Variant report

Variant	rs59163159
Chromosome Location	chr1:47001147-47001148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:47000697-47001188	HepG2	liver:	n/a	chr1:47000947-47000961 chr1:47000943-47000962
2	CTCF	chr1:47000564-47001240	HCT-116	colon:	n/a	chr1:47000945-47000963
3	CTCF	chr1:47000618-47001311	SK-N-SH	brain:	n/a	chr1:47000945-47000963
4	CTCF	chr1:47001120-47001270	AG04450	lung:	n/a	n/a
5	RAD21	chr1:47000725-47001149	SK-N-SH_RA	brain:	n/a	chr1:47000947-47000961 chr1:47000943-47000962
6	MAX	chr1:47000729-47001205	K562	blood:	n/a	n/a
7	JUND	chr1:47000765-47001246	HepG2	liver:	n/a	n/a
8	CTCF	chr1:47000747-47001178	MCF-7	breast:	n/a	chr1:47000945-47000963
9	RAD21	chr1:47000691-47001148	ECC-1	luminal epithelium:	n/a	chr1:47000947-47000961 chr1:47000943-47000962
10	RAD21	chr1:47000779-47001196	MCF-7	breast:	n/a	chr1:47000947-47000961 chr1:47000943-47000962
11	RAD21	chr1:47000641-47001217	HCT-116	colon:	n/a	chr1:47000947-47000961 chr1:47000943-47000962
12	CTCF	chr1:47000673-47001269	MCF-7	breast:	n/a	chr1:47000945-47000963
13	CTCF	chr1:47000729-47001196	A549	lung:	n/a	chr1:47000945-47000963
14	SMC3	chr1:47000759-47001160	HepG2	liver:	n/a	chr1:47000947-47000961
15	CTCF	chr1:47000733-47001160	K562	blood:	n/a	chr1:47000945-47000963
16	CTCF	chr1:47001120-47001270	GM12875	blood:	n/a	n/a
17	RAD21	chr1:47000663-47001210	ECC-1	luminal epithelium:	n/a	chr1:47000947-47000961 chr1:47000943-47000962
18	RAD21	chr1:47000754-47001165	Hela-S3	cervix:	n/a	chr1:47000947-47000961 chr1:47000943-47000962
19	MAX	chr1:47000760-47001189	MCF-7	breast:	n/a	n/a
20	BHLHE40	chr1:47000791-47001167	K562	blood:	n/a	n/a
21	RAD21	chr1:47000758-47001213	A549	lung:	n/a	chr1:47000947-47000961 chr1:47000943-47000962
22	RAD21	chr1:47000662-47001289	HCT-116	colon:	n/a	chr1:47000947-47000961 chr1:47000943-47000962
23	CTCF	chr1:47000665-47001289	K562	blood:	n/a	chr1:47000945-47000963
24	MAX	chr1:47000837-47001161	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr1:47000535-47001410	A549	lung:	n/a	chr1:47000945-47000963
26	CTCF	chr1:47000697-47001157	HepG2	liver:	n/a	chr1:47000945-47000963
27	NR2F2	chr1:47000737-47001172	MCF-7	breast:	n/a	chr1:47001070-47001085
28	CEBPB	chr1:47000709-47001226	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr1:47001100-47001250	BJ	skin:	n/a	n/a
30	SMC3	chr1:47000755-47001155	Hela-S3	cervix:	n/a	chr1:47000947-47000961
31	CTCF	chr1:47000771-47001151	GM12878	blood:	n/a	chr1:47000945-47000963
32	CTCF	chr1:47000745-47001168	K562	blood:	n/a	chr1:47000945-47000963

No.	Distal block	Cell Line	Cell type
1	chr1:46872033..46872647-chr1:47000499..47001417,2	K562	blood:
2	chr1:46870622..46873242-chr1:47000885..47003124,2	K562	blood:
3	chr1:46942860..46943709-chr1:47000567..47001413,4	MCF-7	breast:
4	chr1:46999703..47001765-chr1:47004931..47007448,2	K562	blood:
5	chr1:46912286..46913258-chr1:47000199..47001465,3	K562	blood:
6	chr1:46942855..46943565-chr1:47000606..47001211,2	K562	blood:
7	chr1:46991343..46993867-chr1:46999372..47001574,2	K562	blood:
8	chr1:46995449..46997636-chr1:47000610..47003037,2	K562	blood:
9	chr1:47000463..47001603-chr1:47013528..47014314,3	K562	blood:
10	chr1:46912494..46913218-chr1:47000111..47001290,4	MCF-7	breast:

Variant related genes	Relation type
MKNK1-AS1	TF binding region
ENSG00000117480	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11211300	1.00[EUR][1000 genomes]
rs12066517	1.00[EUR][1000 genomes]
rs60500235	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv998422	chr1:46969626-47023671	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv534953	chr1:46969626-47023671	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1010578	chr1:46977818-47010579	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46999600-47035000	Weak transcription	Right Atrium	heart
2	chr1:46999800-47007600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:47000000-47002800	Weak transcription	Spleen	Spleen
4	chr1:47000800-47002600	Enhancers	K562	blood
5	chr1:47001000-47001200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:47001000-47001200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:47001000-47001200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:47001000-47001200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
9	chr1:47001000-47001200	Enhancers	Hela-S3	cervix

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