Variant report

Variant	rs11231757
Chromosome Location	chr11:64106317-64106318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr11:64106272-64106449	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64006889..64009385-chr11:64105672..64108941,3	K562	blood:
2	chr11:64105286..64107200-chr11:64107652..64110098,2	MCF-7	breast:
3	chr11:63951267..63954594-chr11:64105049..64110612,5	MCF-7	breast:
4	chr11:64094386..64097437-chr11:64105553..64107544,3	K562	blood:
5	chr11:64034810..64036512-chr11:64105222..64107268,2	K562	blood:
6	chr11:64068655..64075946-chr11:64105786..64111623,11	K562	blood:
7	chr11:64106209..64107766-chr11:64119904..64122675,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC88B	TF binding region
ENSG00000173153	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000236935	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000168071	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs11601860	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1199045	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1199046	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1783521	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2510066	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs479552	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs479777	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs499425	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510372	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs516124	0.84[AMR][1000 genomes]
rs538147	0.82[AMR][1000 genomes]
rs566128	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs574087	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs574835	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61886886	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627425	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs646153	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs647152	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs663743	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs694739	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs887314	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
10	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
11	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
12	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
13	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
14	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
15	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv555192	chr11:64097233-64111928	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	n/a
18	nsv818840	chr11:64097233-64125142	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
19	nsv818841	chr11:64097233-64129722	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11231757	CCDC88B	Cis_1M	lymphoblastoid	RTeQTL
rs11231757	CCDC88B	cis	Esophagus Muscularis	GTEx
rs11231757	AP003774.1	cis	Whole Blood	GTEx
rs11231757	CCDC88B	cis	Esophagus Mucosa	GTEx
rs11231757	CCDC88B	cis	multi-tissue	Pritchard

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64087000-64108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:64089400-64106800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:64091600-64106400	Weak transcription	Primary T cells from cord blood	blood
4	chr11:64099600-64107600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:64099800-64106400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:64099800-64106400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr11:64099800-64106400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:64099800-64106400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:64099800-64106800	Weak transcription	Thymus	Thymus
10	chr11:64099800-64107600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:64099800-64108000	Weak transcription	Brain Anterior Caudate	brain
12	chr11:64099800-64108000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:64099800-64108200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:64099800-64108400	Weak transcription	Left Ventricle	heart
15	chr11:64099800-64109600	Weak transcription	Liver	Liver
16	chr11:64100000-64106400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:64100000-64106400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:64100000-64106600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:64100000-64107000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:64100000-64109000	Weak transcription	Pancreas	Pancrea
21	chr11:64100200-64106400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:64100200-64107000	Weak transcription	Esophagus	oesophagus
23	chr11:64100200-64108000	Weak transcription	Lung	lung
24	chr11:64100200-64108200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:64102400-64107200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr11:64102800-64107000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:64103000-64106400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:64103000-64106800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:64103000-64107000	Weak transcription	Gastric	stomach
30	chr11:64103000-64107200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:64103000-64107400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:64103000-64107800	Weak transcription	Right Ventricle	heart
33	chr11:64103000-64108600	Weak transcription	A549	lung
34	chr11:64103000-64109600	Weak transcription	Right Atrium	heart
35	chr11:64103200-64106600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:64103200-64106800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:64103200-64107200	Weak transcription	Spleen	Spleen
38	chr11:64103400-64106600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:64103400-64107400	Weak transcription	Placenta	Placenta
40	chr11:64103400-64109600	Weak transcription	NH-A	brain
41	chr11:64103800-64109400	Weak transcription	NHEK	skin
42	chr11:64104000-64107400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:64104000-64108800	Weak transcription	HMEC	breast
44	chr11:64104200-64106800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:64104200-64106800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:64104200-64108600	Weak transcription	Stomach Mucosa	stomach
47	chr11:64104800-64107400	Enhancers	Hela-S3	cervix
48	chr11:64105000-64106600	Genic enhancers	Primary B cells from peripheral blood	blood
49	chr11:64105400-64106600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:64105800-64106400	Enhancers	GM12878-XiMat	blood

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