Variant report

Variant	rs550806788
Chromosome Location	chr11:93467696-93467697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:93467421-93468933	GM12892	blood:	n/a	n/a
2	CHD1	chr11:93467593-93467888	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:93467648-93468392	U87	brain:	n/a	n/a
4	POLR2A	chr11:93460755-93469030	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:93458130-93475423	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:93466574-93468844	K562	blood:	n/a	n/a
7	POLR2A	chr11:93465161-93475401	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:93460289-93472162	K562	blood:	n/a	n/a
9	POLR2A	chr11:93464966-93469000	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:93465505-93475492	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:93460849-93475367	GM18505	blood:	n/a	n/a
12	POLR2A	chr11:93467537-93469090	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:93467487-93468789	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:93460250-93475527	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:93459876-93475383	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:93466346-93475414	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:93460023-93475421	GM12878	blood:	n/a	n/a
18	HEY1	chr11:93467611-93468533	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:93466956-93468533	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:93467613-93468614	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:93467581-93469037	GM12891	blood:	n/a	n/a
22	POLR2A	chr11:93466318-93469501	K562	blood:	n/a	n/a
23	HEY1	chr11:93467637-93468637	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:93460630-93475546	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr11:93467573-93469496	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:93459823-93475456	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:93467477-93468791	GM12891	blood:	n/a	n/a
28	PML	chr11:93467685-93468675	K562	blood:	n/a	n/a
29	PML	chr11:93467654-93469106	K562	blood:	n/a	n/a
30	POLR2A	chr11:93467471-93469080	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr11:93467515-93468442	U87	brain:	n/a	n/a
32	POLR2A	chr11:93467451-93469057	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:93467664-93468953	K562	blood:	n/a	n/a
34	POLR2A	chr11:93459661-93475348	K562	blood:	n/a	n/a
35	POLR2A	chr11:93460693-93469181	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr11:93466303-93469055	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr11:93467641-93469099	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:93467415-93469097	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:93467422-93468972	HCT-116	colon:	n/a	n/a
40	POLR2A	chr11:93467683-93467708	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr11:93467560-93468906	GM12891	blood:	n/a	n/a
42	POLR2A	chr11:93467520-93468938	GM12891	blood:	n/a	n/a
43	POLR2A	chr11:93466423-93469109	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:93467469-93468957	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:93460770-93475249	K562	blood:	n/a	n/a
46	POLR2A	chr11:93460670-93468979	A549	lung:	n/a	n/a
47	POLR2A	chr11:93467062-93468905	K562	blood:	n/a	n/a
48	POLR2A	chr11:93467519-93469039	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr11:93467611-93469099	GM12892	blood:	n/a	n/a
50	IRF1	chr11:93467602-93467831	K562	blood:	n/a	chr11:93467710-93467723 chr11:93467606-93467619 chr11:93467717-93467724

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VSTM5-1	chr11:93465410-93469014	NONHSAT023663
2	lnc-VSTM5-1	chr11:93466516-93467827	NONHSAT023666

No data

Variant related genes	Relation type
MIR1304	TF binding region
SNORA32	TF binding region
SNORA25	TF binding region
SNORD6	TF binding region
TAF1D	TF binding region
SNORA18	TF binding region
SNORA1	TF binding region
SNORA8	TF binding region
SNORD5	TF binding region
ENSG00000042429	Chromatin interaction
ENSG00000166012	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	nsv983054	chr11:93467678-93468968	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93444800-93471000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:93447600-93468000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:93449200-93471800	Weak transcription	Right Atrium	heart
4	chr11:93449600-93471800	Weak transcription	Esophagus	oesophagus
5	chr11:93450600-93471800	Weak transcription	Gastric	stomach
6	chr11:93450600-93473000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:93451600-93469800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:93451600-93470800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:93453200-93468000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:93453600-93468000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:93453800-93471200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:93453800-93471800	Strong transcription	Fetal Muscle Leg	muscle
13	chr11:93453800-93471800	Strong transcription	Fetal Thymus	thymus
14	chr11:93453800-93472400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:93454000-93470400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:93454400-93467800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:93454400-93469000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:93454400-93469400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:93454400-93469600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:93454400-93469800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:93454400-93470000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr11:93454400-93470800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:93454400-93471000	Strong transcription	Fetal Lung	lung
24	chr11:93454600-93471000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:93454600-93471000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:93454800-93471000	Strong transcription	Adipose Nuclei	Adipose
27	chr11:93455000-93468000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:93455000-93471200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:93455000-93471800	Strong transcription	Placenta	Placenta
30	chr11:93455200-93467800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:93457400-93470200	Strong transcription	Brain Cingulate Gyrus	brain
32	chr11:93457600-93467800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:93458400-93467800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:93458400-93471800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr11:93458600-93469400	Strong transcription	HMEC	breast
36	chr11:93458800-93467800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:93458800-93471000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr11:93458800-93471000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:93458800-93471800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:93459400-93469600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:93459400-93470400	Strong transcription	Primary B cells from cord blood	blood
42	chr11:93459400-93473000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:93459600-93470200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:93459600-93471800	Strong transcription	Colon Smooth Muscle	Colon
45	chr11:93459800-93470800	Strong transcription	Brain Hippocampus Middle	brain
46	chr11:93460000-93468000	Strong transcription	NHLF	lung
47	chr11:93460200-93467800	Strong transcription	NHDF-Ad	bronchial
48	chr11:93460200-93468000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:93460200-93468400	Strong transcription	K562	blood
50	chr11:93460200-93471000	Strong transcription	Brain Inferior Temporal Lobe	brain

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