Variant report

Variant	rs749308
Chromosome Location	chr2:95523754-95523755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr2:95523749-95524020	HepG2	liver:	n/a	chr2:95523822-95523831
2	POU2F2	chr2:95522628-95524124	GM12878	blood:	n/a	chr2:95523757-95523769
3	NR3C1	chr2:95523442-95524084	A549	lung:	n/a	chr2:95523921-95523935 chr2:95523920-95523936 chr2:95523921-95523936
4	TCF3	chr2:95523537-95524013	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:95523721-95523771	HNPCEpiC	eye:	n/a
2	chr2:95523721-95523771	Jurkat	blood:	n/a
3	chr2:95523721-95523771	HCF	heart:	n/a
4	chr2:95523721-95523771	BE2_C	brain:	n/a
5	chr2:95523721-95523771	HL-60	blood:	n/a
6	chr2:95523721-95523771	GM19239	blood:	n/a
7	chr2:95523721-95523771	NHDF-neo	bronchial:	n/a
8	chr2:95523721-95523771	HEK293	kidney:	embryo
9	chr2:95523721-95523771	H1-hESC	embryonic stem cell:	embryo
10	chr2:95523721-95523771	GM12892	blood:	n/a
11	chr2:95523721-95523771	AG09309	skin:	n/a
12	chr2:95523721-95523771	NH-A	brain:	n/a
13	chr2:95523721-95523771	AG10803	skin:	n/a
14	chr2:95523721-95523771	HCPEpiC	choroid plexus:	n/a
15	chr2:95523721-95523771	RPTEC	kidney:	n/a
16	chr2:95523721-95523771	HRCEpiC	kidney:	n/a
17	chr2:95523721-95523771	SAEC	small airway:	n/a
18	chr2:95523721-95523771	HepG2	liver:	n/a
19	chr2:95523721-95523771	PFSK-1	brain:	n/a
20	chr2:95523721-95523771	PANC-1	pancreas:	n/a
21	chr2:95523721-95523771	HUVEC	blood vessel:	n/a
22	chr2:95523721-95523771	ovcar-3	ovarian:	n/a
23	chr2:95523721-95523771	Hela-S3	cervix:	n/a
24	chr2:95523721-95523771	AG04449	skin:	fetal
25	chr2:95523721-95523771	IMR90	lung:	fetal
26	chr2:95523721-95523771	HPAEpiC	pulmonary alveolar:	n/a
27	chr2:95523721-95523771	HEEpiC	esophagus:	n/a
28	chr2:95523721-95523771	LNCaP	prostate:	n/a
29	chr2:95523721-95523771	HAEpiC	amniotic membrane:	n/a
30	chr2:95523721-95523771	HIPEpiC	eye:	n/a
31	chr2:95523721-95523771	AG04450	lung:	fetal
32	chr2:95523721-95523771	Hepatocyte	liver:	n/a
33	chr2:95523721-95523771	SKMC	muscle:	n/a
34	chr2:95523721-95523771	K562	blood:	n/a
35	chr2:95523721-95523771	NHBE	bronchial:	n/a
36	chr2:95523721-95523771	GM12878	blood:	n/a
37	chr2:95523721-95523771	HCT-116	colon:	n/a
38	chr2:95523721-95523771	HRPEpiC	eye:	n/a
39	chr2:95523721-95523771	A549	lung:	n/a
40	chr2:95523721-95523771	T-47D	breast:	n/a
41	chr2:95523721-95523771	Caco-2	colon:	n/a
42	chr2:95523721-95523771	GM06990	blood:	n/a
43	chr2:95523721-95523771	NB4	blood:	n/a
44	chr2:95523721-95523771	HCM	heart:	n/a
45	chr2:95523721-95523771	BJ	skin:	n/a
46	chr2:95523721-95523771	SK-N-MC	brain:	n/a
47	chr2:95523721-95523771	CMK	blood:	n/a
48	chr2:95523721-95523771	NT2-D1	testis:	n/a
49	chr2:95523721-95523771	SK-N-SH	brain:	n/a
50	chr2:95523721-95523771	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
ANKRD20A8P	TF binding region
ANKRD20A8P	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10874467	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11883879	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12612789	0.82[EUR][1000 genomes]
rs13414018	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2004626	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2077443	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28680439	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34087291	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4854231	0.87[EUR][1000 genomes]
rs4854232	0.83[EUR][1000 genomes]
rs62146933	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2759075	chr2:95358799-95620108	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs749308	AC073464.7	cis	Esophagus Mucosa	GTEx
rs749308	CYP4F32P	cis	Esophagus Mucosa	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95522400-95523800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:95522600-95523800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:95522600-95523800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr2:95522800-95523800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:95522800-95523800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:95522800-95523800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:95522800-95523800	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr2:95523000-95523800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr2:95523000-95523800	Active TSS	Dnd41	blood
10	chr2:95523200-95523800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:95523200-95523800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:95523200-95523800	Enhancers	Gastric	stomach
13	chr2:95523200-95523800	Flanking Active TSS	Pancreas	Pancrea
14	chr2:95523200-95523800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
15	chr2:95523200-95524600	ZNF genes & repeats	Spleen	Spleen
16	chr2:95523400-95523800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
17	chr2:95523400-95523800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
18	chr2:95523400-95523800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:95523400-95524400	ZNF genes & repeats	Lung	lung
20	chr2:95523600-95523800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:95523600-95523800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:95523600-95523800	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
23	chr2:95523600-95523800	Bivalent Enhancer	Adipose Nuclei	Adipose
24	chr2:95523600-95523800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
25	chr2:95523600-95523800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr2:95523600-95523800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
27	chr2:95523600-95523800	Bivalent Enhancer	Brain Substantia Nigra	brain
28	chr2:95523600-95523800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
29	chr2:95523600-95523800	Enhancers	Esophagus	oesophagus
30	chr2:95523600-95523800	Flanking Bivalent TSS/Enh	Placenta	Placenta
31	chr2:95523600-95523800	Bivalent Enhancer	Fetal Stomach	stomach
32	chr2:95523600-95523800	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr2:95523600-95523800	Bivalent Enhancer	A549	lung
34	chr2:95523600-95523800	Bivalent Enhancer	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links