Variant report

Variant	rs11038876
Chromosome Location	chr11:46389448-46389449
allele	C/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	MAX	chr11:46389154-46389473	NB4	blood:	n/a	n/a
2	CTCFL	chr11:46389262-46389463	K562	blood:	n/a	chr11:46389319-46389328
3	POLR2A	chr11:46389132-46389699	GM12878	blood:	n/a	n/a
4	SMC3	chr11:46389271-46389487	HepG2	liver:	n/a	chr11:46389325-46389333 chr11:46389319-46389333 chr11:46389319-46389329
5	CTCF	chr11:46389160-46389515	GM19240	blood:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
6	CTCF	chr11:46389169-46389683	Spleen_OC	spleen:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
7	RAD21	chr11:46389199-46389560	A549	lung:	n/a	chr11:46389319-46389329 chr11:46389337-46389351 chr11:46389318-46389331 chr11:46389317-46389329 chr11:46389315-46389334
8	CTCF	chr11:46389190-46389474	GM13977	blood:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
9	CTCF	chr11:46389300-46389450	HUVEC	blood vessel:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
10	CTCF	chr11:46389131-46389655	K562	blood:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
11	SMC3	chr11:46389165-46389511	K562	blood:	n/a	chr11:46389325-46389333 chr11:46389319-46389333 chr11:46389319-46389329
12	CTCF	chr11:46389164-46389539	H1-hESC	embryonic stem cell:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
13	CTCF	chr11:46389187-46389455	HepG2	liver:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
14	TEAD4	chr11:46389197-46389504	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr11:46389131-46389589	MCF-7	breast:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
16	CTCF	chr11:46389156-46389505	NHEK	skin:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
17	CTCF	chr11:46389300-46389450	GM12873	blood:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
18	SMC3	chr11:46388721-46389605	SK-N-SH	brain:	n/a	chr11:46389325-46389333 chr11:46389319-46389333 chr11:46389319-46389329
19	CTCF	chr11:46389183-46389465	Medullo	brain:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
20	CTCF	chr11:46389300-46389450	GM06990	blood:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
21	CTCF	chr11:46389360-46389510	HAc	cerebellar:	n/a	n/a
22	CTCF	chr11:46389300-46389450	HPF	lung:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
23	ZNF263	chr11:46389158-46389549	HEK293-T-REx	kidney:	n/a	n/a
24	CTCF	chr11:46389148-46389718	GM12891	blood:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
25	CTCF	chr11:46389142-46389636	HCT-116	colon:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
26	STAT3	chr11:46389194-46389490	MCF10A-Er-Src	breast:	n/a	chr11:46389354-46389363 chr11:46389353-46389362 chr11:46389354-46389362
27	CTCF	chr11:46389300-46389450	HPAF	blood vessel:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
28	CTCF	chr11:46389129-46389527	MCF-7	breast:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
29	STAT1	chr11:46389146-46389562	Hela-S3	cervix:	n/a	chr11:46389354-46389363 chr11:46389352-46389363 chr11:46389353-46389362 chr11:46389354-46389362
30	RAD21	chr11:46389118-46389532	IMR90	lung:	n/a	chr11:46389319-46389329 chr11:46389337-46389351 chr11:46389318-46389331 chr11:46389317-46389329 chr11:46389315-46389334
31	CTCF	chr11:46389121-46389547	IMR90	lung:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
32	RAD21	chr11:46389127-46389479	HepG2	liver:	n/a	chr11:46389319-46389329 chr11:46389337-46389351 chr11:46389318-46389331 chr11:46389317-46389329 chr11:46389315-46389334
33	CTCF	chr11:46389170-46389477	Gliobla	brain:	n/a	chr11:46389322-46389335 chr11:46389319-46389332 chr11:46389317-46389335 chr11:46389320-46389330 chr11:46389312-46389333 chr11:46389323-46389332 chr11:46389318-46389334
34	EBF1	chr11:46389197-46389553	GM12878	blood:	n/a	n/a
35	CTCF	chr11:46389142-46389527	K562	blood:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
36	RAD21	chr11:46389115-46389507	SK-N-SH_RA	brain:	n/a	chr11:46389319-46389329 chr11:46389337-46389351 chr11:46389318-46389331 chr11:46389317-46389329 chr11:46389315-46389334
37	RAD21	chr11:46389134-46389510	GM12878	blood:	n/a	chr11:46389319-46389329 chr11:46389337-46389351 chr11:46389318-46389331 chr11:46389317-46389329 chr11:46389315-46389334
38	CTCF	chr11:46389300-46389450	NHEK	skin:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
39	MAX	chr11:46389141-46389539	H1-hESC	embryonic stem cell:	n/a	n/a
40	ELF1	chr11:46389150-46389601	K562	blood:	n/a	n/a
41	RAD21	chr11:46388972-46389702	HCT-116	colon:	n/a	chr11:46389319-46389329 chr11:46389337-46389351 chr11:46389318-46389331 chr11:46389317-46389329 chr11:46389315-46389334
42	CTCF	chr11:46389179-46389502	GM10266	blood:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
43	CTCF	chr11:46389320-46389470	NHEK	skin:	n/a	chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389323-46389332
44	HMGN3	chr11:46389274-46389517	K562	blood:	n/a	n/a
45	ELF1	chr11:46389191-46389509	HepG2	liver:	n/a	n/a
46	RUNX3	chr11:46389134-46389533	GM12878	blood:	n/a	n/a
47	CTCF	chr11:46389180-46389466	MCF-7	breast:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
48	CTCF	chr11:46389182-46389478	A549	lung:	n/a	chr11:46389318-46389334 chr11:46389320-46389330 chr11:46389322-46389335 chr11:46389317-46389335 chr11:46389323-46389332 chr11:46389319-46389332 chr11:46389312-46389333
49	STAT3	chr11:46389194-46389505	MCF10A-Er-Src	breast:	n/a	chr11:46389354-46389363 chr11:46389353-46389362 chr11:46389354-46389362
50	ELF1	chr11:46389148-46389511	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46387947..46390422-chr11:46401426..46404815,4	MCF-7	breast:
2	chr11:46368530..46369310-chr11:46388882..46389582,3	K562	blood:
3	chr11:46384960..46386959-chr11:46389381..46391059,2	MCF-7	breast:

Variant related genes	Relation type
DGKZ	TF binding region
ENSG00000110492	Chromatin interaction
ENSG00000149091	Chromatin interaction

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

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

rs_ID	r²[population]
rs11038880	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11038901	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs11038916	0.85[YRI][hapmap]
rs11821531	1.00[AMR][1000 genomes]
rs11827702	1.00[AMR][1000 genomes]
rs11827909	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290327	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2229163	0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129348	1.00[AMR][1000 genomes]
rs7942614	0.85[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
8	nsv897318	chr11:46388220-46417815	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 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	chr11:46370000-46395800	Weak transcription	Aorta	Aorta
2	chr11:46374400-46389600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:46374400-46389600	Weak transcription	Fetal Brain Female	brain
4	chr11:46376000-46389600	Weak transcription	Brain Germinal Matrix	brain
5	chr11:46383200-46389800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:46383600-46389800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
7	chr11:46383600-46392200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:46383600-46402000	Weak transcription	Fetal Brain Male	brain
9	chr11:46384000-46390000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr11:46384000-46390400	Enhancers	Fetal Heart	heart
11	chr11:46384200-46389800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
12	chr11:46384200-46389800	Genic enhancers	Fetal Thymus	thymus
13	chr11:46384200-46391800	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr11:46384400-46390000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:46384400-46391600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:46384600-46390200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr11:46384800-46389600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:46384800-46389800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:46384800-46395600	Weak transcription	Small Intestine	intestine
20	chr11:46385200-46389600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:46385200-46389600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:46385200-46389600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:46385200-46391600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:46385200-46393000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:46385200-46400600	Strong transcription	Thymus	Thymus
26	chr11:46385400-46401200	Strong transcription	Dnd41	blood
27	chr11:46385600-46389600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:46385600-46389800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:46385600-46391200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:46385800-46389600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:46385800-46389600	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:46385800-46389600	Weak transcription	NHEK	skin
33	chr11:46385800-46389600	Weak transcription	Osteobl	bone
34	chr11:46385800-46390800	Weak transcription	Fetal Kidney	kidney
35	chr11:46385800-46390800	Weak transcription	NH-A	brain
36	chr11:46386000-46389600	Weak transcription	HMEC	breast
37	chr11:46386000-46390800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:46386000-46398200	Weak transcription	Primary B cells from cord blood	blood
39	chr11:46386000-46402200	Weak transcription	NHDF-Ad	bronchial
40	chr11:46386200-46389600	Weak transcription	Liver	Liver
41	chr11:46386200-46389800	Weak transcription	Hela-S3	cervix
42	chr11:46386200-46390200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:46386200-46390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:46386200-46390800	Weak transcription	HUVEC	blood vessel
45	chr11:46386200-46392000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:46386400-46395400	Weak transcription	Psoas Muscle	Psoas
47	chr11:46386600-46389600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr11:46386600-46389800	Weak transcription	Pancreas	Pancrea
49	chr11:46386600-46396000	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr11:46386800-46389600	Weak transcription	Left Ventricle	heart

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