Variant report

Variant	rs535520
Chromosome Location	chr11:75157181-75157182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:75156357-75157288	IMR90	lung:	n/a	n/a
2	RAD21	chr11:75156140-75157249	SK-N-SH	brain:	n/a	chr11:75156541-75156560

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75155119..75158447-chr11:75161089..75163819,3	MCF-7	breast:
2	chr11:75148115..75151713-chr11:75153715..75157697,3	MCF-7	breast:
3	chr11:75133120..75135627-chr11:75156847..75159268,2	K562	blood:
4	chr11:75150672..75153470-chr11:75157167..75159123,2	K562	blood:
5	chr11:75155406..75158188-chr11:75239251..75241040,2	MCF-7	breast:
6	chr11:75156709..75158451-chr11:75242252..75245079,2	K562	blood:
7	chr11:75157046..75159946-chr11:75245100..75246665,2	K562	blood:
8	chr11:75156609..75158880-chr11:75228671..75231631,2	MCF-7	breast:
9	chr11:75157046..75158585-chr11:75245165..75247404,2	K562	blood:
10	chr11:75132815..75134620-chr11:75156705..75159268,2	K562	blood:
11	chr11:75154122..75156183-chr11:75156400..75158259,2	MCF-7	breast:
12	chr11:75155749..75157595-chr11:75246033..75248841,2	MCF-7	breast:
13	chr11:75147262..75148920-chr11:75157020..75159435,2	K562	blood:
14	chr11:75156105..75157243-chr11:75242637..75244080,12	MCF-7	breast:
15	chr11:75155972..75157916-chr11:75241757..75244067,16	K562	blood:
16	chr11:75156553..75158071-chr11:75242156..75244812,2	MCF-7	breast:

No data

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10751243	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1557474	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1623440	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1631865	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1790145	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1790149	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1790153	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1790154	0.87[EUR][1000 genomes]
rs1790155	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1790156	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1790158	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1790160	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1793411	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1793412	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1793415	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1894213	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471857	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473462	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474056	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs482458	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482503	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486326	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs488305	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492309	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs504685	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511190	0.97[AFR][1000 genomes]
rs518611	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523617	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs532454	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs535523	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546632	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs547844	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550957	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs566818	0.95[AFR][1000 genomes]
rs578840	0.91[EUR][1000 genomes]
rs609793	0.83[EUR][1000 genomes]
rs611449	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs623338	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs625938	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs653673	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs668727	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75141800-75165400	Weak transcription	Right Atrium	heart
2	chr11:75142000-75165200	Weak transcription	Ovary	ovary
3	chr11:75144200-75164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:75144200-75165400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:75144200-75186600	Weak transcription	Gastric	stomach
6	chr11:75144400-75179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:75144600-75174000	Weak transcription	Liver	Liver
8	chr11:75145000-75162400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:75145000-75167800	Strong transcription	Placenta	Placenta
10	chr11:75145200-75165200	Weak transcription	A549	lung
11	chr11:75145200-75186200	Weak transcription	Primary T cells from cord blood	blood
12	chr11:75145200-75186400	Strong transcription	Fetal Intestine Small	intestine
13	chr11:75146400-75163200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:75146400-75173000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:75147800-75186000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:75148000-75163800	Weak transcription	Lung	lung
17	chr11:75148200-75186000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:75150400-75172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:75151400-75158800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:75152800-75159400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:75152800-75161600	Weak transcription	Pancreas	Pancrea
22	chr11:75153000-75161200	Weak transcription	Right Ventricle	heart
23	chr11:75153000-75162200	Weak transcription	HepG2	liver
24	chr11:75153000-75162800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr11:75153400-75168000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:75153600-75167200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:75153800-75176600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:75154400-75159000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:75154400-75160200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:75154400-75165400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:75154400-75165400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:75155400-75158800	Weak transcription	Adipose Nuclei	Adipose
33	chr11:75155600-75159000	Weak transcription	HSMMtube	muscle
34	chr11:75156000-75158800	Weak transcription	Spleen	Spleen
35	chr11:75156200-75158800	Weak transcription	Fetal Intestine Large	intestine
36	chr11:75156600-75157200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr11:75156800-75157200	Enhancers	Stomach Smooth Muscle	stomach
38	chr11:75156800-75161200	Weak transcription	Esophagus	oesophagus

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