Variant report

Variant	rs60650386
Chromosome Location	chr1:155274484-155274485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155274302-155274998	GM19099	blood:	n/a	n/a
2	MYBL2	chr1:155274213-155274877	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:155274283-155274526	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:155274244-155274831	HepG2	liver:	n/a	n/a
5	NFIC	chr1:155274241-155274622	HepG2	liver:	n/a	n/a
6	RELA	chr1:155274308-155274746	GM19099	blood:	n/a	n/a
7	SIN3AK20	chr1:155274362-155274849	HepG2	liver:	n/a	n/a
8	TBP	chr1:155274439-155274715	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:155274463-155274744	HepG2	liver:	n/a	n/a
10	ELF1	chr1:155274416-155274769	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:155274308-155274975	HepG2	liver:	n/a	n/a
12	MYBL2	chr1:155274218-155274912	HepG2	liver:	n/a	n/a
13	REST	chr1:155274373-155274737	HepG2	liver:	n/a	n/a
14	HEY1	chr1:155274206-155275040	HepG2	liver:	n/a	n/a
15	CTCF	chr1:155274430-155274492	HepG2	liver:	n/a	n/a
16	SIN3AK20	chr1:155274314-155274772	HepG2	liver:	n/a	n/a
17	CTCF	chr1:155274460-155274610	RPTEC	kidney:	n/a	n/a
18	MXI1	chr1:155274434-155274819	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:155274246-155274872	HepG2	liver:	n/a	n/a
20	ELF1	chr1:155274353-155274842	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:155274275-155274867	GM18951	blood:	n/a	n/a
22	POLR2A	chr1:155274228-155274825	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155242743..155244954-chr1:155272841..155275388,3	K562	blood:
2	chr1:155270303..155273300-chr1:155273424..155278245,4	MCF-7	breast:
3	chr1:155254134..155256609-chr1:155273480..155276250,2	MCF-7	breast:
4	chr1:155242743..155244503-chr1:155272841..155275388,2	K562	blood:
5	chr1:155187979..155190547-chr1:155272522..155275143,2	K562	blood:
6	chr1:155211806..155213841-chr1:155274140..155275790,2	K562	blood:
7	chr1:155246042..155249168-chr1:155274467..155279979,9	MCF-7	breast:

No data

Variant related genes	Relation type
PKLR	TF binding region
FDPS	TF binding region
ENSG00000143630	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000143627	Chromatin interaction
ENSG00000160766	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10157264	1.00[AMR][1000 genomes]
rs16836822	1.00[AMR][1000 genomes]
rs35826120	1.00[AMR][1000 genomes]
rs60211142	1.00[AMR][1000 genomes]
rs60455144	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61518562	1.00[AMR][1000 genomes]
rs61732801	1.00[AMR][1000 genomes]
rs7549232	1.00[AMR][1000 genomes]
rs8177963	1.00[AMR][1000 genomes]
rs9803672	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
2	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
3	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
4	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
5	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
6	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
7	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155265400-155277800	Weak transcription	Right Atrium	heart
2	chr1:155267800-155276000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:155270600-155275800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:155270800-155278600	Weak transcription	Small Intestine	intestine
5	chr1:155271800-155275800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:155271800-155276000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:155271800-155276800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:155271800-155277400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:155272600-155277800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:155273000-155275200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:155273200-155274600	Weak transcription	K562	blood
12	chr1:155274200-155274600	Flanking Active TSS	HepG2	liver
13	chr1:155274200-155274800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:155274200-155275000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr1:155274200-155275200	Enhancers	Colonic Mucosa	Colon
16	chr1:155274200-155275800	Flanking Active TSS	Liver	Liver
17	chr1:155274200-155276400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:155274200-155276600	Enhancers	HSMM	muscle
19	chr1:155274200-155276600	Enhancers	HSMMtube	muscle
20	chr1:155274400-155274600	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr1:155274400-155274800	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr1:155274400-155274800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr1:155274400-155274800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:155274400-155275000	Enhancers	Fetal Intestine Large	intestine
25	chr1:155274400-155275000	Enhancers	Fetal Intestine Small	intestine
26	chr1:155274400-155276800	Enhancers	Fetal Muscle Leg	muscle

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