Variant report

Variant	rs3737740
Chromosome Location	chr1:47000596-47000597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:47000564-47001240	HCT-116	colon:	n/a	chr1:47000945-47000963
2	CTCF	chr1:47000535-47001410	A549	lung:	n/a	chr1:47000945-47000963

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:46995357..46997930-chr1:46998172..47001101,2	K562	blood:
2	chr1:46872033..46872647-chr1:47000499..47001417,2	K562	blood:
3	chr1:46999087..47000869-chr1:47002211..47004388,2	K562	blood:
4	chr1:46942860..46943709-chr1:47000567..47001413,4	MCF-7	breast:
5	chr1:46999703..47001765-chr1:47004931..47007448,2	K562	blood:
6	chr1:46912286..46913258-chr1:47000199..47001465,3	K562	blood:
7	chr1:46991343..46993867-chr1:46999372..47001574,2	K562	blood:
8	chr1:47000463..47001603-chr1:47013528..47014314,3	K562	blood:
9	chr1:46912494..46913218-chr1:47000111..47001290,4	MCF-7	breast:

No data

Variant related genes	Relation type
MKNK1-AS1	TF binding region
ENSG00000269956	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11588450	0.99[EUR][1000 genomes]
rs1267301	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1267302	0.88[EUR][1000 genomes]
rs1267304	0.84[EUR][1000 genomes]
rs1267306	0.81[AMR][1000 genomes]
rs1267308	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1267312	0.80[EUR][1000 genomes]
rs1267313	0.80[EUR][1000 genomes]
rs1267314	0.80[AMR][1000 genomes]
rs1745370	0.81[EUR][1000 genomes]
rs1745371	0.80[EUR][1000 genomes]
rs2404611	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476162	0.89[EUR][1000 genomes]
rs2476164	0.80[EUR][1000 genomes]
rs2486163	0.98[EUR][1000 genomes]
rs57100184	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59935547	0.98[EUR][1000 genomes]
rs61395024	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61783087	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670699	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696219	0.99[EUR][1000 genomes]
rs6703148	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72894667	0.85[EUR][1000 genomes]
rs7519040	0.80[EUR][1000 genomes]
rs7524253	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7542296	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs942255	0.82[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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46994200-47000800	Weak transcription	K562	blood
2	chr1:46999600-47035000	Weak transcription	Right Atrium	heart
3	chr1:46999800-47001000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:46999800-47001000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:46999800-47001000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:46999800-47007600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:47000000-47002800	Weak transcription	Spleen	Spleen
8	chr1:47000200-47001000	Weak transcription	Hela-S3	cervix

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