Variant report

Variant	rs11759518
Chromosome Location	chr6:13700419-13700420
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	chr6:13678820..13680867-chr6:13700204..13702164,2	K562	blood:
2	chr6:13700037..13701941-chr6:13706624..13709123,3	MCF-7	breast:
3	chr6:13694062..13696110-chr6:13700169..13702191,2	MCF-7	breast:
4	chr6:13691833..13693918-chr6:13700022..13701618,2	MCF-7	breast:
5	chr6:13700159..13702391-chr6:13702424..13706464,3	MCF-7	breast:
6	chr6:13698656..13702335-chr6:13709706..13713739,5	MCF-7	breast:
7	chr6:13682880..13685612-chr6:13699507..13701287,2	K562	blood:
8	chr6:13681970..13683926-chr6:13700393..13702087,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000010017	Chromatin interaction
ENSG00000252966	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10484251	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10948811	0.84[CHB][hapmap]
rs11753232	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11755634	0.84[CHB][hapmap]
rs1573702	0.84[CHB][hapmap]
rs17213683	0.91[CHB][hapmap]
rs2071836	0.84[CHB][hapmap]
rs2253217	0.86[CEU][hapmap]
rs2299026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299027	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3752501	0.95[ASN][1000 genomes]
rs3757256	0.81[ASN][1000 genomes]
rs3846912	0.84[CHB][hapmap]
rs3906327	0.84[CHB][hapmap]
rs4715512	1.00[CHB][hapmap];0.93[GIH][hapmap];0.81[ASN][1000 genomes]
rs6459020	0.84[CHB][hapmap]
rs6911121	0.84[CHB][hapmap]
rs6935036	0.81[ASN][1000 genomes]
rs72831050	0.81[ASN][1000 genomes]
rs7744218	0.84[CHB][hapmap]
rs9475276	1.00[CHB][hapmap]

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
rs11759518	SIRT5	cis	cerebellum	SCAN
rs11759518	RANBP9	cis	cerebellum	SCAN
rs11759518	SIRT5	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13670000-13701600	Weak transcription	Esophagus	oesophagus
2	chr6:13679000-13708400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:13679600-13703400	Weak transcription	HUVEC	blood vessel
4	chr6:13681000-13708600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:13686400-13709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:13688200-13703200	Weak transcription	Lung	lung
7	chr6:13688800-13703200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:13689200-13703200	Weak transcription	Spleen	Spleen
9	chr6:13689800-13702400	Weak transcription	Fetal Stomach	stomach
10	chr6:13690400-13707600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:13690600-13707600	Weak transcription	Fetal Kidney	kidney
12	chr6:13690600-13708400	Weak transcription	Aorta	Aorta
13	chr6:13690800-13703200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:13690800-13703600	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:13691200-13703200	Weak transcription	Brain Anterior Caudate	brain
16	chr6:13691200-13708000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:13692000-13707600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:13692200-13708400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:13692400-13703200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:13692800-13708400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:13693200-13702200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:13693800-13703200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:13694000-13703200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:13694000-13706800	Weak transcription	Fetal Intestine Small	intestine
25	chr6:13694400-13702000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr6:13694400-13702200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr6:13694600-13706400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr6:13695000-13708000	Weak transcription	Hela-S3	cervix
29	chr6:13695000-13708200	Weak transcription	Fetal Brain Female	brain
30	chr6:13695200-13702600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:13695200-13703200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:13695600-13701800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:13696200-13702400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr6:13696200-13708200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:13696200-13708200	Weak transcription	Brain Substantia Nigra	brain
36	chr6:13696200-13708200	Weak transcription	Fetal Brain Male	brain
37	chr6:13696200-13708200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:13696400-13708000	Weak transcription	Fetal Lung	lung
39	chr6:13696600-13703200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:13696600-13708400	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:13697200-13705800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:13697200-13708000	Weak transcription	Brain Germinal Matrix	brain
43	chr6:13697200-13708000	Weak transcription	Fetal Intestine Large	intestine
44	chr6:13697200-13708400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:13697200-13708400	Weak transcription	NH-A	brain
46	chr6:13697400-13703200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:13697800-13704400	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:13698200-13703000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr6:13698200-13708000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:13698400-13700800	Enhancers	Psoas Muscle	Psoas

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