Variant report

Variant	rs60084486
Chromosome Location	chr11:66362606-66362607
allele	A/G
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:12)
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	EP300	chr11:66362587-66363027	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66233374..66235223-chr11:66362596..66364170,2	MCF-7	breast:
2	chr11:66316673..66319908-chr11:66361942..66364639,3	K562	blood:
3	chr11:66358389..66364594-chr11:66381544..66387255,17	MCF-7	breast:
4	chr11:66358904..66365230-chr11:66381918..66386995,13	MCF-7	breast:
5	chr11:66358667..66365231-chr11:66403397..66409781,9	K562	blood:
6	chr11:66362395..66364354-chr11:66370212..66372742,2	MCF-7	breast:
7	chr11:66360734..66364580-chr11:66368011..66371374,4	K562	blood:
8	chr11:66361162..66363197-chr11:66365245..66367586,3	K562	blood:
9	chr11:66361065..66362739-chr11:66406248..66408531,2	MCF-7	breast:
10	chr11:66358617..66363403-chr11:66366526..66370072,6	MCF-7	breast:
11	chr11:66356377..66365681-chr11:66380910..66388291,23	K562	blood:
12	chr11:66358934..66362689-chr11:66443837..66446822,4	MCF-7	breast:

No data

Variant related genes	Relation type
CCS	TF binding region
CCDC87	TF binding region
ENSG00000199325	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000174516	Chromatin interaction
ENSG00000173992	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000173933	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13897	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17147749	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2290463	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs45625436	1.00[AFR][1000 genomes]
rs477335	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs478807	0.82[ASN][1000 genomes]
rs479261	1.00[AFR][1000 genomes]
rs527550	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs563344	0.89[ASN][1000 genomes]
rs56680801	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs573673	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs575797	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs623022	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs639938	0.81[ASN][1000 genomes]
rs645307	1.00[AFR][1000 genomes]
rs648491	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66359800-66363400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:66361200-66362800	Weak transcription	Aorta	Aorta
3	chr11:66361200-66363400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr11:66361200-66363400	Enhancers	Spleen	Spleen
5	chr11:66361200-66363600	Enhancers	Esophagus	oesophagus
6	chr11:66361200-66363600	Enhancers	Fetal Heart	heart
7	chr11:66361200-66366600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:66361400-66362800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr11:66361400-66362800	Weak transcription	Small Intestine	intestine
10	chr11:66361400-66363000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr11:66361400-66363200	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:66361400-66363200	Enhancers	Fetal Muscle Leg	muscle
13	chr11:66361400-66363200	Enhancers	Lung	lung
14	chr11:66361400-66363400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr11:66361400-66363400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:66361400-66363400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:66361400-66363400	Enhancers	Fetal Brain Male	brain
18	chr11:66361400-66363600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr11:66361400-66363600	Enhancers	Primary hematopoietic stem cells	blood
20	chr11:66361400-66363600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:66361400-66363600	Enhancers	Brain Germinal Matrix	brain
22	chr11:66361400-66363600	Enhancers	Pancreas	Pancrea
23	chr11:66361400-66363800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr11:66361400-66363800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:66361400-66363800	Enhancers	Fetal Thymus	thymus
26	chr11:66361400-66364400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:66361400-66364400	Enhancers	Placenta	Placenta
28	chr11:66361400-66366200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:66361400-66366200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:66361400-66366200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:66361400-66366400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:66361400-66366600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:66361400-66366800	Weak transcription	HSMMtube	muscle
34	chr11:66361400-66367000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:66361400-66369600	Weak transcription	HMEC	breast
36	chr11:66361400-66369800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:66361400-66371800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:66361400-66382800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:66361400-66383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:66361600-66362800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:66361600-66362800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:66361600-66363000	Enhancers	Primary B cells from cord blood	blood
43	chr11:66361600-66363000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr11:66361600-66363000	Weak transcription	Gastric	stomach
45	chr11:66361600-66363200	Enhancers	Adipose Nuclei	Adipose
46	chr11:66361600-66363200	Enhancers	Brain Angular Gyrus	brain
47	chr11:66361600-66363200	Weak transcription	Right Ventricle	heart
48	chr11:66361600-66363200	Enhancers	Dnd41	blood
49	chr11:66361600-66363400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:66361600-66363400	Enhancers	Primary T cells from cord blood	blood

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