Variant report

Variant	rs72722376
Chromosome Location	chr14:64850969-64850970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr14:64850899-64851098	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:64850923-64850973	HCM	heart:	n/a
2	chr14:64850923-64850973	H1-hESC	embryonic stem cell:	embryo
3	chr14:64850923-64850973	AoSMC	blood vessel:	n/a
4	chr14:64850923-64850973	SK-N-SH	brain:	n/a
5	chr14:64850923-64850973	NHDF-neo	bronchial:	n/a
6	chr14:64850923-64850973	HEK293	kidney:	embryo
7	chr14:64850923-64850973	NT2-D1	testis:	n/a
8	chr14:64850923-64850973	HAEpiC	amniotic membrane:	n/a
9	chr14:64850923-64850973	HUVEC	blood vessel:	n/a
10	chr14:64850923-64850973	HMEC	breast:	n/a
11	chr14:64850923-64850973	BE2_C	brain:	n/a
12	chr14:64850923-64850973	T-47D	breast:	n/a
13	chr14:64850923-64850973	HRPEpiC	eye:	n/a
14	chr14:64850923-64850973	MCF-7	breast:	n/a
15	chr14:64850923-64850973	LNCaP	prostate:	n/a
16	chr14:64850923-64850973	Jurkat	blood:	n/a
17	chr14:64850923-64850973	HCPEpiC	choroid plexus:	n/a
18	chr14:64850923-64850973	HCF	heart:	n/a
19	chr14:64850923-64850973	HRE	kidney:	n/a
20	chr14:64850923-64850973	U87	brain:	n/a
21	chr14:64850923-64850973	HL-60	blood:	n/a
22	chr14:64850923-64850973	Hela-S3	cervix:	n/a
23	chr14:64850923-64850973	AG09319	gingival:	n/a
24	chr14:64850923-64850973	HNPCEpiC	eye:	n/a
25	chr14:64850923-64850973	GM12892	blood:	n/a
26	chr14:64850923-64850973	PANC-1	pancreas:	n/a
27	chr14:64850923-64850973	HRCEpiC	kidney:	n/a
28	chr14:64850923-64850973	PrEC	prostate:	n/a
29	chr14:64850923-64850973	AG09309	skin:	n/a
30	chr14:64850923-64850973	GM12891	blood:	n/a
31	chr14:64850923-64850973	ProgFib	skin:	n/a
32	chr14:64850923-64850973	A549	lung:	n/a
33	chr14:64850923-64850973	NHBE	bronchial:	n/a
34	chr14:64850923-64850973	AG10803	skin:	n/a
35	chr14:64850923-64850973	SK-N-SH_RA	brain:	n/a
36	chr14:64850923-64850973	GM12878	blood:	n/a
37	chr14:64850923-64850973	IMR90	lung:	fetal
38	chr14:64850923-64850973	SKMC	muscle:	n/a
39	chr14:64850923-64850973	BJ	skin:	n/a
40	chr14:64850923-64850973	SK-N-MC	brain:	n/a
41	chr14:64850923-64850973	HCT-116	colon:	n/a
42	chr14:64850923-64850973	PFSK-1	brain:	n/a
43	chr14:64850923-64850973	AG04450	lung:	fetal
44	chr14:64850923-64850973	GM06990	blood:	n/a
45	chr14:64850923-64850973	AG04449	skin:	fetal
46	chr14:64850923-64850973	MCF10A-Er-Src	breast:	n/a
47	chr14:64850923-64850973	HEEpiC	esophagus:	n/a
48	chr14:64850923-64850973	ovcar-3	ovarian:	n/a
49	chr14:64850923-64850973	Caco-2	colon:	n/a
50	chr14:64850923-64850973	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:64849072..64851783-chr14:64852563..64854681,2	K562	blood:
2	chr14:64849395..64851590-chr14:64852646..64856063,3	MCF-7	breast:
3	chr14:64849483..64852419-chr14:64853173..64856118,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258809	TF binding region
MTHFD1	TF binding region
ENSG00000258809	CpG island
MTHFD1	CpG island
ENSG00000100714	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10145700	0.96[ASN][1000 genomes]
rs11158537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158538	0.96[ASN][1000 genomes]
rs2983733	0.99[ASN][1000 genomes]
rs2983738	0.99[ASN][1000 genomes]
rs2983739	0.94[ASN][1000 genomes]
rs2983746	0.97[ASN][1000 genomes]
rs2983747	0.96[ASN][1000 genomes]
rs2987962	0.90[ASN][1000 genomes]
rs2987973	0.93[ASN][1000 genomes]
rs2987979	0.97[ASN][1000 genomes]
rs2987984	0.90[ASN][1000 genomes]
rs3020442	0.96[ASN][1000 genomes]
rs3783731	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56029832	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57845486	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006686	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8011839	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015898	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8020827	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 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	chr14:64816400-64853400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:64839200-64853800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:64843800-64853400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:64844200-64854000	Weak transcription	Ovary	ovary
5	chr14:64847000-64853000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:64848600-64852400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:64849400-64854000	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links