Variant report

Variant	rs57043077
Chromosome Location	chr5:112196309-112196310
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:112196279-112197366	K562	blood:	n/a	n/a
2	POLR2A	chr5:112195942-112197882	GM12891	blood:	n/a	n/a
3	POLR2A	chr5:112196117-112197595	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr5:112196300-112197558	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:112195946-112198491	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:112196180-112197447	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:112196004-112197315	Raji	blood:	n/a	n/a
8	MYBL2	chr5:112196292-112197254	HepG2	liver:	n/a	n/a
9	POLR2A	chr5:112195601-112197435	HepG2	liver:	n/a	n/a
10	POLR2A	chr5:112196173-112197399	GM12892	blood:	n/a	n/a
11	TCF12	chr5:112196244-112197440	A549	lung:	n/a	n/a
12	POLR2A	chr5:112195994-112197448	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr5:112196027-112196323	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr5:112196009-112197438	GM12892	blood:	n/a	n/a
15	POLR2A	chr5:112195959-112198286	GM12878	blood:	n/a	n/a
16	NR2F2	chr5:112196272-112197343	K562	blood:	n/a	n/a
17	POLR2A	chr5:112196300-112197383	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112196028..112199860-chr5:112256680..112260462,5	MCF-7	breast:
2	chr5:112195906..112198557-chr5:112198644..112200582,4	MCF-7	breast:
3	chr5:112195408..112199487-chr5:112199566..112202603,4	K562	blood:
4	chr5:112195538..112198310-chr5:112312375..112313895,2	K562	blood:
5	chr5:112195332..112197808-chr5:112240725..112243513,2	K562	blood:
6	chr5:112172653..112174509-chr5:112195056..112196675,2	MCF-7	breast:
7	chr5:112041706..112044186-chr5:112195413..112197519,3	MCF-7	breast:
8	chr5:112194408..112196977-chr5:112198175..112200544,3	MCF-7	breast:
9	chr5:112196139..112198613-chr5:112233393..112236476,4	K562	blood:
10	chr5:112152202..112156283-chr5:112195630..112198484,4	MCF-7	breast:
11	chr5:112195239..112200315-chr5:112255126..112261929,8	MCF-7	breast:
12	chr5:112188139..112189765-chr5:112194415..112196734,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272869	TF binding region
SRP19	TF binding region
ENSG00000153037	Chromatin interaction
ENSG00000129625	Chromatin interaction
ENSG00000266499	Chromatin interaction
ENSG00000172795	Chromatin interaction
ENSG00000272389	Chromatin interaction
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs17135067	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17135193	0.80[EUR][1000 genomes]
rs17285666	0.86[EUR][1000 genomes]
rs17285827	0.86[EUR][1000 genomes]
rs17286230	0.86[EUR][1000 genomes]
rs17290064	1.00[EUR][1000 genomes]
rs17310536	0.93[EUR][1000 genomes]
rs17311019	0.93[EUR][1000 genomes]
rs17311096	0.93[EUR][1000 genomes]
rs17359859	1.00[EUR][1000 genomes]
rs17360045	1.00[EUR][1000 genomes]
rs17360289	0.93[EUR][1000 genomes]
rs17369211	0.93[EUR][1000 genomes]
rs17369487	0.93[EUR][1000 genomes]
rs17370550	0.86[EUR][1000 genomes]
rs17371015	0.86[EUR][1000 genomes]
rs1833560	0.80[EUR][1000 genomes]
rs55684649	1.00[EUR][1000 genomes]
rs55771959	1.00[EUR][1000 genomes]
rs55798475	0.93[EUR][1000 genomes]
rs56052440	0.86[EUR][1000 genomes]
rs56194248	1.00[EUR][1000 genomes]
rs56218335	1.00[EUR][1000 genomes]
rs56235416	0.86[EUR][1000 genomes]
rs56320268	1.00[EUR][1000 genomes]
rs56321569	0.86[EUR][1000 genomes]
rs56328836	1.00[EUR][1000 genomes]
rs56405915	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56407833	1.00[AFR][1000 genomes]
rs57112380	0.94[AFR][1000 genomes]
rs58217280	1.00[AFR][1000 genomes]
rs60532731	0.87[EUR][1000 genomes]
rs73216225	0.86[EUR][1000 genomes]
rs73220038	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73220049	0.82[AFR][1000 genomes]
rs73220063	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73789233	1.00[AFR][1000 genomes]
rs7704566	0.86[EUR][1000 genomes]
rs7728766	0.86[EUR][1000 genomes]
rs7730441	0.80[EUR][1000 genomes]
rs7730944	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv870231	chr5:112192379-112247084	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112191400-112196400	Weak transcription	HepG2	liver
2	chr5:112192400-112196400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:112196000-112196400	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:112196000-112196400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr5:112196000-112198000	Active TSS	GM12878-XiMat	blood
6	chr5:112196200-112196400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:112196200-112196400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:112196200-112196400	Active TSS	Primary T cells from cord blood	blood
9	chr5:112196200-112196400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:112196200-112196400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:112196200-112196400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:112196200-112196400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:112196200-112196400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:112196200-112196400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:112196200-112196400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr5:112196200-112196400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:112196200-112196400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:112196200-112196400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:112196200-112196400	Active TSS	Brain Cingulate Gyrus	brain
20	chr5:112196200-112196400	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr5:112196200-112196400	Active TSS	Duodenum Mucosa	Duodenum
22	chr5:112196200-112196400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr5:112196200-112196400	Enhancers	Fetal Muscle Trunk	muscle
24	chr5:112196200-112196400	Enhancers	Fetal Muscle Leg	muscle
25	chr5:112196200-112196400	Enhancers	Lung	lung
26	chr5:112196200-112196400	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr5:112196200-112196400	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr5:112196200-112196400	Enhancers	Right Atrium	heart
29	chr5:112196200-112196400	Enhancers	Right Ventricle	heart
30	chr5:112196200-112196400	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr5:112196200-112196400	Enhancers	Stomach Mucosa	stomach
32	chr5:112196200-112196400	Enhancers	HMEC	breast
33	chr5:112196200-112196400	Enhancers	K562	blood
34	chr5:112196200-112196400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr5:112196200-112196400	Enhancers	Osteobl	bone
36	chr5:112196200-112196600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:112196200-112196600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:112196200-112196600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:112196200-112196600	Flanking Active TSS	Liver	Liver
40	chr5:112196200-112196600	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr5:112196200-112196600	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr5:112196200-112196600	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr5:112196200-112196600	Enhancers	Spleen	Spleen
44	chr5:112196200-112196800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:112196200-112196800	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr5:112196200-112196800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr5:112196200-112196800	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr5:112196200-112196800	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr5:112196200-112196800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr5:112196200-112196800	Flanking Active TSS	Dnd41	blood

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