Variant report

Variant	rs11605193
Chromosome Location	chr11:63982502-63982503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr11:63982431-63982864	MCF10A-Er-Src	breast:	n/a	chr11:63982731-63982741
2	NFATC1	chr11:63982437-63982902	GM12878	blood:	n/a	n/a
3	MAZ	chr11:63982423-63983001	IMR90	lung:	n/a	n/a
4	MEF2A	chr11:63982419-63982953	GM12878	blood:	n/a	n/a
5	RUNX3	chr11:63982493-63982889	GM12878	blood:	n/a	n/a
6	CEBPB	chr11:63982490-63982783	HepG2	liver:	n/a	chr11:63982607-63982618
7	CEBPB	chr11:63982477-63982754	A549	lung:	n/a	chr11:63982607-63982618
8	CEBPB	chr11:63982467-63982791	Hela-S3	cervix:	n/a	chr11:63982607-63982618
9	RUNX3	chr11:63982446-63982851	GM12878	blood:	n/a	n/a
10	RCOR1	chr11:63982399-63983101	IMR90	lung:	n/a	n/a
11	CEBPB	chr11:63982424-63982845	IMR90	lung:	n/a	chr11:63982607-63982618

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63976736..63978264-chr11:63980722..63982824,2	MCF-7	breast:

Variant related genes	Relation type
FERMT3	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1011219	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11231710	0.90[EUR][1000 genomes]
rs11231713	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11231726	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11600628	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11600667	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604083	0.87[EUR][1000 genomes]
rs11605856	0.90[EUR][1000 genomes]
rs11607903	0.90[EUR][1000 genomes]
rs12417635	0.86[EUR][1000 genomes]
rs17773078	0.89[EUR][1000 genomes]
rs2005272	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2096706	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2186572	0.90[EUR][1000 genomes]
rs3862371	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55942618	0.90[EUR][1000 genomes]
rs55970968	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56207008	0.88[EUR][1000 genomes]
rs56311067	0.90[EUR][1000 genomes]
rs57021319	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57831436	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58779949	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs60031276	0.80[ASN][1000 genomes]
rs60394481	0.89[EUR][1000 genomes]
rs7103915	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7109921	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7122408	0.84[EUR][1000 genomes]
rs7123026	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs734762	0.89[EUR][1000 genomes]
rs7941773	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs947939	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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	212 gene(s)	inside rSNPs	diseases
16	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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 target site	212 gene(s)	inside rSNPs	diseases
17	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
18	nsv468595	chr11:63953121-64027888	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
19	nsv555187	chr11:63953121-64027888	Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
20	nsv897667	chr11:63964657-64078380	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
21	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
22	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS 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	164 gene(s)	inside rSNPs	diseases
23	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS 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	164 gene(s)	inside rSNPs	diseases
24	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
25	nsv541061	chr11:63970174-64010995	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
26	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
27	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS 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 target site	140 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63971600-63992800	Weak transcription	Fetal Kidney	kidney
2	chr11:63972000-63990000	Weak transcription	Ovary	ovary
3	chr11:63973200-63987800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:63973400-63983000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:63973600-63993000	Weak transcription	Aorta	Aorta
6	chr11:63973800-63982600	Weak transcription	Hela-S3	cervix
7	chr11:63974000-63986400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:63974400-63986200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:63974800-63987600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:63975000-63986000	Weak transcription	NHEK	skin
11	chr11:63975000-63986200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:63975000-63988400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:63975200-63992600	Weak transcription	Brain Angular Gyrus	brain
14	chr11:63975400-63982600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:63975400-63985200	Weak transcription	Pancreas	Pancrea
16	chr11:63975400-63986400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:63975400-63990200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:63975600-63987000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:63975600-63992400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:63975600-63992600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:63975600-63992600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:63975600-63992800	Weak transcription	Fetal Lung	lung
23	chr11:63975800-63988000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:63975800-63990200	Weak transcription	Psoas Muscle	Psoas
25	chr11:63975800-63990400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:63975800-63992400	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:63975800-63992600	Weak transcription	Left Ventricle	heart
28	chr11:63975800-63992600	Weak transcription	Osteobl	bone
29	chr11:63975800-63993000	Weak transcription	Small Intestine	intestine
30	chr11:63976200-63983400	Weak transcription	NH-A	brain
31	chr11:63976200-63987200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:63976200-63992400	Strong transcription	Fetal Intestine Small	intestine
33	chr11:63976400-63982800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:63976400-63986000	Weak transcription	Stomach Mucosa	stomach
35	chr11:63976400-63987600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:63976400-63992800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:63976600-63983000	Strong transcription	Dnd41	blood
38	chr11:63976600-63986200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:63976600-63986400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:63976600-63987400	Weak transcription	Adipose Nuclei	Adipose
41	chr11:63976600-63992600	Weak transcription	HUVEC	blood vessel
42	chr11:63976800-63987000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:63976800-63992800	Weak transcription	Brain Substantia Nigra	brain
44	chr11:63977000-63986200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:63977000-63986400	Weak transcription	Brain Germinal Matrix	brain
46	chr11:63977200-63991600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr11:63977400-63991800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr11:63977400-63992000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:63977400-63992000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:63977400-63992200	Strong transcription	Fetal Thymus	thymus

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