Variant report

Variant	rs45568631
Chromosome Location	chr1:47263713-47263714
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:0)
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	chr1:47263713-47263763	GM12892	blood:	n/a
2	chr1:47263713-47263763	AG04449	skin:	fetal
3	chr1:47263713-47263763	HEEpiC	esophagus:	n/a
4	chr1:47263713-47263763	HNPCEpiC	eye:	n/a
5	chr1:47263713-47263763	HUVEC	blood vessel:	n/a
6	chr1:47263713-47263763	NHBE	bronchial:	n/a
7	chr1:47263713-47263763	HEK293	kidney:	embryo
8	chr1:47263713-47263763	HCT-116	colon:	n/a
9	chr1:47263713-47263763	U87	brain:	n/a
10	chr1:47263713-47263763	HAEpiC	amniotic membrane:	n/a
11	chr1:47263713-47263763	NT2-D1	testis:	n/a
12	chr1:47263713-47263763	NH-A	brain:	n/a
13	chr1:47263713-47263763	SK-N-SH_RA	brain:	n/a
14	chr1:47263713-47263763	GM06990	blood:	n/a
15	chr1:47263713-47263763	HRPEpiC	eye:	n/a
16	chr1:47263713-47263763	PANC-1	pancreas:	n/a
17	chr1:47263713-47263763	HCF	heart:	n/a
18	chr1:47263713-47263763	HRCEpiC	kidney:	n/a
19	chr1:47263713-47263763	K562	blood:	n/a
20	chr1:47263713-47263763	T-47D	breast:	n/a
21	chr1:47263713-47263763	GM19239	blood:	n/a
22	chr1:47263713-47263763	A549	lung:	n/a
23	chr1:47263713-47263763	IMR90	lung:	fetal
24	chr1:47263713-47263763	Jurkat	blood:	n/a
25	chr1:47263713-47263763	PFSK-1	brain:	n/a
26	chr1:47263713-47263763	HPAEpiC	pulmonary alveolar:	n/a
27	chr1:47263713-47263763	BJ	skin:	n/a
28	chr1:47263713-47263763	HCM	heart:	n/a
29	chr1:47263713-47263763	AG10803	skin:	n/a
30	chr1:47263713-47263763	ovcar-3	ovarian:	n/a
31	chr1:47263713-47263763	HRE	kidney:	n/a
32	chr1:47263713-47263763	AoSMC	blood vessel:	n/a
33	chr1:47263713-47263763	AG09319	gingival:	n/a
34	chr1:47263713-47263763	AG04450	lung:	fetal
35	chr1:47263713-47263763	ProgFib	skin:	n/a
36	chr1:47263713-47263763	SKMC	muscle:	n/a
37	chr1:47263713-47263763	SAEC	small airway:	n/a
38	chr1:47263713-47263763	MCF-7	breast:	n/a
39	chr1:47263713-47263763	NB4	blood:	n/a
40	chr1:47263713-47263763	HIPEpiC	eye:	n/a
41	chr1:47263713-47263763	CMK	blood:	n/a
42	chr1:47263713-47263763	Caco-2	colon:	n/a
43	chr1:47263713-47263763	GM12878	blood:	n/a
44	chr1:47263713-47263763	GM12891	blood:	n/a
45	chr1:47263713-47263763	AG09309	skin:	n/a
46	chr1:47263713-47263763	SK-N-SH	brain:	n/a
47	chr1:47263713-47263763	HMEC	breast:	n/a
48	chr1:47263713-47263763	BE2_C	brain:	n/a
49	chr1:47263713-47263763	SK-N-MC	brain:	n/a
50	chr1:47263713-47263763	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
CYP4B1	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs45473993	1.00[AFR][1000 genomes]
rs45551731	1.00[AFR][1000 genomes]
rs9332979	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1011086	chr1:47259078-47305191	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv870792	chr1:47259138-47272185	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv870538	chr1:47259138-47309265	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47263400-47264000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:47263600-47264600	Enhancers	Esophagus	oesophagus
3	chr1:47263600-47264600	Weak transcription	Gastric	stomach
4	chr1:47263600-47264600	Weak transcription	Lung	lung
5	chr1:47263600-47264800	Enhancers	Duodenum Mucosa	Duodenum
6	chr1:47263600-47264800	Enhancers	NHEK	skin
7	chr1:47263600-47265400	Enhancers	Fetal Intestine Small	intestine

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