
rs4507326	0.80[ASN][1000 genomes]
rs4642211	0.86[AMR][1000 genomes]
rs4693981	0.81[ASN][1000 genomes]
rs59924504	0.83[ASN][1000 genomes]
rs60618725	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62306363	0.98[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs62306364	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62306390	0.98[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs62306391	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62306397	0.82[ASN][1000 genomes]
rs6819725	0.80[ASN][1000 genomes]
rs6821678	0.83[ASN][1000 genomes]
rs6827857	0.80[ASN][1000 genomes]
rs6834787	0.80[ASN][1000 genomes]
rs6844655	0.80[ASN][1000 genomes]
rs6852373	0.86[ASN][1000 genomes]
rs6853480	0.83[ASN][1000 genomes]
rs72877642	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7656238	0.83[ASN][1000 genomes]
rs7658455	0.83[ASN][1000 genomes]
rs7659904	0.82[ASN][1000 genomes]
rs7660314	0.82[ASN][1000 genomes]
rs7680864	0.82[ASN][1000 genomes]
rs7692291	0.83[ASN][1000 genomes]
rs9307060	0.80[ASN][1000 genomes]
rs9307061	0.82[ASN][1000 genomes]
rs9991237	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr4:90017200-90031600	Weak transcription	Right Atrium	heart
2	chr4:90021000-90029800	Weak transcription	Primary T cells from cord blood	blood
3	chr4:90024200-90031800	Weak transcription	Aorta	Aorta
4	chr4:90028400-90030800	Enhancers	Pancreas	Pancrea
5	chr4:90028400-90031200	Weak transcription	Ovary	ovary
6	chr4:90028600-90031200	Weak transcription	Right Ventricle	heart

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