Variant report

Variant	rs73750399
Chromosome Location	chr5:37868169-37868170
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:37868040-37868190	BJ	skin:	n/a	n/a
2	CTCF	chr5:37868040-37868190	NHDF-neo	bronchial:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37868169-37868219	ovcar-3	ovarian:	n/a
2	chr5:37868169-37868219	AoSMC	blood vessel:	n/a
3	chr5:37868169-37868219	SAEC	small airway:	n/a
4	chr5:37868169-37868219	SK-N-SH_RA	brain:	n/a
5	chr5:37868169-37868219	HEK293	kidney:	embryo
6	chr5:37868169-37868219	AG04449	skin:	fetal
7	chr5:37868169-37868219	MCF10A-Er-Src	breast:	n/a
8	chr5:37868169-37868219	SKMC	muscle:	n/a
9	chr5:37868169-37868219	GM19239	blood:	n/a
10	chr5:37868169-37868219	PFSK-1	brain:	n/a
11	chr5:37868169-37868219	HIPEpiC	eye:	n/a
12	chr5:37868169-37868219	H1-hESC	embryonic stem cell:	embryo
13	chr5:37868169-37868219	BJ	skin:	n/a
14	chr5:37868169-37868219	SK-N-SH	brain:	n/a
15	chr5:37868169-37868219	GM06990	blood:	n/a
16	chr5:37868169-37868219	GM12892	blood:	n/a
17	chr5:37868169-37868219	U87	brain:	n/a
18	chr5:37868169-37868219	IMR90	lung:	fetal
19	chr5:37868169-37868219	HEEpiC	esophagus:	n/a
20	chr5:37868169-37868219	HUVEC	blood vessel:	n/a
21	chr5:37868169-37868219	AG04450	lung:	fetal
22	chr5:37868169-37868219	ProgFib	skin:	n/a
23	chr5:37868169-37868219	HRCEpiC	kidney:	n/a
24	chr5:37868169-37868219	AG09309	skin:	n/a
25	chr5:37868169-37868219	ECC-1	luminal epithelium:	n/a
26	chr5:37868169-37868219	HCM	heart:	n/a
27	chr5:37868169-37868219	BE2_C	brain:	n/a
28	chr5:37868169-37868219	HRE	kidney:	n/a
29	chr5:37868169-37868219	NB4	blood:	n/a
30	chr5:37868169-37868219	GM12878	blood:	n/a
31	chr5:37868169-37868219	HMEC	breast:	n/a
32	chr5:37868169-37868219	CMK	blood:	n/a
33	chr5:37868169-37868219	Hela-S3	cervix:	n/a
34	chr5:37868169-37868219	Hepatocyte	liver:	n/a
35	chr5:37868169-37868219	NH-A	brain:	n/a
36	chr5:37868169-37868219	HPAEpiC	pulmonary alveolar:	n/a
37	chr5:37868169-37868219	PrEC	prostate:	n/a
38	chr5:37868169-37868219	GM12891	blood:	n/a
39	chr5:37868169-37868219	LNCaP	prostate:	n/a
40	chr5:37868169-37868219	HCF	heart:	n/a
41	chr5:37868169-37868219	HCPEpiC	choroid plexus:	n/a
42	chr5:37868169-37868219	SK-N-MC	brain:	n/a
43	chr5:37868169-37868219	NHDF-neo	bronchial:	n/a
44	chr5:37868169-37868219	NHBE	bronchial:	n/a
45	chr5:37868169-37868219	HNPCEpiC	eye:	n/a
46	chr5:37868169-37868219	A549	lung:	n/a
47	chr5:37868169-37868219	Caco-2	colon:	n/a
48	chr5:37868169-37868219	NT2-D1	testis:	n/a
49	chr5:37868169-37868219	HL-60	blood:	n/a
50	chr5:37868169-37868219	HCT-116	colon:	n/a

No data

Variant related genes	Relation type
GDNF-AS1	TF binding region
GDNF-AS1	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13160030	1.00[ASN][1000 genomes]
rs16903758	1.00[EUR][1000 genomes]
rs2973100	1.00[AMR][1000 genomes]
rs73750397	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs879971	1.00[AMR][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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv881401	chr5:37849688-37901408	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:37867000-37869600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:37867000-37869600	Weak transcription	HMEC	breast
3	chr5:37867000-37875200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:37867200-37868600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:37867400-37868200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:37867400-37868200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:37867400-37868200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:37867800-37868200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:37867800-37868200	Enhancers	Fetal Muscle Leg	muscle
10	chr5:37868000-37868200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:37868000-37868200	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links