Variant report

Variant	rs2804917
Chromosome Location	chr6:13584201-13584202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13582374..13584520-chr6:13608050..13610038,2	K562	blood:
2	chr6:13485825..13488194-chr6:13582930..13585953,3	K562	blood:
3	chr6:13573811..13577599-chr6:13582641..13586987,4	K562	blood:

Variant related genes	Relation type
ENSG00000124523	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000187461	Chromatin interaction
ENSG00000237786	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11753306	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2328676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2804911	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2804914	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2804916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2804919	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2804920	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804922	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2804924	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804925	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[ASN][1000 genomes]
rs2804926	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804927	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2841505	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2841506	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2841507	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2841508	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2841509	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2841511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4712037	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2804917	SIRT5	cis	Thyroid	GTEx
rs2804917	SIRT5	cis	parietal	SCAN
rs2804917	SIRT5	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13575600-13584400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:13575600-13584400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:13575600-13584400	Weak transcription	Brain Anterior Caudate	brain
4	chr6:13575600-13584400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:13575600-13586800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:13575600-13586800	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:13575600-13586800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:13575600-13587000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:13575600-13587000	Weak transcription	Colonic Mucosa	Colon
10	chr6:13575600-13587000	Weak transcription	Esophagus	oesophagus
11	chr6:13575600-13587000	Weak transcription	NHLF	lung
12	chr6:13575600-13587200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:13575600-13587200	Weak transcription	Gastric	stomach
14	chr6:13575600-13587200	Weak transcription	Pancreas	Pancrea
15	chr6:13575600-13587600	Weak transcription	NHDF-Ad	bronchial
16	chr6:13575600-13587800	Weak transcription	Fetal Lung	lung
17	chr6:13575600-13588200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:13575600-13588400	Weak transcription	Fetal Brain Male	brain
19	chr6:13575600-13608200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:13575600-13613800	Weak transcription	Stomach Mucosa	stomach
21	chr6:13575600-13614400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:13575800-13584400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:13575800-13584600	Weak transcription	Thymus	Thymus
24	chr6:13575800-13584600	Weak transcription	Osteobl	bone
25	chr6:13575800-13584800	Weak transcription	Fetal Thymus	thymus
26	chr6:13575800-13586800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:13575800-13587000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:13575800-13587000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:13575800-13587000	Weak transcription	Fetal Brain Female	brain
30	chr6:13575800-13587200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:13575800-13587200	Weak transcription	HSMMtube	muscle
32	chr6:13575800-13597000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:13575800-13600000	Weak transcription	A549	lung
34	chr6:13575800-13614200	Weak transcription	HUVEC	blood vessel
35	chr6:13575800-13614600	Weak transcription	Right Atrium	heart
36	chr6:13576000-13584400	Weak transcription	Brain Substantia Nigra	brain
37	chr6:13576200-13584400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:13576200-13584400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:13576200-13584600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:13576200-13586800	Weak transcription	Brain Germinal Matrix	brain
41	chr6:13576200-13587000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:13576200-13587400	Weak transcription	NHEK	skin
43	chr6:13576200-13587800	Weak transcription	Small Intestine	intestine
44	chr6:13576200-13588000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr6:13576200-13590800	Weak transcription	Dnd41	blood
46	chr6:13576200-13596600	Weak transcription	HMEC	breast
47	chr6:13576200-13614400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr6:13576400-13584400	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:13576400-13587000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr6:13576400-13587000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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