Variant report

Variant	rs2841506
Chromosome Location	chr6:13575893-13575894
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13484664..13490672-chr6:13572714..13577234,9	K562	blood:
2	chr6:13572897..13576165-chr6:13619318..13622919,5	K562	blood:
3	chr6:13573088..13576408-chr6:13709684..13713261,5	MCF-7	breast:
4	chr6:13358275..13360679-chr6:13575096..13577524,3	MCF-7	breast:
5	chr6:13572710..13576955-chr6:13610549..13618685,22	MCF-7	breast:
6	chr6:13326831..13329117-chr6:13574155..13576632,2	K562	blood:
7	chr6:13484642..13487748-chr6:13572714..13576594,3	K562	blood:
8	chr6:13573221..13576787-chr6:13710917..13713733,6	K562	blood:
9	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
10	chr6:13535769..13538764-chr6:13574933..13577249,3	MCF-7	breast:
11	chr6:13573004..13578027-chr6:13613856..13617870,10	MCF-7	breast:
12	chr6:13575661..13578195-chr6:13588968..13591266,4	K562	blood:
13	chr6:13572493..13576795-chr6:13677578..13681816,6	K562	blood:
14	chr6:13406137..13408577-chr6:13573927..13576170,2	MCF-7	breast:
15	chr6:13572923..13577086-chr6:13614342..13617597,6	K562	blood:
16	chr6:13574510..13576795-chr6:13678124..13681559,3	K562	blood:
17	chr6:13287477..13291631-chr6:13573758..13576939,3	K562	blood:
18	chr6:13572897..13576165-chr6:13620913..13622919,3	K562	blood:
19	chr14:94502993..94503582-chr6:13575541..13576079,2	MCF-7	breast:
20	chr6:13274197..13275936-chr6:13573987..13576342,2	K562	blood:
21	chr6:13485388..13489511-chr6:13572660..13577514,13	MCF-7	breast:
22	chr6:13572865..13577994-chr6:13612366..13619020,17	K562	blood:
23	chr6:13327393..13331113-chr6:13573725..13577168,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145979	Chromatin interaction
ENSG00000268059	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000272379	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000187461	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000252966	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11753306	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2328676	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804910	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804911	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804914	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2804916	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804917	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804919	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804920	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2804922	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2804924	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804925	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2804926	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2804927	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841505	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841507	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841508	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841509	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2841511	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4712037	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	esv3367329	chr6:13573423-13576971	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2841506	SIRT5	cis	Thyroid	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13574000-13576000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:13574000-13576000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:13574000-13576000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:13574000-13576200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:13574200-13576000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr6:13574200-13576000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:13574200-13576000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:13574200-13576000	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr6:13574200-13576200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:13574200-13576400	Active TSS	Brain Hippocampus Middle	brain
11	chr6:13574200-13576400	Active TSS	GM12878-XiMat	blood
12	chr6:13575000-13576000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr6:13575000-13576200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:13575200-13576200	Flanking Active TSS	Dnd41	blood
15	chr6:13575200-13576200	Flanking Active TSS	K562	blood
16	chr6:13575400-13576400	Enhancers	Fetal Heart	heart
17	chr6:13575600-13576000	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:13575600-13576000	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr6:13575600-13576000	Enhancers	Brain Substantia Nigra	brain
20	chr6:13575600-13576000	Weak transcription	Small Intestine	intestine
21	chr6:13575600-13576000	Active TSS	HMEC	breast
22	chr6:13575600-13576200	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:13575600-13576200	Enhancers	Primary T cells from cord blood	blood
24	chr6:13575600-13576200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:13575600-13576200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:13575600-13576200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:13575600-13576200	Enhancers	Placenta	Placenta
28	chr6:13575600-13576200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr6:13575600-13576400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:13575600-13576400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:13575600-13576600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr6:13575600-13577400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:13575600-13580000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:13575600-13580200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:13575600-13580200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:13575600-13580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:13575600-13580200	Weak transcription	Ovary	ovary
38	chr6:13575600-13580200	Weak transcription	Spleen	Spleen
39	chr6:13575600-13580800	Weak transcription	Aorta	Aorta
40	chr6:13575600-13580800	Weak transcription	Left Ventricle	heart
41	chr6:13575600-13581400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr6:13575600-13581600	Weak transcription	Psoas Muscle	Psoas
43	chr6:13575600-13581600	Weak transcription	Right Ventricle	heart
44	chr6:13575600-13581600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:13575600-13581800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:13575600-13581800	Weak transcription	Brain Angular Gyrus	brain
47	chr6:13575600-13581800	Weak transcription	Lung	lung
48	chr6:13575600-13584000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:13575600-13584400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:13575600-13584400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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