Variant report

Variant	rs9783683
Chromosome Location	chr15:42875276-42875277
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:3)
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	CEBPB	chr15:42875148-42875295	HepG2	liver:	n/a	n/a
2	MXI1	chr15:42873165-42876784	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:42875249-42875299	GM12891	blood:	n/a
2	chr15:42875249-42875299	Hela-S3	cervix:	n/a
3	chr15:42875249-42875299	NT2-D1	testis:	n/a
4	chr15:42875249-42875299	PANC-1	pancreas:	n/a
5	chr15:42875249-42875299	MCF-7	breast:	n/a
6	chr15:42875249-42875299	HEK293	kidney:	embryo
7	chr15:42875249-42875299	HIPEpiC	eye:	n/a
8	chr15:42875249-42875299	ovcar-3	ovarian:	n/a
9	chr15:42875249-42875299	H1-hESC	embryonic stem cell:	embryo
10	chr15:42875249-42875299	HCT-116	colon:	n/a
11	chr15:42875249-42875299	K562	blood:	n/a
12	chr15:42875249-42875299	U87	brain:	n/a
13	chr15:42875249-42875299	AG09319	gingival:	n/a
14	chr15:42875249-42875299	AG10803	skin:	n/a
15	chr15:42875249-42875299	HNPCEpiC	eye:	n/a
16	chr15:42875249-42875299	SAEC	small airway:	n/a
17	chr15:42875249-42875299	BE2_C	brain:	n/a
18	chr15:42875249-42875299	HCM	heart:	n/a
19	chr15:42875249-42875299	T-47D	breast:	n/a
20	chr15:42875249-42875299	HRPEpiC	eye:	n/a
21	chr15:42875249-42875299	Hepatocyte	liver:	n/a
22	chr15:42875249-42875299	ECC-1	luminal epithelium:	n/a
23	chr15:42875249-42875299	PrEC	prostate:	n/a
24	chr15:42875249-42875299	HMEC	breast:	n/a
25	chr15:42875249-42875299	SK-N-SH	brain:	n/a
26	chr15:42875249-42875299	RPTEC	kidney:	n/a
27	chr15:42875249-42875299	A549	lung:	n/a
28	chr15:42875249-42875299	NB4	blood:	n/a
29	chr15:42875249-42875299	PFSK-1	brain:	n/a
30	chr15:42875249-42875299	HAEpiC	amniotic membrane:	n/a
31	chr15:42875249-42875299	HEEpiC	esophagus:	n/a
32	chr15:42875249-42875299	Caco-2	colon:	n/a
33	chr15:42875249-42875299	SKMC	muscle:	n/a
34	chr15:42875249-42875299	GM12892	blood:	n/a
35	chr15:42875249-42875299	CMK	blood:	n/a
36	chr15:42875249-42875299	SK-N-SH_RA	brain:	n/a
37	chr15:42875249-42875299	BJ	skin:	n/a
38	chr15:42875249-42875299	NH-A	brain:	n/a
39	chr15:42875249-42875299	AG04450	lung:	fetal
40	chr15:42875249-42875299	MCF10A-Er-Src	breast:	n/a
41	chr15:42875249-42875299	HepG2	liver:	n/a
42	chr15:42875249-42875299	HPAEpiC	pulmonary alveolar:	n/a
43	chr15:42875249-42875299	GM06990	blood:	n/a
44	chr15:42875249-42875299	LNCaP	prostate:	n/a
45	chr15:42875249-42875299	HCF	heart:	n/a
46	chr15:42875249-42875299	HUVEC	blood vessel:	n/a
47	chr15:42875249-42875299	IMR90	lung:	fetal
48	chr15:42875249-42875299	AoSMC	blood vessel:	n/a
49	chr15:42875249-42875299	HCPEpiC	choroid plexus:	n/a
50	chr15:42875249-42875299	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:42869958..42872408-chr15:42873710..42876257,4	K562	blood:
2	chr15:42864913..42867956-chr15:42873975..42876475,3	K562	blood:
3	chr15:42874834..42878108-chr15:42881601..42883971,4	K562	blood:

No data

Variant related genes	Relation type
EIF4EBP2P2	TF binding region
EIF4EBP2P2	CpG island
ENSG00000159433	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11070374	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11631193	0.84[AMR][1000 genomes]
rs1197547	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs12102055	1.00[YRI][hapmap]
rs12594483	1.00[YRI][hapmap]
rs12594855	1.00[YRI][hapmap]
rs12903416	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12906497	1.00[YRI][hapmap]
rs12917018	1.00[YRI][hapmap]
rs12917189	1.00[YRI][hapmap]
rs1667493	0.88[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16957091	1.00[YRI][hapmap]
rs1995939	1.00[YRI][hapmap]
rs2241827	1.00[YRI][hapmap]
rs2241998	0.87[AMR][1000 genomes]
rs2280048	1.00[YRI][hapmap]
rs2412711	1.00[YRI][hapmap]
rs2412741	1.00[YRI][hapmap]
rs3115883	1.00[YRI][hapmap]
rs3199486	1.00[YRI][hapmap]
rs3742987	1.00[YRI][hapmap]
rs3742988	1.00[YRI][hapmap]
rs4924690	1.00[YRI][hapmap]
rs6493053	0.84[AMR][1000 genomes]
rs6493060	1.00[YRI][hapmap]
rs6493061	1.00[YRI][hapmap]
rs7166373	1.00[YRI][hapmap]
rs7166775	1.00[YRI][hapmap]
rs7168835	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7169009	1.00[YRI][hapmap]
rs7169202	1.00[YRI][hapmap]
rs7174041	1.00[YRI][hapmap]
rs8027427	1.00[YRI][hapmap]
rs8034447	1.00[YRI][hapmap]
rs8043472	1.00[YRI][hapmap]

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	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9783683	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42869000-42887400	Weak transcription	Small Intestine	intestine
2	chr15:42873400-42877000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:42873400-42877200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:42873800-42875600	Enhancers	Left Ventricle	heart
5	chr15:42873800-42876200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:42873800-42877000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:42873800-42878200	Weak transcription	Esophagus	oesophagus
8	chr15:42874000-42875400	Enhancers	NHDF-Ad	bronchial
9	chr15:42874000-42876000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:42874000-42876400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr15:42874000-42876800	Enhancers	Fetal Thymus	thymus
12	chr15:42874000-42877000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:42874000-42877000	Flanking Active TSS	Fetal Heart	heart
14	chr15:42874000-42878000	Enhancers	K562	blood
15	chr15:42874000-42883000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:42874200-42875400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr15:42874200-42875400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
18	chr15:42874200-42875400	Enhancers	Fetal Stomach	stomach
19	chr15:42874200-42875600	Enhancers	Right Ventricle	heart
20	chr15:42874200-42875600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr15:42874200-42875800	Enhancers	Brain Substantia Nigra	brain
22	chr15:42874200-42876000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:42874200-42876000	Weak transcription	NH-A	brain
24	chr15:42874200-42876200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:42874200-42876200	Enhancers	Brain Hippocampus Middle	brain
26	chr15:42874200-42876200	Enhancers	Fetal Muscle Leg	muscle
27	chr15:42874200-42876400	Weak transcription	HSMM	muscle
28	chr15:42874200-42876600	Enhancers	Brain Anterior Caudate	brain
29	chr15:42874200-42876800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr15:42874200-42877000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr15:42874200-42877000	Enhancers	Adipose Nuclei	Adipose
32	chr15:42874200-42877000	Enhancers	HepG2	liver
33	chr15:42874200-42877200	Enhancers	Primary hematopoietic stem cells	blood
34	chr15:42874200-42877200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr15:42874200-42877400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:42874200-42879400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr15:42874200-42880800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr15:42874200-42883400	Weak transcription	NHEK	skin
39	chr15:42874200-42883600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr15:42874200-42885800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:42874200-42894400	Weak transcription	A549	lung
42	chr15:42874200-42896600	Weak transcription	Hela-S3	cervix
43	chr15:42874400-42876000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:42874400-42876000	Weak transcription	HUVEC	blood vessel
45	chr15:42874400-42876200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:42874400-42876200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:42874400-42876200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:42874400-42876200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr15:42874400-42876200	Weak transcription	HMEC	breast
50	chr15:42874400-42876400	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links