Variant report

Variant	rs11729862
Chromosome Location	chr4:79613545-79613546
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79611783..79613882-chr4:79614566..79616143,2	MCF-7	breast:
2	chr4:79612194..79614576-chr4:79640303..79644240,5	K562	blood:
3	chr4:79608933..79617994-chr4:79691426..79702696,23	K562	blood:
4	chr4:79612799..79615666-chr4:79623635..79625663,2	K562	blood:
5	chr4:79602819..79606934-chr4:79608237..79614104,8	K562	blood:
6	chr4:79604157..79606755-chr4:79612814..79614519,2	MCF-7	breast:
7	chr4:79612194..79615072-chr4:79639914..79642842,7	K562	blood:
8	chr4:79610837..79614309-chr4:79701098..79703975,3	K562	blood:
9	chr4:79612403..79615054-chr4:79627599..79630387,2	K562	blood:
10	chr4:79613186..79614843-chr4:79614928..79617514,2	K562	blood:
11	chr4:79599818..79602237-chr4:79613236..79615179,2	K562	blood:
12	chr4:79603993..79609685-chr4:79610850..79614972,9	K562	blood:
13	chr4:79581907..79584896-chr4:79611311..79615634,4	K562	blood:
14	chr4:79581907..79584896-chr4:79611311..79614789,3	K562	blood:
15	chr4:79549039..79550674-chr4:79611784..79614679,2	K562	blood:
16	chr4:79608764..79617994-chr4:79689698..79699789,21	K562	blood:
17	chr4:79612882..79614522-chr4:79714996..79717232,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138756	Chromatin interaction
ENSG00000260278	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10518201	0.84[EUR][1000 genomes]
rs10518202	0.82[EUR][1000 genomes]
rs11727844	0.81[JPT][hapmap]
rs11728572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12644278	0.82[EUR][1000 genomes]
rs12648219	0.84[EUR][1000 genomes]
rs12648396	0.86[JPT][hapmap]
rs17003427	0.87[EUR][1000 genomes]
rs17003443	0.84[EUR][1000 genomes]
rs1978552	0.84[EUR][1000 genomes]
rs28499303	0.84[EUR][1000 genomes]
rs41418051	0.82[EUR][1000 genomes]
rs4382063	0.94[JPT][hapmap]
rs4432766	0.84[EUR][1000 genomes]
rs57011679	0.84[EUR][1000 genomes]
rs57707267	0.84[EUR][1000 genomes]
rs58634945	0.84[EUR][1000 genomes]
rs59994556	0.84[EUR][1000 genomes]
rs62308350	0.87[EUR][1000 genomes]
rs62308353	0.84[EUR][1000 genomes]
rs62308358	0.84[EUR][1000 genomes]
rs62310760	0.80[EUR][1000 genomes]
rs62310763	0.82[EUR][1000 genomes]
rs6817792	0.85[JPT][hapmap]
rs6839280	0.84[EUR][1000 genomes]
rs6857679	0.84[EUR][1000 genomes]
rs727760	0.84[EUR][1000 genomes]
rs727761	0.84[EUR][1000 genomes]
rs7668240	0.87[JPT][hapmap]
rs9992277	0.84[EUR][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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr4:79609000-79616000	Enhancers	NHDF-Ad	bronchial
2	chr4:79609600-79613600	Enhancers	Osteobl	bone
3	chr4:79610000-79616400	Enhancers	Fetal Intestine Large	intestine
4	chr4:79610600-79617800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:79611400-79616200	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:79611600-79615200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:79611800-79616400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:79612000-79614000	Enhancers	Primary T cells from cord blood	blood
9	chr4:79612200-79613600	Enhancers	HSMM	muscle
10	chr4:79612200-79613800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:79612200-79613800	Enhancers	Primary B cells from peripheral blood	blood
12	chr4:79612200-79614200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:79612200-79616400	Enhancers	Fetal Intestine Small	intestine
14	chr4:79612400-79613800	Enhancers	Adipose Nuclei	Adipose
15	chr4:79612400-79614200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr4:79612600-79613800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:79612600-79613800	Enhancers	Primary B cells from cord blood	blood
18	chr4:79612600-79614200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:79612600-79614200	Enhancers	Left Ventricle	heart
20	chr4:79612600-79615000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:79612600-79615000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:79612800-79614000	Weak transcription	Right Atrium	heart
23	chr4:79612800-79614200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr4:79612800-79614200	Enhancers	Right Ventricle	heart
25	chr4:79613000-79613600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:79613000-79613600	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:79613000-79613600	Enhancers	Brain Hippocampus Middle	brain
28	chr4:79613000-79613800	Enhancers	Brain Anterior Caudate	brain
29	chr4:79613000-79613800	Enhancers	Brain Substantia Nigra	brain
30	chr4:79613000-79614400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:79613200-79613600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:79613200-79613600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr4:79613200-79615000	Enhancers	Fetal Heart	heart
34	chr4:79613400-79613800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:79613400-79613800	Weak transcription	NHLF	lung
36	chr4:79613400-79614000	Flanking Active TSS	K562	blood
37	chr4:79613400-79614200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:79613400-79616000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:79613400-79616600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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