Variant report

Variant	rs6714441
Chromosome Location	chr2:48104044-48104045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48103902..48106772-chr2:48131218..48134049,3	K562	blood:
2	chr2:48102583..48106295-chr2:48106906..48109315,3	K562	blood:
3	chr2:48096451..48099151-chr2:48102186..48104551,2	MCF-7	breast:
4	chr2:48098108..48101004-chr2:48103114..48104989,3	K562	blood:

Variant related genes	Relation type
ENSG00000233230	Chromatin interaction
ENSG00000138081	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10495947	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17036996	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17037002	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17037018	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17037038	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2134056	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60154625	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60866242	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6704872	1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6723441	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73929251	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7572674	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7587289	0.93[CEU][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv930955	chr2:48040218-48121218	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523013	chr2:48073117-48146122	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6714441	PREPL	cis	cerebellum	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48065400-48114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:48067000-48122000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:48084400-48108000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:48089800-48121000	Weak transcription	Aorta	Aorta
5	chr2:48095000-48107800	Weak transcription	NHLF	lung
6	chr2:48095000-48118200	Weak transcription	NH-A	brain
7	chr2:48095200-48118400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:48095200-48127200	Weak transcription	Fetal Kidney	kidney
9	chr2:48095400-48109400	Weak transcription	Brain Germinal Matrix	brain
10	chr2:48095400-48118200	Weak transcription	HMEC	breast
11	chr2:48095400-48129600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:48096000-48105800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:48096000-48108000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:48096000-48109200	Weak transcription	A549	lung
15	chr2:48096000-48123400	Weak transcription	Esophagus	oesophagus
16	chr2:48097800-48123400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:48098000-48118400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:48098000-48122400	Weak transcription	Fetal Brain Male	brain
19	chr2:48098200-48109400	Weak transcription	Fetal Brain Female	brain
20	chr2:48098200-48115200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:48098200-48115400	Weak transcription	HSMM	muscle
22	chr2:48098400-48105000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:48098400-48105800	Weak transcription	Ovary	ovary
24	chr2:48098400-48108000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:48098400-48110200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:48098400-48112400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:48098400-48117400	Weak transcription	Placenta	Placenta
28	chr2:48098400-48119600	Weak transcription	Liver	Liver
29	chr2:48098400-48125000	Weak transcription	HUVEC	blood vessel
30	chr2:48098600-48109400	Weak transcription	Fetal Lung	lung
31	chr2:48098600-48117600	Weak transcription	Left Ventricle	heart
32	chr2:48098600-48119200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:48098600-48121000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:48098600-48129000	Weak transcription	Gastric	stomach
35	chr2:48098600-48129000	Weak transcription	Pancreas	Pancrea
36	chr2:48098800-48109400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:48099000-48118200	Weak transcription	NHDF-Ad	bronchial
38	chr2:48099400-48109200	Weak transcription	Hela-S3	cervix
39	chr2:48099400-48115800	Weak transcription	Fetal Heart	heart
40	chr2:48099600-48105000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:48099600-48118400	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:48099800-48112400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:48099800-48115200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:48100400-48115600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:48100600-48121000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:48100600-48129200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:48100800-48105000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:48100800-48107800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:48100800-48108000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:48100800-48109200	Weak transcription	Primary B cells from cord blood	blood

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