Variant report

Variant	rs11038965
Chromosome Location	chr11:46691596-46691597
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:166)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:166 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:46691481-46691675	MCF-7	breast:	n/a	n/a
2	CTCF	chr11:46691522-46691676	MCF-7	breast:	n/a	n/a
3	CTCF	chr11:46691495-46691669	GM19238	blood:	n/a	n/a
4	CTCF	chr11:46691500-46691650	HRE	kidney:	n/a	n/a
5	CTCF	chr11:46691475-46691867	K562	blood:	n/a	n/a
6	CTCF	chr11:46691502-46691693	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:46691500-46691650	AoAF	blood vessel:	n/a	n/a
8	CTCF	chr11:46691460-46691610	GM12873	blood:	n/a	n/a
9	SMC3	chr11:46691448-46691708	HepG2	liver:	n/a	n/a
10	CTCF	chr11:46691500-46691650	HA-sp	spinal cord:	n/a	n/a
11	CTCF	chr11:46691460-46691610	HMEC	breast:	n/a	n/a
12	CTCF	chr11:46691500-46691650	HMEC	breast:	n/a	n/a
13	CTCF	chr11:46691500-46691650	GM12873	blood:	n/a	n/a
14	CTCF	chr11:46691513-46691643	GM13977	blood:	n/a	n/a
15	RAD21	chr11:46691412-46691814	HepG2	liver:	n/a	n/a
16	CTCF	chr11:46691500-46691650	HAc	cerebellar:	n/a	n/a
17	CTCF	chr11:46691421-46691777	HepG2	liver:	n/a	n/a
18	CTCF	chr11:46691474-46691692	Gliobla	brain:	n/a	n/a
19	CTCF	chr11:46691460-46691610	GM12864	blood:	n/a	n/a
20	CTCF	chr11:46691520-46691670	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr11:46691467-46691711	HepG2	liver:	n/a	n/a
22	ELF1	chr11:46691401-46691677	K562	blood:	n/a	chr11:46691560-46691573 chr11:46691562-46691573
23	CTCF	chr11:46691460-46691610	NB4	blood:	n/a	n/a
24	CTCF	chr11:46691460-46691610	AG10803	skin:	n/a	n/a
25	CTCF	chr11:46691520-46691670	AG09309	skin:	n/a	n/a
26	CTCF	chr11:46691504-46691637	Lung_OC	lung:	n/a	n/a
27	RAD21	chr11:46691298-46691819	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr11:46691500-46691650	AG04449	skin:	n/a	n/a
29	CTCF	chr11:46691560-46691710	GM12868	blood:	n/a	n/a
30	CTCF	chr11:46691397-46691788	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:46691484-46691679	Medullo	brain:	n/a	n/a
32	CTCF	chr11:46691460-46691610	HRE	kidney:	n/a	n/a
33	RAD21	chr11:46691518-46691623	K562	blood:	n/a	n/a
34	RAD21	chr11:46691445-46691747	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr11:46691316-46691698	K562	blood:	n/a	n/a
36	CTCF	chr11:46691560-46691710	SK-N-SH_RA	brain:	n/a	n/a
37	RAD21	chr11:46691385-46691784	MCF-7	breast:	n/a	n/a
38	RAD21	chr11:46691482-46691827	ECC-1	luminal epithelium:	n/a	n/a
39	CTCF	chr11:46691520-46691670	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr11:46691396-46691744	A549	lung:	n/a	n/a
41	RAD21	chr11:46691353-46691783	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr11:46691520-46691670	GM12866	blood:	n/a	n/a
43	CTCF	chr11:46691480-46691630	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr11:46691520-46691670	GM12878	blood:	n/a	n/a
45	CTCF	chr11:46691526-46691602	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr11:46691560-46691710	BJ	skin:	n/a	n/a
47	CTCF	chr11:46691520-46691670	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr11:46691491-46691676	GM12878	blood:	n/a	n/a
49	CTCF	chr11:46691460-46691610	GM12871	blood:	n/a	n/a
50	CTCF	chr11:46691452-46691698	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46690029..46694256-chr11:46694840..46696988,3	K562	blood:
2	chr11:46689739..46692664-chr11:46704932..46706618,2	K562	blood:
3	chr11:46689858..46691687-chr11:46723273..46724882,2	MCF-7	breast:

No data

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11822837	1.00[MEX][hapmap]
rs12273343	0.86[YRI][hapmap]
rs12280002	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28366017	1.00[MEX][hapmap]
rs3136452	1.00[MEX][hapmap]
rs58638551	1.00[AMR][1000 genomes]
rs60105423	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61752936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7117290	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118357	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs7930857	1.00[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	chr11:46664200-46692600	Strong transcription	Duodenum Mucosa	Duodenum
4	chr11:46664200-46695400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr11:46665800-46695200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:46666000-46695400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:46667000-46691600	Strong transcription	Thymus	Thymus
8	chr11:46667200-46695400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:46667200-46695600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
11	chr11:46667400-46696000	Strong transcription	Fetal Brain Female	brain
12	chr11:46670600-46695600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:46671400-46696000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:46671400-46696000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:46677200-46691600	Strong transcription	Primary B cells from cord blood	blood
16	chr11:46677400-46695800	Strong transcription	Rectal Smooth Muscle	rectum
17	chr11:46678400-46694000	Weak transcription	Stomach Mucosa	stomach
18	chr11:46679400-46695200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:46679400-46695800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:46680000-46692200	Strong transcription	Placenta	Placenta
21	chr11:46680400-46695000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:46681400-46695000	Strong transcription	Liver	Liver
23	chr11:46681800-46695000	Strong transcription	Fetal Intestine Small	intestine
24	chr11:46682000-46691600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:46682000-46695200	Strong transcription	Fetal Intestine Large	intestine
26	chr11:46682800-46695600	Strong transcription	Hela-S3	cervix
27	chr11:46683400-46692200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:46683400-46695200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:46683400-46695400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr11:46683400-46695400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:46683400-46695400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:46683600-46691600	Strong transcription	Colonic Mucosa	Colon
33	chr11:46683600-46693200	Strong transcription	GM12878-XiMat	blood
34	chr11:46683600-46693400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr11:46683600-46695600	Strong transcription	HepG2	liver
36	chr11:46683800-46692200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:46685000-46693000	Strong transcription	Pancreas	Pancrea
38	chr11:46685000-46694000	Strong transcription	Gastric	stomach
39	chr11:46685200-46695400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:46685200-46695600	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr11:46685400-46695400	Strong transcription	NHEK	skin
42	chr11:46685400-46695800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:46685400-46695800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:46686200-46696000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:46686400-46692400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:46686400-46695000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:46686600-46695200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:46686800-46691600	Strong transcription	HMEC	breast
49	chr11:46686800-46695400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:46687000-46695200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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