Variant report

Variant	rs2804926
Chromosome Location	chr6:13575682-13575683
allele	A/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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 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	chr15:93352658..93353196-chr6:13574785..13575714,3	Hela-S3	cervix:
5	chr6:13358275..13360679-chr6:13575096..13577524,3	MCF-7	breast:
6	chr6:13572710..13576955-chr6:13610549..13618685,22	MCF-7	breast:
7	chr6:13326831..13329117-chr6:13574155..13576632,2	K562	blood:
8	chr6:13484642..13487748-chr6:13572714..13576594,3	K562	blood:
9	chr6:13573221..13576787-chr6:13710917..13713733,6	K562	blood:
10	chr6:13575265..13575767-chr9:136355658..136356179,2	Hela-S3	cervix:
11	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
12	chr15:44067639..44068140-chr6:13575131..13575783,2	Hela-S3	cervix:
13	chr6:13535769..13538764-chr6:13574933..13577249,3	MCF-7	breast:
14	chr6:13574892..13575841-chr6:13614462..13615340,2	K562	blood:
15	chr6:13573004..13578027-chr6:13613856..13617870,10	MCF-7	breast:
16	chr6:13575661..13578195-chr6:13588968..13591266,4	K562	blood:
17	chr6:13572493..13576795-chr6:13677578..13681816,6	K562	blood:
18	chr6:13406137..13408577-chr6:13573927..13576170,2	MCF-7	breast:
19	chr6:13572923..13577086-chr6:13614342..13617597,6	K562	blood:
20	chr6:13574510..13576795-chr6:13678124..13681559,3	K562	blood:
21	chr6:13287477..13291631-chr6:13573758..13576939,3	K562	blood:
22	chr6:13572897..13576165-chr6:13620913..13622919,3	K562	blood:
23	chr18:3623452..3623963-chr6:13575066..13575870,2	Hela-S3	cervix:
24	chr14:94502993..94503582-chr6:13575541..13576079,2	MCF-7	breast:
25	chr6:13274197..13275936-chr6:13573987..13576342,2	K562	blood:
26	chr6:13485388..13489511-chr6:13572660..13577514,13	MCF-7	breast:
27	chr6:13572865..13577994-chr6:13612366..13619020,17	K562	blood:
28	chr6:13327393..13331113-chr6:13573725..13577168,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000252966	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000187461	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000185442	Chromatin interaction
ENSG00000145979	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000272379	Chromatin interaction
ENSG00000268059	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000128886	Chromatin interaction
ENSG00000237786	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	0.93[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	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804911	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804914	0.93[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	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804919	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804920	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2804922	0.89[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	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2804927	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841505	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841506	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841507	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841508	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841509	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2841511	0.91[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
rs2804926	SIRT5	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13573400-13575800	Active TSS	A549	lung
2	chr6:13573800-13575800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr6:13573800-13575800	Active TSS	Brain Germinal Matrix	brain
4	chr6:13574000-13575800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:13574000-13575800	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:13574000-13575800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:13574000-13575800	Active TSS	Muscle Satellite Cultured Cells	--
8	chr6:13574000-13575800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:13574000-13575800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr6:13574000-13575800	Active TSS	Fetal Brain Female	brain
11	chr6:13574000-13576000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:13574000-13576000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:13574000-13576000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:13574000-13576200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:13574200-13575800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:13574200-13575800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:13574200-13575800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:13574200-13575800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:13574200-13575800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:13574200-13575800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:13574200-13575800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:13574200-13575800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:13574200-13575800	Active TSS	Liver	Liver
24	chr6:13574200-13575800	Active TSS	Brain Cingulate Gyrus	brain
25	chr6:13574200-13575800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr6:13574200-13575800	Active TSS	Fetal Intestine Large	intestine
27	chr6:13574200-13575800	Active TSS	Fetal Kidney	kidney
28	chr6:13574200-13575800	Active TSS	Fetal Stomach	stomach
29	chr6:13574200-13575800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr6:13574200-13575800	Active TSS	Thymus	Thymus
31	chr6:13574200-13575800	Active TSS	HSMM	muscle
32	chr6:13574200-13575800	Active TSS	HSMMtube	muscle
33	chr6:13574200-13575800	Active TSS	HUVEC	blood vessel
34	chr6:13574200-13575800	Active TSS	NHEK	skin
35	chr6:13574200-13575800	Active TSS	Osteobl	bone
36	chr6:13574200-13576000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr6:13574200-13576000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:13574200-13576000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr6:13574200-13576000	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr6:13574200-13576200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr6:13574200-13576400	Active TSS	Brain Hippocampus Middle	brain
42	chr6:13574200-13576400	Active TSS	GM12878-XiMat	blood
43	chr6:13574800-13575800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr6:13575000-13575800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr6:13575000-13575800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:13575000-13576000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr6:13575000-13576200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:13575200-13575800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr6:13575200-13575800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr6:13575200-13575800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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