Variant report

Variant	rs693824
Chromosome Location	chr11:65654783-65654784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65654632-65669034	U87	brain:	n/a	n/a
2	MAZ	chr11:65654781-65660027	IMR90	lung:	n/a	chr11:65658152-65658161 chr11:65658196-65658205 chr11:65655739-65655749
3	MXI1	chr11:65654752-65659161	SK-N-SH	brain:	n/a	n/a
4	HCFC1	chr11:65654755-65656809	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:65654636-65654812	HepG2	liver:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65651325..65654107-chr11:65654178..65656416,6	MCF-7	breast:
2	chr11:65650800..65661192-chr11:65726307..65736419,31	MCF-7	breast:
3	chr11:65652640..65657924-chr11:65769844..65772901,4	MCF-7	breast:
4	chr11:65428955..65432251-chr11:65654758..65658672,5	K562	blood:
5	chr11:65381281..65383865-chr11:65653428..65656647,3	MCF-7	breast:
6	chr11:65654573..65660022-chr11:65726606..65732418,16	MCF-7	breast:
7	chr11:65653872..65655439-chr11:65819270..65821819,2	K562	blood:
8	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
9	chr11:65654594..65656480-chr11:65848880..65851795,2	K562	blood:
10	chr11:65478611..65480184-chr11:65654546..65656636,2	MCF-7	breast:
11	chr11:65343312..65345815-chr11:65654213..65655812,2	MCF-7	breast:
12	chr11:65478350..65482284-chr11:65653854..65660529,8	K562	blood:
13	chr11:65429800..65432139-chr11:65653071..65655699,2	MCF-7	breast:
14	chr11:65485673..65489789-chr11:65654054..65658887,6	K562	blood:
15	chr11:65477188..65481209-chr11:65654091..65661409,11	K562	blood:
16	chr11:65478149..65481961-chr11:65654535..65657747,6	MCF-7	breast:
17	chr11:65654406..65656554-chr11:65818022..65819720,2	MCF-7	breast:

No data

Variant related genes	Relation type
FIBP	TF binding region
CCDC85B	TF binding region
ENSG00000175115	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172500	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10791830	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151519	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204650	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12225345	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2231884	0.85[EUR][1000 genomes]
rs507062	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs568617	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583887	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585557	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58568715	0.83[EUR][1000 genomes]
rs588114	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs596002	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs601863	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608616	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs622614	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs625652	0.85[AFR][1000 genomes]
rs641018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645900	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656980	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs658524	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658938	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677931	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687672	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs694994	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong 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	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
12	nsv530622	chr11:65649068-65661361	Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs693824	CTSW	Cis_1M	lymphoblastoid	RTeQTL
rs693824	CTSW	cis	Artery Aorta	GTEx
rs693824	SNX32	cis	Artery Tibial	GTEx
rs693824	CTSW	cis	Artery Tibial	GTEx
rs693824	SNX32	cis	Artery Aorta	GTEx
rs693824	SNX32	cis	Esophagus Mucosa	GTEx
rs693824	FIBP	cis	multi-tissue	Pritchard
rs693824	CTSW	cis	lung	GTEx
rs693824	CTSW	cis	Stomach	GTEx
rs693824	CTSW	cis	Esophagus Muscularis	GTEx
rs693824	CTSW	cis	Esophagus Mucosa	GTEx
rs693824	CTSW	cis	Nerve Tibial	GTEx
rs693824	FIBP	Cis_1M	lymphoblastoid	RTeQTL
rs693824	SNX32	cis	Esophagus Muscularis	GTEx
rs693824	SNX32	cis	Thyroid	GTEx
rs693824	CTSW	cis	Thyroid	GTEx
rs693824	SNX32	cis	Nerve Tibial	GTEx
rs693824	CTSW	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65641600-65655000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65641600-65655000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65641600-65655000	Weak transcription	Right Atrium	heart
4	chr11:65649000-65655000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:65649000-65655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:65649600-65654800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:65650000-65654800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr11:65650000-65654800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:65650200-65655000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:65651600-65655000	Genic enhancers	Dnd41	blood
11	chr11:65651800-65654800	Genic enhancers	NHLF	lung
12	chr11:65651800-65655000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:65651800-65655200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:65652000-65655000	Genic enhancers	Fetal Intestine Small	intestine
15	chr11:65652000-65655200	Weak transcription	Aorta	Aorta
16	chr11:65652400-65654800	Genic enhancers	HepG2	liver
17	chr11:65652400-65655000	Genic enhancers	Duodenum Mucosa	Duodenum
18	chr11:65652600-65654800	Strong transcription	Brain Cingulate Gyrus	brain
19	chr11:65652600-65654800	Strong transcription	Fetal Stomach	stomach
20	chr11:65652600-65654800	Genic enhancers	Stomach Smooth Muscle	stomach
21	chr11:65652600-65655000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:65652800-65655000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:65652800-65655000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:65652800-65655000	Strong transcription	Fetal Thymus	thymus
25	chr11:65652800-65655000	Weak transcription	Pancreas	Pancrea
26	chr11:65653400-65655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:65653400-65655000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:65653800-65654800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:65653800-65654800	Genic enhancers	NHDF-Ad	bronchial
30	chr11:65653800-65655000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:65653800-65655000	Genic enhancers	Brain Angular Gyrus	brain
32	chr11:65653800-65655000	Genic enhancers	NHEK	skin
33	chr11:65653800-65655200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:65653800-65655200	Weak transcription	Psoas Muscle	Psoas
35	chr11:65654000-65654800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:65654000-65654800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:65654000-65654800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:65654000-65654800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:65654000-65654800	Genic enhancers	Monocytes-CD14+_RO01746	blood
40	chr11:65654000-65655000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:65654000-65655000	Genic enhancers	Brain Hippocampus Middle	brain
42	chr11:65654000-65655000	Enhancers	Fetal Brain Male	brain
43	chr11:65654000-65655000	Enhancers	Fetal Intestine Large	intestine
44	chr11:65654000-65655000	Enhancers	NH-A	brain
45	chr11:65654000-65655400	Weak transcription	Ovary	ovary
46	chr11:65654000-65655400	Enhancers	Small Intestine	intestine
47	chr11:65654200-65654800	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr11:65654200-65654800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:65654200-65655000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:65654200-65655000	Enhancers	Primary hematopoietic stem cells	blood

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