Variant report

Variant	rs58062166
Chromosome Location	chr11:57070843-57070844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57070759-57071031	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr11:57070828-57070962	MCF-7	breast:	n/a	n/a
3	CTCF	chr11:57070807-57070992	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:57070840-57070990	HCM	heart:	n/a	n/a
5	CTCF	chr11:57070760-57070910	WERI-Rb-1	eye:	n/a	n/a
6	POLR2A	chr11:57070441-57070938	U87	brain:	n/a	n/a
7	POLR2A	chr11:57070365-57072143	U87	brain:	n/a	n/a
8	POLR2A	chr11:57070516-57070845	PFSK-1	brain:	n/a	n/a
9	RAD21	chr11:57070782-57070997	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:57070820-57070970	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr11:57070780-57070930	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr11:57070800-57070950	HMEC	breast:	n/a	n/a
13	CTCF	chr11:57070842-57070915	HepG2	liver:	n/a	n/a
14	CTCF	chr11:57070800-57070950	HepG2	liver:	n/a	n/a
15	USF2	chr11:57070746-57070889	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr11:57070800-57070950	HBMEC	blood vessel:	n/a	n/a
17	POLR2A	chr11:57070538-57071022	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr11:57070780-57070930	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr11:57070760-57070910	HEK293	kidney:	n/a	n/a
20	CTCF	chr11:57070760-57070910	NHEK	skin:	n/a	n/a
21	POLR2A	chr11:57070688-57070933	HepG2	liver:	n/a	n/a
22	CTCF	chr11:57070800-57070950	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr11:57070840-57070990	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr11:57070820-57070970	HMEC	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57070443..57073281-chr11:57104289..57106679,2	MCF-7	breast:

No data

Variant related genes	Relation type
TNKS1BP1	TF binding region
ENSG00000109991	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1943470	1.00[AMR][1000 genomes]
rs57300240	1.00[AMR][1000 genomes]
rs58803839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73470597	1.00[AMR][1000 genomes]
rs7934838	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57052400-57078200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57063600-57071200	Strong transcription	HSMM	muscle
3	chr11:57064000-57071400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:57064200-57071600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:57064200-57071600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:57064800-57071200	ZNF genes & repeats	Fetal Stomach	stomach
7	chr11:57064800-57071200	Strong transcription	Placenta Amnion	Placenta Amnion
8	chr11:57064800-57071600	Strong transcription	Osteobl	bone
9	chr11:57064800-57072000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:57065000-57071000	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr11:57065000-57071800	Strong transcription	NHLF	lung
12	chr11:57065200-57071000	Strong transcription	NHEK	skin
13	chr11:57065600-57071200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:57065800-57071400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:57066400-57071400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr11:57066600-57071200	Strong transcription	Hela-S3	cervix
17	chr11:57067000-57071000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:57067000-57071000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr11:57067200-57071000	Strong transcription	Brain Anterior Caudate	brain
20	chr11:57067200-57071000	Strong transcription	Brain Hippocampus Middle	brain
21	chr11:57067200-57071000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:57067200-57071600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:57067200-57078400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:57067400-57078400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:57067400-57079000	Weak transcription	Primary B cells from cord blood	blood
26	chr11:57067600-57071000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:57067600-57071000	Strong transcription	Stomach Mucosa	stomach
28	chr11:57067600-57071600	Strong transcription	Fetal Brain Female	brain
29	chr11:57067600-57072400	Strong transcription	Right Ventricle	heart
30	chr11:57067600-57078400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:57067800-57071000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:57067800-57071000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:57067800-57071200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:57067800-57071200	Strong transcription	Rectal Smooth Muscle	rectum
35	chr11:57067800-57071400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:57067800-57073200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:57067800-57078000	Weak transcription	Fetal Heart	heart
38	chr11:57067800-57078400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:57068000-57071000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:57068000-57071200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:57068000-57071200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:57068200-57071000	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr11:57068200-57071400	Strong transcription	Colonic Mucosa	Colon
44	chr11:57068200-57071400	Strong transcription	Lung	lung
45	chr11:57068400-57071000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:57068400-57071000	Strong transcription	Fetal Lung	lung
47	chr11:57068400-57071200	Strong transcription	Adipose Nuclei	Adipose
48	chr11:57068400-57071600	Strong transcription	Placenta	Placenta
49	chr11:57068400-57072600	Strong transcription	A549	lung
50	chr11:57068400-57073600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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