Variant report

Variant	rs72625886
Chromosome Location	chr3:23845273-23845274
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:1)
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	chr3:23845240-23845290	SK-N-SH_RA	brain:	n/a
2	chr3:23845240-23845290	HCF	heart:	n/a
3	chr3:23845240-23845290	AG10803	skin:	n/a
4	chr3:23845240-23845290	Hepatocyte	liver:	n/a
5	chr3:23845240-23845290	A549	lung:	n/a
6	chr3:23845240-23845290	PANC-1	pancreas:	n/a
7	chr3:23845240-23845290	GM06990	blood:	n/a
8	chr3:23845240-23845290	GM12891	blood:	n/a
9	chr3:23845240-23845290	Caco-2	colon:	n/a
10	chr3:23845240-23845290	SK-N-MC	brain:	n/a
11	chr3:23845240-23845290	SK-N-SH	brain:	n/a
12	chr3:23845240-23845290	HUVEC	blood vessel:	n/a
13	chr3:23845240-23845290	HRCEpiC	kidney:	n/a
14	chr3:23845240-23845290	HCT-116	colon:	n/a
15	chr3:23845240-23845290	U87	brain:	n/a
16	chr3:23845240-23845290	ProgFib	skin:	n/a
17	chr3:23845240-23845290	HAEpiC	amniotic membrane:	n/a
18	chr3:23845240-23845290	HEEpiC	esophagus:	n/a
19	chr3:23845240-23845290	SAEC	small airway:	n/a
20	chr3:23845240-23845290	MCF10A-Er-Src	breast:	n/a
21	chr3:23845240-23845290	PFSK-1	brain:	n/a
22	chr3:23845240-23845290	Hela-S3	cervix:	n/a
23	chr3:23845240-23845290	AG04449	skin:	fetal
24	chr3:23845240-23845290	LNCaP	prostate:	n/a
25	chr3:23845240-23845290	NT2-D1	testis:	n/a
26	chr3:23845240-23845290	PrEC	prostate:	n/a
27	chr3:23845240-23845290	AG09319	gingival:	n/a
28	chr3:23845240-23845290	ovcar-3	ovarian:	n/a
29	chr3:23845240-23845290	SKMC	muscle:	n/a
30	chr3:23845240-23845290	H1-hESC	embryonic stem cell:	embryo
31	chr3:23845240-23845290	HNPCEpiC	eye:	n/a
32	chr3:23845240-23845290	NHBE	bronchial:	n/a
33	chr3:23845240-23845290	K562	blood:	n/a
34	chr3:23845240-23845290	HRPEpiC	eye:	n/a
35	chr3:23845240-23845290	HCPEpiC	choroid plexus:	n/a
36	chr3:23845240-23845290	CMK	blood:	n/a
37	chr3:23845240-23845290	ECC-1	luminal epithelium:	n/a
38	chr3:23845240-23845290	HPAEpiC	pulmonary alveolar:	n/a
39	chr3:23845240-23845290	NH-A	brain:	n/a
40	chr3:23845240-23845290	NHDF-neo	bronchial:	n/a
41	chr3:23845240-23845290	HEK293	kidney:	embryo
42	chr3:23845240-23845290	HL-60	blood:	n/a
43	chr3:23845240-23845290	MCF-7	breast:	n/a
44	chr3:23845240-23845290	AG04450	lung:	fetal
45	chr3:23845240-23845290	HRE	kidney:	n/a
46	chr3:23845240-23845290	T-47D	breast:	n/a
47	chr3:23845240-23845290	AoSMC	blood vessel:	n/a
48	chr3:23845240-23845290	Jurkat	blood:	n/a
49	chr3:23845240-23845290	HIPEpiC	eye:	n/a
50	chr3:23845240-23845290	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23845112..23848622-chr3:23958029..23961906,4	K562	blood:

No data

Variant related genes	Relation type
UBE2E1	CpG island
ENSG00000174748	Chromatin interaction
ENSG00000197885	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs72625882	1.00[ASN][1000 genomes]
rs72625883	1.00[ASN][1000 genomes]
rs72625884	1.00[ASN][1000 genomes]
rs72625885	1.00[ASN][1000 genomes]
rs72625887	1.00[ASN][1000 genomes]
rs72625888	0.93[ASN][1000 genomes]
rs72625890	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834637	chr3:23703928-23886144	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23840000-23847000	Weak transcription	Right Atrium	heart
2	chr3:23840200-23846800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:23840200-23846800	Weak transcription	GM12878-XiMat	blood
4	chr3:23843800-23846200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:23843800-23846600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:23843800-23846800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:23844400-23845600	Enhancers	Fetal Intestine Large	intestine
8	chr3:23844400-23846800	Enhancers	Fetal Intestine Small	intestine
9	chr3:23844400-23846800	Weak transcription	Small Intestine	intestine
10	chr3:23845200-23845400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:23845200-23845800	Weak transcription	A549	lung

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