Variant report

Variant	rs12276664
Chromosome Location	chr11:46694178-46694179
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46693922-46694509	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:46693971-46694277	HepG2	liver:	n/a	n/a
3	MYC	chr11:46694154-46694275	NB4	blood:	n/a	n/a
4	POLR2A	chr11:46693531-46694628	K562	blood:	n/a	n/a
5	POLR2A	chr11:46693979-46694740	HL-60	blood:	n/a	n/a
6	SPI1	chr11:46694019-46694585	HL-60	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46690029..46694256-chr11:46694840..46696988,3	K562	blood:
2	chr11:46693318..46696713-chr11:46720751..46722986,3	MCF-7	breast:
3	chr11:46692927..46695106-chr11:46701903..46703422,2	K562	blood:
4	chr11:46693523..46695360-chr11:46702210..46703940,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATG13	TF binding region
ENSG00000175213	Chromatin interaction
ENSG00000175220	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11038901	0.92[YRI][hapmap]
rs11038916	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs11038934	0.83[AMR][1000 genomes]
rs11038967	0.88[ASW][hapmap];0.93[LWK][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs11819818	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs12278517	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs12278651	0.83[AMR][1000 genomes]
rs12290327	0.92[YRI][hapmap]
rs12292399	0.92[YRI][hapmap]
rs3136452	0.92[MKK][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs3136455	0.92[MKK][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs3136483	0.83[AMR][1000 genomes]
rs7113194	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7952678	0.91[YRI][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46652200-46695600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:46659600-46695200	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr11:46664200-46695400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr11:46665800-46695200	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:46666000-46695400	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:46667200-46695400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:46667200-46695600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
9	chr11:46667400-46696000	Strong transcription	Fetal Brain Female	brain
10	chr11:46670600-46695600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:46671400-46696000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:46671400-46696000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:46677400-46695800	Strong transcription	Rectal Smooth Muscle	rectum
14	chr11:46679400-46695200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:46679400-46695800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:46680400-46695000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:46681400-46695000	Strong transcription	Liver	Liver
18	chr11:46681800-46695000	Strong transcription	Fetal Intestine Small	intestine
19	chr11:46682000-46695200	Strong transcription	Fetal Intestine Large	intestine
20	chr11:46682800-46695600	Strong transcription	Hela-S3	cervix
21	chr11:46683400-46695200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:46683400-46695400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr11:46683400-46695400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:46683400-46695400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:46683600-46695600	Strong transcription	HepG2	liver
26	chr11:46685200-46695400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:46685200-46695600	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr11:46685400-46695400	Strong transcription	NHEK	skin
29	chr11:46685400-46695800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:46685400-46695800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:46686200-46696000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:46686400-46695000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:46686600-46695200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:46686800-46695400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:46687000-46695200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:46687200-46695200	Strong transcription	Lung	lung
37	chr11:46688800-46695600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:46689200-46695000	Strong transcription	Fetal Lung	lung
39	chr11:46689200-46695400	Strong transcription	K562	blood
40	chr11:46689200-46696600	Strong transcription	Fetal Stomach	stomach
41	chr11:46689400-46695400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr11:46689400-46695800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:46689600-46694200	Genic enhancers	Dnd41	blood
44	chr11:46689600-46695200	Strong transcription	Ovary	ovary
45	chr11:46689600-46695600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:46689600-46695800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:46689600-46706200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:46689800-46696000	Strong transcription	Aorta	Aorta
49	chr11:46690000-46695000	Strong transcription	Right Ventricle	heart
50	chr11:46690000-46695400	Strong transcription	Colon Smooth Muscle	Colon

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