Variant report

Variant	rs61493022
Chromosome Location	chr11:46385768-46385769
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr11:46384487-46385802	MCF-7	breast:	n/a	n/a
2	MXI1	chr11:46383816-46385877	SK-N-SH	brain:	n/a	chr11:46384795-46384810
3	SIN3AK20	chr11:46384553-46385898	MCF-7	breast:	n/a	n/a
4	MXI1	chr11:46384376-46385810	IMR90	lung:	n/a	chr11:46384795-46384810
5	HDAC2	chr11:46384932-46385785	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:46385099-46385957	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:46384265-46385939	K562	blood:	n/a	n/a
8	POLR2A	chr11:46382342-46386023	HL-60	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46384960..46386959-chr11:46389381..46391059,2	MCF-7	breast:
2	chr11:46359770..46360829-chr11:46384917..46385811,3	MCF-7	breast:
3	chr11:46373841..46375841-chr11:46385568..46388560,2	MCF-7	breast:
4	chr11:46384281..46388087-chr11:46397100..46400474,3	MCF-7	breast:
5	chr11:46385451..46387272-chr11:46410071..46412680,2	MCF-7	breast:
6	chr11:46385081..46385839-chr11:46410607..46411534,2	MCF-7	breast:
7	chr11:46373005..46374579-chr11:46384589..46385813,14	MCF-7	breast:
8	chr11:46268735..46270897-chr11:46384198..46386748,2	MCF-7	breast:
9	chr11:46384431..46387066-chr11:46399318..46401953,3	MCF-7	breast:
10	chr11:46373233..46374573-chr11:46384927..46385770,7	MCF-7	breast:
11	chr11:46373665..46374573-chr11:46384955..46385850,4	MCF-7	breast:
12	chr11:46360079..46360829-chr11:46384917..46385811,2	MCF-7	breast:
13	chr11:46376342..46379240-chr11:46384456..46386929,2	MCF-7	breast:
14	chr11:46384993..46387030-chr11:46401392..46402951,2	MCF-7	breast:
15	chr11:46366347..46371334-chr11:46384499..46389085,13	MCF-7	breast:
16	chr11:46383271..46387552-chr11:46403551..46406378,4	MCF-7	breast:
17	chr11:46372991..46374307-chr11:46385236..46386241,3	MCF-7	breast:

No data

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs60890473	1.00[AFR][1000 genomes]
rs73449978	1.00[AFR][1000 genomes]
rs73466042	1.00[AFR][1000 genomes]
rs73466080	1.00[AFR][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	chr11:46381400-46386000	Enhancers	NHDF-Ad	bronchial
7	chr11:46382400-46386000	Enhancers	HMEC	breast
8	chr11:46382400-46386200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:46382400-46386200	Enhancers	Lung	lung
10	chr11:46382400-46386600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:46382600-46385800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:46382600-46385800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:46382600-46386200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:46382600-46387200	Enhancers	Brain Substantia Nigra	brain
15	chr11:46382800-46385800	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr11:46383000-46385800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:46383200-46387800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
18	chr11:46383200-46389800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:46383400-46385800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:46383400-46388800	Weak transcription	Ovary	ovary
21	chr11:46383600-46385800	Enhancers	Osteobl	bone
22	chr11:46383600-46386600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:46383600-46389400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:46383600-46389800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:46383600-46392200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:46383600-46402000	Weak transcription	Fetal Brain Male	brain
27	chr11:46383800-46385800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:46383800-46386600	Genic enhancers	Gastric	stomach
29	chr11:46383800-46387200	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr11:46383800-46387600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:46383800-46389000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr11:46383800-46389400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr11:46383800-46389400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:46384000-46385800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:46384000-46385800	Strong transcription	NHEK	skin
36	chr11:46384000-46386800	Enhancers	Right Ventricle	heart
37	chr11:46384000-46390000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:46384000-46390400	Enhancers	Fetal Heart	heart
39	chr11:46384200-46386000	Enhancers	Primary B cells from cord blood	blood
40	chr11:46384200-46386400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:46384200-46386800	Enhancers	Left Ventricle	heart
42	chr11:46384200-46387000	Enhancers	Right Atrium	heart
43	chr11:46384200-46388400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:46384200-46389800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr11:46384200-46389800	Genic enhancers	Fetal Thymus	thymus
46	chr11:46384200-46391800	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr11:46384400-46387400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:46384400-46390000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:46384400-46391600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:46384600-46390200	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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