Variant report

Variant	rs11644299
Chromosome Location	chr16:75231866-75231867
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr16:75231787-75232499	K562	blood:	n/a	n/a
2	SP1	chr16:75231523-75232066	H1-hESC	embryonic stem cell:	n/a	n/a
3	JUND	chr16:75231690-75231908	H1-hESC	embryonic stem cell:	n/a	n/a
4	RCOR1	chr16:75231689-75232035	HepG2	liver:	n/a	n/a
5	RAD21	chr16:75231467-75231926	MCF-7	breast:	n/a	n/a
6	MAFK	chr16:75231816-75231901	HepG2	liver:	n/a	n/a
7	CEBPB	chr16:75231512-75231913	MCF-7	breast:	n/a	n/a
8	RAD21	chr16:75231398-75231940	HCT-116	colon:	n/a	n/a
9	ELF1	chr16:75231667-75232017	K562	blood:	n/a	n/a
10	SP1	chr16:75231568-75231954	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr16:75231800-75231950	NB4	blood:	n/a	n/a
12	MXI1	chr16:75231792-75232777	SK-N-SH	brain:	n/a	n/a
13	SMC3	chr16:75231583-75232001	K562	blood:	n/a	n/a
14	RCOR1	chr16:75231649-75232358	K562	blood:	n/a	n/a
15	RAD21	chr16:75231425-75231907	MCF-7	breast:	n/a	n/a
16	RCOR1	chr16:75231696-75231994	K562	blood:	n/a	n/a
17	CTCF	chr16:75231428-75231879	MCF-7	breast:	n/a	n/a
18	CTCF	chr16:75231760-75231910	GM12866	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75231754..75233579-chr16:75584595..75587243,2	MCF-7	breast:
2	chr16:75182384..75183899-chr16:75231105..75233617,2	MCF-7	breast:
3	chr16:75150173..75150731-chr16:75231177..75232104,2	MCF-7	breast:
4	chr11:118798787..118799387-chr16:75231220..75231999,2	MCF-7	breast:
5	chr16:75207264..75209750-chr16:75229657..75232192,2	MCF-7	breast:
6	chr16:75221442..75223810-chr16:75231803..75233411,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213318	TF binding region
ENSG00000166816	Chromatin interaction
ENSG00000184517	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1049303	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11645877	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16957329	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs16957444	0.80[EUR][1000 genomes]
rs17673911	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs56902145	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS 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 target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75228400-75232600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:75230200-75232400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:75231000-75232000	Weak transcription	Pancreas	Pancrea
4	chr16:75231600-75232000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:75231600-75232000	Bivalent Enhancer	K562	blood
6	chr16:75231600-75232200	Enhancers	Placenta	Placenta
7	chr16:75231600-75232600	Flanking Bivalent TSS/Enh	HepG2	liver
8	chr16:75231800-75232000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:75231800-75232000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:75231800-75232000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:75231800-75232000	Flanking Bivalent TSS/Enh	NHLF	lung
12	chr16:75231800-75232200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
13	chr16:75231800-75232200	Active TSS	A549	lung
14	chr16:75231800-75232200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
15	chr16:75231800-75232400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:75231800-75232400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:75231800-75232400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
18	chr16:75231800-75232400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:75231800-75232400	Enhancers	Fetal Heart	heart
20	chr16:75231800-75232400	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr16:75231800-75232400	Flanking Bivalent TSS/Enh	Osteobl	bone
22	chr16:75231800-75232600	Bivalent Enhancer	Fetal Stomach	stomach
23	chr16:75231800-75232600	Bivalent Enhancer	Stomach Mucosa	stomach

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