Variant report

Variant	rs72910085
Chromosome Location	chr11:46386816-46386817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46386057-46386936	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:46386144-46387181	K562	blood:	n/a	n/a
3	POLR2A	chr11:46386564-46386834	K562	blood:	n/a	n/a
4	POLR2A	chr11:46386044-46386831	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46384960..46386959-chr11:46389381..46391059,2	MCF-7	breast:
2	chr11:46373841..46375841-chr11:46385568..46388560,2	MCF-7	breast:
3	chr11:46384281..46388087-chr11:46397100..46400474,3	MCF-7	breast:
4	chr11:46385451..46387272-chr11:46410071..46412680,2	MCF-7	breast:
5	chr11:46384431..46387066-chr11:46399318..46401953,3	MCF-7	breast:
6	chr11:46376342..46379240-chr11:46384456..46386929,2	MCF-7	breast:
7	chr11:46384993..46387030-chr11:46401392..46402951,2	MCF-7	breast:
8	chr11:46366347..46371334-chr11:46384499..46389085,13	MCF-7	breast:
9	chr11:46383271..46387552-chr11:46403551..46406378,4	MCF-7	breast:

No data

Variant related genes	Relation type
DGKZ	TF binding region
ENSG00000149091	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000264102	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs20542	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28366017	0.89[ASN][1000 genomes]
rs3740976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

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	chr11:46378600-46389400	Weak transcription	HepG2	liver
6	chr11:46382600-46387200	Enhancers	Brain Substantia Nigra	brain
7	chr11:46383200-46387800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
8	chr11:46383200-46389800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:46383400-46388800	Weak transcription	Ovary	ovary
10	chr11:46383600-46389400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:46383600-46389800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:46383600-46392200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:46383600-46402000	Weak transcription	Fetal Brain Male	brain
14	chr11:46383800-46387200	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:46383800-46387600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:46383800-46389000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr11:46383800-46389400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr11:46383800-46389400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:46384000-46390000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr11:46384000-46390400	Enhancers	Fetal Heart	heart
21	chr11:46384200-46387000	Enhancers	Right Atrium	heart
22	chr11:46384200-46388400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:46384200-46389800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr11:46384200-46389800	Genic enhancers	Fetal Thymus	thymus
25	chr11:46384200-46391800	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr11:46384400-46387400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr11:46384400-46390000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:46384400-46391600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:46384600-46390200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr11:46384800-46388000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:46384800-46388000	Weak transcription	Fetal Intestine Large	intestine
32	chr11:46384800-46389600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:46384800-46389800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:46384800-46395600	Weak transcription	Small Intestine	intestine
35	chr11:46385000-46387600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:46385000-46388400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:46385000-46388600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:46385000-46388600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr11:46385000-46388600	Weak transcription	Fetal Lung	lung
40	chr11:46385000-46388600	Weak transcription	Stomach Mucosa	stomach
41	chr11:46385000-46388600	Weak transcription	K562	blood
42	chr11:46385200-46388600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:46385200-46388800	Strong transcription	Fetal Intestine Small	intestine
44	chr11:46385200-46389600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:46385200-46389600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:46385200-46389600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:46385200-46391600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:46385200-46393000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:46385200-46400600	Strong transcription	Thymus	Thymus
50	chr11:46385400-46387800	Weak transcription	NHLF	lung

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