Variant report

Variant	rs16845286
Chromosome Location	chr1:225968614-225968615
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225963814..225970754-chr1:225996230..226002908,14	MCF-7	breast:
2	chr1:225966591..225969033-chr1:226010866..226013102,3	MCF-7	breast:
3	chr1:225966963..225971678-chr1:225973611..225976928,7	K562	blood:
4	chr1:225615356..225617168-chr1:225967552..225969284,2	K562	blood:
5	chr1:225964211..225968767-chr1:226248453..226252378,4	K562	blood:
6	chr1:225966585..225968935-chr1:226308385..226311332,2	MCF-7	breast:
7	chr1:225963461..225967975-chr1:225968057..225975345,14	MCF-7	breast:
8	chr1:225967558..225969741-chr1:225995095..225998302,3	MCF-7	breast:
9	chr1:225964533..225968744-chr1:226068261..226071590,3	MCF-7	breast:
10	chr1:225960600..225963224-chr1:225967142..225968691,2	K562	blood:
11	chr1:225968570..225970564-chr1:226082071..226083838,2	K562	blood:
12	chr1:225963904..225970275-chr1:225994893..226001084,15	K562	blood:
13	chr1:225955657..225958331-chr1:225968298..225970381,2	K562	blood:
14	chr1:225964257..225969087-chr1:226030786..226035881,7	K562	blood:
15	chr1:225965000..225971731-chr1:226051573..226055609,6	K562	blood:
16	chr1:225648477..225651119-chr1:225966156..225969061,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242861	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000143815	Chromatin interaction
ENSG00000196187	Chromatin interaction
ENSG00000143819	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000143742	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6703444	1.00[AMR][1000 genomes]
rs74148701	1.00[AMR][1000 genomes]
rs74150504	1.00[AMR][1000 genomes]
rs74150505	1.00[AMR][1000 genomes]
rs74150508	1.00[AMR][1000 genomes]
rs74150518	1.00[AMR][1000 genomes]
rs7548840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225966200-225969000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr1:225966200-225973400	Weak transcription	Esophagus	oesophagus
3	chr1:225966800-225968800	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr1:225966800-225969800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:225966800-225970400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:225966800-225972600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:225966800-225978600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:225967000-225969000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:225967000-225970400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:225967000-225971800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:225967000-225972200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:225967000-225973600	Weak transcription	HSMMtube	muscle
13	chr1:225967200-225968800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:225967200-225968800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:225967200-225968800	Enhancers	Thymus	Thymus
16	chr1:225967200-225969600	Enhancers	Liver	Liver
17	chr1:225967200-225969800	Weak transcription	Fetal Intestine Large	intestine
18	chr1:225967200-225970000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:225967200-225970200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:225967200-225970600	Weak transcription	HSMM	muscle
21	chr1:225967200-225970800	Enhancers	Adipose Nuclei	Adipose
22	chr1:225967200-225971800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:225967200-225972200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:225967200-225972600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:225967200-225978400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:225967400-225968800	Enhancers	Psoas Muscle	Psoas
27	chr1:225967400-225968800	Genic enhancers	NHEK	skin
28	chr1:225967400-225969000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:225967400-225969000	Strong transcription	Placenta	Placenta
30	chr1:225967400-225971800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:225967400-225971800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:225967600-225968800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:225967600-225968800	Genic enhancers	HepG2	liver
34	chr1:225967600-225968800	Genic enhancers	HMEC	breast
35	chr1:225967600-225970600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:225967600-225971000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:225967600-225971200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:225967600-225973600	Weak transcription	Fetal Kidney	kidney
39	chr1:225967800-225968800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:225967800-225968800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:225967800-225968800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:225967800-225968800	Genic enhancers	HUVEC	blood vessel
43	chr1:225967800-225969000	Genic enhancers	H1 Cell Line	embryonic stem cell
44	chr1:225967800-225969000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:225967800-225969000	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:225967800-225969000	Enhancers	Brain Hippocampus Middle	brain
47	chr1:225967800-225969000	Enhancers	Brain Substantia Nigra	brain
48	chr1:225967800-225969000	Genic enhancers	A549	lung
49	chr1:225967800-225969400	Weak transcription	NHLF	lung
50	chr1:225967800-225969600	Enhancers	Brain Anterior Caudate	brain

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