Variant report

Variant	rs11753232
Chromosome Location	chr6:13649762-13649763
allele	C/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: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	chr6:13648183..13650559-chr6:13651463..13653751,2	MCF-7	breast:
2	chr6:13649508..13651998-chr6:13682343..13685063,2	K562	blood:
3	chr6:13649360..13652106-chr6:13653582..13655129,2	K562	blood:
4	chr6:13614145..13615918-chr6:13648363..13650300,2	K562	blood:
5	chr6:13641445..13646183-chr6:13647166..13651436,6	K562	blood:
6	chr6:13636739..13638994-chr6:13648815..13651482,2	K562	blood:
7	chr6:13649255..13650817-chr6:13651728..13653387,2	K562	blood:
8	chr6:13633178..13635073-chr6:13648017..13650938,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10484251	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10948811	0.84[CHB][hapmap]
rs11755634	0.84[CHB][hapmap]
rs11759518	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]
rs1573702	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs17213683	0.91[CHB][hapmap]
rs2071836	0.84[CHB][hapmap]
rs2253217	0.91[CEU][hapmap]
rs2299026	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299027	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804921	0.82[CEU][hapmap]
rs3752501	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3757256	0.81[ASN][1000 genomes]
rs3846912	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs3906327	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs4715512	1.00[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs6459020	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs6459025	0.82[CHD][hapmap]
rs6911121	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs6935036	0.81[ASN][1000 genomes]
rs72831050	0.81[ASN][1000 genomes]
rs7744218	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs9475276	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1016744	chr6:13622143-13664028	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1019422	chr6:13622143-13694781	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1026597	chr6:13634669-13689882	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11753232	SIRT5	cis	parietal	SCAN
rs11753232	SIRT5	cis	cerebellum	SCAN
rs11753232	RANBP9	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13618200-13661200	Weak transcription	Fetal Brain Male	brain
2	chr6:13620400-13660400	Weak transcription	Pancreas	Pancrea
3	chr6:13620600-13691000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:13623600-13656200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:13625400-13660400	Weak transcription	Gastric	stomach
6	chr6:13626000-13660400	Weak transcription	Lung	lung
7	chr6:13626600-13667800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:13626800-13669000	Weak transcription	Brain Anterior Caudate	brain
9	chr6:13632000-13660400	Weak transcription	Psoas Muscle	Psoas
10	chr6:13632600-13656000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:13632800-13653800	Weak transcription	Hela-S3	cervix
12	chr6:13636800-13652800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:13637200-13650600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:13637400-13660400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:13637800-13652400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:13638000-13661400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:13638800-13655000	Weak transcription	Fetal Kidney	kidney
18	chr6:13638800-13657000	Weak transcription	Fetal Heart	heart
19	chr6:13638800-13657800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:13638800-13657800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:13638800-13659400	Weak transcription	Brain Angular Gyrus	brain
22	chr6:13639000-13652000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:13639000-13654800	Weak transcription	NHLF	lung
24	chr6:13639000-13660400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:13639000-13660600	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:13639200-13651000	Weak transcription	Left Ventricle	heart
27	chr6:13639200-13658200	Weak transcription	Colonic Mucosa	Colon
28	chr6:13639200-13660400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:13639200-13662600	Weak transcription	Esophagus	oesophagus
30	chr6:13639400-13650600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:13639400-13650600	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:13639400-13650800	Weak transcription	HSMMtube	muscle
33	chr6:13639400-13660400	Weak transcription	Ovary	ovary
34	chr6:13639400-13660600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:13639400-13662000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:13639400-13666000	Weak transcription	Fetal Brain Female	brain
37	chr6:13639400-13667200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:13639600-13650600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:13639600-13662600	Weak transcription	Aorta	Aorta
40	chr6:13639800-13660400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:13639800-13669800	Weak transcription	Fetal Intestine Small	intestine
42	chr6:13640000-13650600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:13640000-13650600	Weak transcription	Thymus	Thymus
44	chr6:13640000-13650800	Weak transcription	Fetal Stomach	stomach
45	chr6:13640000-13656800	Weak transcription	Small Intestine	intestine
46	chr6:13640000-13660200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:13640000-13662600	Weak transcription	NHEK	skin
48	chr6:13640400-13653800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:13640400-13662800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:13641000-13652200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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