Variant report

Variant	rs2282879
Chromosome Location	chr7:13954540-13954541
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:13953124..13955887-chr7:14024617..14027108,2	K562	blood:

Variant related genes	Relation type
ENSG00000006468	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10950497	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1557946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2040882	0.93[ASN][1000 genomes]
rs2040883	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2040884	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2040885	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237292	0.91[AMR][1000 genomes]
rs2237296	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2282878	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282881	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299093	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299094	0.96[ASN][1000 genomes]
rs2299096	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66974425	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68041021	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7785849	0.96[ASN][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	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv606277	chr7:13907827-13967377	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv606278	chr7:13931182-13959406	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv887700	chr7:13948517-14042702	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13930800-13971000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:13933800-13983600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:13934200-13968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:13934800-13959800	Weak transcription	Pancreas	Pancrea
5	chr7:13944400-13958600	Weak transcription	NHLF	lung
6	chr7:13945600-13974400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:13946200-13958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:13946200-13959800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:13946200-13969200	Weak transcription	Liver	Liver
10	chr7:13949000-13958600	Weak transcription	NH-A	brain
11	chr7:13949000-13959400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:13949000-13969000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:13949200-13958600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:13949200-13958600	Weak transcription	Osteobl	bone
15	chr7:13949200-13959600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:13949200-13969000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:13949200-13969200	Weak transcription	Left Ventricle	heart
18	chr7:13949400-13958600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:13949400-13958600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:13949400-13962200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:13949600-13956200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:13949600-13959000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:13949600-13959800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:13949600-13959800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:13951000-13957600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:13951200-13959800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:13951800-13959600	Weak transcription	Aorta	Aorta
28	chr7:13951800-13959800	Weak transcription	Fetal Stomach	stomach
29	chr7:13952000-13958600	Weak transcription	HSMM	muscle
30	chr7:13953000-13956000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:13953000-13958600	Weak transcription	NHDF-Ad	bronchial
32	chr7:13953000-13958800	Weak transcription	Fetal Kidney	kidney
33	chr7:13953000-13959600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:13953000-13959600	Weak transcription	Fetal Heart	heart
35	chr7:13953000-13959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:13953000-13959800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:13953200-13958600	Weak transcription	Fetal Lung	lung
38	chr7:13954000-13955000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:13954000-13955000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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