Variant report

Variant	rs11231713
Chromosome Location	chr11:63931849-63931850
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63930168..63934783-chr11:64013330..64015860,5	MCF-7	breast:
2	chr11:63930981..63933673-chr11:63971506..63975446,4	K562	blood:
3	chr11:63752685..63755031-chr11:63931416..63935122,4	MCF-7	breast:
4	chr11:63929801..63939249-chr11:63945151..63958671,77	MCF-7	breast:
5	chr11:63930294..63933102-chr11:64007754..64009843,2	K562	blood:
6	chr11:63929784..63936274-chr11:63944807..63955078,25	K562	blood:
7	chr11:63752447..63754904-chr11:63931048..63933995,2	MCF-7	breast:
8	chr11:63465508..63467258-chr11:63931341..63933429,2	MCF-7	breast:
9	chr11:63930758..63935103-chr11:64018023..64022943,7	MCF-7	breast:
10	chr11:63804357..63806180-chr11:63931418..63933035,2	K562	blood:
11	chr11:63838450..63841271-chr11:63931645..63933162,2	K562	blood:
12	chr11:63931311..63936745-chr11:63945647..63958123,49	MCF-7	breast:
13	chr11:63437518..63440264-chr11:63931610..63934606,2	MCF-7	breast:
14	chr11:63856543..63858986-chr11:63931216..63932761,2	K562	blood:
15	chr11:63929784..63936174-chr11:63947045..63954638,30	K562	blood:
16	chr11:63682343..63688338-chr11:63931257..63935493,5	K562	blood:
17	chr11:63931721..63935529-chr11:64007238..64009855,5	MCF-7	breast:
18	chr11:63886159..63888775-chr11:63931578..63933986,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184743	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000256341	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000149782	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000271100	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000167770	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1011219	0.81[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11231710	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11231726	0.82[CHD][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11600628	0.90[EUR][1000 genomes]
rs11600667	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11604083	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11605193	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11605856	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11607903	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12417635	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12419038	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs17773078	0.80[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2005272	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096706	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186572	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3862371	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55942618	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55970968	0.90[EUR][1000 genomes]
rs56207008	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56311067	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57021319	0.90[EUR][1000 genomes]
rs60394481	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61083753	0.83[EUR][1000 genomes]
rs646384	1.00[ASW][hapmap];0.82[CEU][hapmap];0.91[GIH][hapmap];0.80[TSI][hapmap]
rs660070	1.00[ASW][hapmap]
rs7103915	0.82[CHD][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7109921	0.90[EUR][1000 genomes]
rs7122408	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7123026	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs734762	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7941773	0.89[EUR][1000 genomes]
rs876064	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[JPT][hapmap]
rs915987	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[JPT][hapmap]
rs947939	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
6	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	esv1801661	chr11:63894054-63937949	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a
12	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
13	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
14	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
15	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
16	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs11231713	NUDT22	Cis_1M	lymphoblastoid	RTeQTL
rs11231713	RAB1B	cis	cerebellum	SCAN
rs11231713	CCDC88B	cis	cerebellum	SCAN
rs11231713	CCS	cis	cerebellum	SCAN
rs11231713	RBM14	cis	cerebellum	SCAN
rs11231713	ANKRD13D	cis	cerebellum	SCAN
rs11231713	CCDC88B	cis	lymphoblastoid	seeQTL
rs11231713	FKBP2	cis	parietal	SCAN
rs11231713	FKBP2	cis	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63911600-63932600	Weak transcription	Primary T cells from cord blood	blood
2	chr11:63916200-63932000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:63916400-63932000	Weak transcription	Stomach Mucosa	stomach
4	chr11:63916600-63932200	Weak transcription	Fetal Intestine Large	intestine
5	chr11:63918200-63932200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:63919000-63932000	Weak transcription	Adipose Nuclei	Adipose
7	chr11:63920600-63932200	Weak transcription	Brain Substantia Nigra	brain
8	chr11:63920600-63932200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:63920600-63932400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:63920600-63932400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:63920800-63932000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:63921000-63932000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:63921000-63932200	Weak transcription	Small Intestine	intestine
14	chr11:63921000-63932400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:63921000-63932400	Weak transcription	A549	lung
16	chr11:63921400-63932200	Weak transcription	Esophagus	oesophagus
17	chr11:63921800-63932000	Weak transcription	Ovary	ovary
18	chr11:63921800-63932200	Weak transcription	K562	blood
19	chr11:63922000-63932200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:63922000-63932200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:63922200-63932200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:63924200-63932000	Weak transcription	HSMMtube	muscle
23	chr11:63924400-63932200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:63924400-63932200	Weak transcription	Fetal Stomach	stomach
25	chr11:63924400-63932400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:63924800-63932200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:63925000-63932800	Weak transcription	Thymus	Thymus
28	chr11:63925600-63932200	Weak transcription	Fetal Heart	heart
29	chr11:63925800-63932400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:63927400-63932200	Weak transcription	Fetal Lung	lung
31	chr11:63927800-63932200	Weak transcription	Fetal Intestine Small	intestine
32	chr11:63929000-63932200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:63929000-63932200	Weak transcription	NHEK	skin
34	chr11:63929000-63932600	Weak transcription	Aorta	Aorta
35	chr11:63929200-63932600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:63929400-63932200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:63930000-63932200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:63930800-63933000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr11:63930800-63933200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:63931000-63933000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr11:63931200-63932000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:63931200-63932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:63931200-63932200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:63931200-63932200	Enhancers	HepG2	liver
45	chr11:63931400-63932000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr11:63931400-63932000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:63931400-63932200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:63931400-63932400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:63931400-63932400	Enhancers	Left Ventricle	heart
50	chr11:63931600-63932000	Enhancers	Dnd41	blood

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