Variant report

Variant	rs16835464
Chromosome Location	chr1:153549673-153549674
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153547912..153551190-chr1:153580716..153583524,6	MCF-7	breast:
2	chr1:153548198..153549915-chr1:153576561..153578484,2	K562	blood:
3	chr1:153533881..153554060-chr1:153575339..153590405,58	MCF-7	breast:
4	chr1:153541035..153543212-chr1:153549129..153551158,2	MCF-7	breast:
5	chr1:153548195..153551258-chr1:153612052..153615692,3	MCF-7	breast:
6	chr1:153539127..153551919-chr1:153598146..153608314,34	MCF-7	breast:
7	chr1:153548576..153554481-chr1:153583646..153588821,6	MCF-7	breast:
8	chr1:153548336..153551031-chr1:153934523..153936672,2	MCF-7	breast:
9	chr1:153547134..153549764-chr1:153700485..153703483,2	MCF-7	breast:
10	chr1:153549087..153551237-chr1:153598538..153601240,4	MCF-7	breast:
11	chr1:153549624..153551143-chr1:153570106..153572886,2	MCF-7	breast:
12	chr1:153547283..153551329-chr1:153605109..153608605,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272030	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000160678	Chromatin interaction
ENSG00000160679	Chromatin interaction
ENSG00000189334	Chromatin interaction
ENSG00000271853	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28636749	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28715047	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55815414	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55963294	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57034503	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs60069797	1.00[EUR][1000 genomes]
rs9662163	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9662917	0.81[EUR][1000 genomes]
rs9728377	0.83[ASN][1000 genomes]
rs9729105	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153539600-153554000	Weak transcription	Ovary	ovary
2	chr1:153541600-153550200	Weak transcription	Right Atrium	heart
3	chr1:153545000-153550200	Weak transcription	Esophagus	oesophagus
4	chr1:153545200-153550200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:153545400-153550200	Weak transcription	Brain Anterior Caudate	brain
6	chr1:153545800-153551400	Weak transcription	Spleen	Spleen
7	chr1:153546000-153549800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:153546000-153549800	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:153546000-153549800	Weak transcription	A549	lung
10	chr1:153546000-153556600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:153546200-153549800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:153546200-153549800	Weak transcription	Primary B cells from cord blood	blood
13	chr1:153546200-153549800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:153546200-153549800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:153546200-153549800	Weak transcription	HSMM	muscle
16	chr1:153546200-153549800	Weak transcription	NHDF-Ad	bronchial
17	chr1:153546200-153549800	Weak transcription	NHLF	lung
18	chr1:153546200-153549800	Weak transcription	Osteobl	bone
19	chr1:153546200-153550200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:153546200-153550200	Weak transcription	HMEC	breast
21	chr1:153546200-153550400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:153546200-153550400	Weak transcription	Adipose Nuclei	Adipose
23	chr1:153546600-153549800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:153546600-153549800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:153546800-153550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:153546800-153556600	Weak transcription	NH-A	brain
27	chr1:153548000-153550400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:153548800-153549800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:153548800-153549800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:153548800-153552200	Enhancers	Placenta	Placenta
31	chr1:153549200-153549800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:153549400-153549800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:153549400-153549800	Enhancers	NHEK	skin
34	chr1:153549400-153550000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr1:153549400-153550000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr1:153549400-153550000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:153549400-153550000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:153549400-153550600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr1:153549400-153551600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:153549400-153551800	Enhancers	HSMMtube	muscle
41	chr1:153549600-153550000	Enhancers	Primary B cells from peripheral blood	blood
42	chr1:153549600-153550000	Flanking Active TSS	Hela-S3	cervix
43	chr1:153549600-153550200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:153549600-153550400	Enhancers	Stomach Mucosa	stomach
45	chr1:153549600-153550600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:153549600-153551000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:153549600-153551800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:153549600-153552200	Enhancers	Placenta Amnion	Placenta Amnion

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