Variant report

Variant	rs74016412
Chromosome Location	chr15:51911838-51911839
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51880604..51882848-chr15:51911429..51913182,2	K562	blood:
2	chr15:51891895..51894416-chr15:51910395..51912936,2	MCF-7	breast:
3	chr15:51867858..51870463-chr15:51910952..51912815,2	K562	blood:
4	chr15:51898533..51902972-chr15:51911457..51915866,6	MCF-7	breast:
5	chr15:51893271..51898734-chr15:51911463..51916763,7	K562	blood:
6	chr15:51908587..51912201-chr15:51937808..51939895,3	K562	blood:
7	chr15:51911576..51916583-chr15:52027382..52031699,5	MCF-7	breast:
8	chr15:51909656..51912551-chr15:51913812..51915688,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000140280	Chromatin interaction
ENSG00000104093	Chromatin interaction
ENSG00000263437	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12101851	1.00[AMR][1000 genomes]
rs56246647	1.00[AMR][1000 genomes]
rs56392335	1.00[AMR][1000 genomes]
rs57155911	1.00[AMR][1000 genomes]
rs58735105	1.00[AMR][1000 genomes]
rs59861752	1.00[AMR][1000 genomes]
rs61514213	1.00[AMR][1000 genomes]
rs61628696	1.00[AMR][1000 genomes]
rs7174890	1.00[AMR][1000 genomes]
rs74013204	1.00[AMR][1000 genomes]
rs74013206	1.00[AMR][1000 genomes]
rs74013208	1.00[AMR][1000 genomes]
rs74013273	1.00[AMR][1000 genomes]
rs74013274	1.00[AMR][1000 genomes]
rs74013281	1.00[AMR][1000 genomes]
rs74013294	1.00[AMR][1000 genomes]
rs74013295	1.00[AMR][1000 genomes]
rs74013296	1.00[AMR][1000 genomes]
rs74013297	1.00[AMR][1000 genomes]
rs74013300	1.00[AMR][1000 genomes]
rs74013301	1.00[AMR][1000 genomes]
rs74013497	1.00[AMR][1000 genomes]
rs74013501	1.00[AMR][1000 genomes]
rs74013502	1.00[AMR][1000 genomes]
rs74015704	1.00[AMR][1000 genomes]
rs74015707	1.00[AMR][1000 genomes]
rs74015710	1.00[AMR][1000 genomes]
rs74016403	1.00[AMR][1000 genomes]
rs74016405	1.00[AMR][1000 genomes]
rs74016406	1.00[AMR][1000 genomes]
rs74016411	1.00[AMR][1000 genomes]
rs74016423	1.00[AMR][1000 genomes]
rs8024353	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv904219	chr15:51851999-51977159	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
3	nsv457139	chr15:51854718-51977159	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
4	nsv569407	chr15:51854718-51977159	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
5	nsv569408	chr15:51867172-51946100	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51892600-51913000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:51895200-51913000	Weak transcription	HMEC	breast
3	chr15:51903600-51913600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:51904200-51914000	Weak transcription	Lung	lung
5	chr15:51904400-51912800	Weak transcription	Fetal Stomach	stomach
6	chr15:51905200-51912800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr15:51905200-51913000	Weak transcription	NHDF-Ad	bronchial
8	chr15:51905800-51912800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:51906000-51913000	Weak transcription	Adipose Nuclei	Adipose
10	chr15:51906200-51912800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:51906200-51914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:51906200-51914000	Weak transcription	Ovary	ovary
13	chr15:51906200-51914000	Weak transcription	Small Intestine	intestine
14	chr15:51906400-51913000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:51906800-51913000	Weak transcription	Fetal Intestine Large	intestine
16	chr15:51906800-51913000	Weak transcription	Fetal Intestine Small	intestine
17	chr15:51906800-51914200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:51907000-51914000	Weak transcription	Psoas Muscle	Psoas
19	chr15:51907400-51912800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:51908800-51912600	Weak transcription	Fetal Lung	lung
21	chr15:51909600-51912200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr15:51910400-51912600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:51910400-51912800	Weak transcription	Fetal Kidney	kidney
24	chr15:51910800-51912000	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr15:51910800-51912600	Enhancers	A549	lung
26	chr15:51911400-51912800	Enhancers	Dnd41	blood
27	chr15:51911400-51913000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr15:51911400-51913400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr15:51911400-51915800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:51911600-51912000	Enhancers	Rectal Smooth Muscle	rectum
31	chr15:51911600-51912000	Flanking Active TSS	K562	blood
32	chr15:51911600-51912200	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr15:51911600-51912200	Flanking Active TSS	GM12878-XiMat	blood
34	chr15:51911600-51912400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:51911600-51912400	Enhancers	Fetal Brain Female	brain
36	chr15:51911600-51912800	Enhancers	Fetal Brain Male	brain
37	chr15:51911600-51913000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:51911600-51913000	Enhancers	Duodenum Mucosa	Duodenum
39	chr15:51911600-51913200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:51911600-51916000	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr15:51911800-51912000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr15:51911800-51912000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:51911800-51912000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr15:51911800-51912200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:51911800-51912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:51911800-51912200	Active TSS	Brain Angular Gyrus	brain
47	chr15:51911800-51912400	Enhancers	Brain Substantia Nigra	brain
48	chr15:51911800-51912400	Active TSS	Hela-S3	cervix
49	chr15:51911800-51912600	Weak transcription	Brain Anterior Caudate	brain
50	chr15:51911800-51912600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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