Variant report

Variant	rs11647243
Chromosome Location	chr16:30965308-30965309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:30964682-30965544	HCT-116	colon:	n/a	n/a
2	ZNF143	chr16:30964975-30965332	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr16:30965168-30965483	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:30964265-30965634	HL-60	blood:	n/a	n/a
5	RAD21	chr16:30964790-30965587	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr16:30964770-30965691	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr16:30964842-30965503	HepG2	liver:	n/a	n/a
8	PML	chr16:30964830-30965566	GM12878	blood:	n/a	n/a
9	KAP1	chr16:30964961-30965378	U2OS	brain:	n/a	n/a
10	MBD4	chr16:30965007-30965690	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:30965110-30965355	Hela-S3	cervix:	n/a	n/a
12	TEAD4	chr16:30964885-30965476	HepG2	liver:	n/a	n/a
13	ZBTB7A	chr16:30965012-30965368	K562	blood:	n/a	n/a
14	TEAD4	chr16:30964911-30965390	K562	blood:	n/a	n/a
15	POLR2A	chr16:30964781-30966524	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr16:30964812-30965421	HCT-116	colon:	n/a	n/a
17	HDAC2	chr16:30964873-30965407	HepG2	liver:	n/a	n/a
18	CTCF	chr16:30965009-30965322	SK-N-SH_RA	brain:	n/a	n/a
19	RAD21	chr16:30964975-30965362	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr16:30964884-30965395	K562	blood:	n/a	n/a
21	CTCF	chr16:30964904-30965377	HepG2	liver:	n/a	n/a
22	POLR2A	chr16:30965021-30965558	GM12892	blood:	n/a	n/a
23	RAD21	chr16:30965027-30965324	K562	blood:	n/a	n/a
24	BCLAF1	chr16:30964922-30965386	GM12878	blood:	n/a	n/a
25	ZNF143	chr16:30964992-30965318	GM12878	blood:	n/a	n/a
26	HNF4G	chr16:30964871-30965309	HepG2	liver:	n/a	chr16:30965055-30965070
27	RAD21	chr16:30964844-30965446	ECC-1	luminal epithelium:	n/a	n/a
28	CTCFL	chr16:30965049-30965349	K562	blood:	n/a	n/a
29	RAD21	chr16:30964755-30965619	HCT-116	colon:	n/a	n/a
30	RAD21	chr16:30964930-30965385	HepG2	liver:	n/a	n/a
31	RAD21	chr16:30964851-30965477	A549	lung:	n/a	n/a
32	RAD21	chr16:30964876-30965460	MCF-7	breast:	n/a	n/a
33	POLR2A	chr16:30964949-30965464	H1-hESC	embryonic stem cell:	n/a	n/a
34	RUNX3	chr16:30964916-30965355	GM12878	blood:	n/a	n/a
35	POLR2A	chr16:30964981-30965315	GM12878	blood:	n/a	n/a
36	ZNF263	chr16:30964963-30965311	HEK293-T-REx	kidney:	n/a	n/a
37	POLR2A	chr16:30965003-30965313	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYBL2	chr16:30964853-30965521	HepG2	liver:	n/a	n/a
39	CTCF	chr16:30964916-30965319	A549	lung:	n/a	n/a
40	RAD21	chr16:30964962-30965326	A549	lung:	n/a	n/a
41	TBP	chr16:30965061-30965448	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr16:30964915-30965420	K562	blood:	n/a	n/a
43	HDAC2	chr16:30965011-30965425	H1-hESC	embryonic stem cell:	n/a	n/a
44	FOSL2	chr16:30964914-30965442	HepG2	liver:	n/a	n/a
45	POLR2A	chr16:30965279-30965391	ProgFib	skin:	n/a	n/a
46	SMC3	chr16:30965001-30965380	Hela-S3	cervix:	n/a	n/a
47	TCF12	chr16:30965045-30965328	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr16:30964173-30965538	SK-N-SH	brain:	n/a	n/a
49	CTCF	chr16:30964820-30965492	K562	blood:	n/a	n/a
50	MAX	chr16:30964924-30965331	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30964642..30965617-chr16:31106844..31107762,2	MCF-7	breast:
2	chr16:30785797..30787464-chr16:30963811..30966272,2	MCF-7	breast:
3	chr16:30965141..30965649-chr16:31153438..31153943,2	K562	blood:
4	chr16:30963607..30965325-chr16:31200417..31202321,2	K562	blood:
5	chr16:30937188..30939458-chr16:30962868..30965348,2	MCF-7	breast:
6	chr16:30963980..30966724-chr16:31193195..31195415,2	K562	blood:
7	chr16:30932292..30934682-chr16:30962969..30965851,2	MCF-7	breast:
8	chr16:30963767..30965339-chr16:31164383..31165945,2	K562	blood:
9	chr16:30964695..30965585-chr16:31106827..31107778,2	K562	blood:
10	chr16:30953254..30955374-chr16:30963560..30966180,2	MCF-7	breast:
11	chr16:30965209..30967609-chr16:30971840..30973677,2	MCF-7	breast:
12	chr16:30958395..30965480-chr16:31189619..31195213,11	K562	blood:
13	chr16:30934102..30936150-chr16:30963527..30965846,2	K562	blood:
14	chr16:30952069..30953798-chr16:30963474..30966133,2	MCF-7	breast:
15	chr16:30964627..30967524-chr16:31200218..31203486,3	K562	blood:

No data

Variant related genes	Relation type
SETD1A	TF binding region
ENSG00000260852	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000099364	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11640210	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11642466	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap]
rs11642603	0.88[CEU][hapmap]
rs11642733	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11642862	0.88[CEU][hapmap];1.00[GIH][hapmap]
rs11644454	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11645175	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap]
rs11645367	1.00[AFR][1000 genomes]
rs11646082	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11648125	0.80[EUR][1000 genomes]
rs17849880	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3812998	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
6	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
7	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
8	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS 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	105 gene(s)	inside rSNPs	diseases
9	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
10	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
11	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers 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	264 gene(s)	inside rSNPs	diseases
12	nsv905736	chr16:30900235-30995528	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
14	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
15	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
16	nsv905738	chr16:30906274-30973926	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
17	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
18	nsv482192	chr16:30960405-30966258	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	n/a
19	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11647243	FBRS	cis	cerebellum	SCAN
rs11647243	NCRNA00095	cis	cerebellum	SCAN
rs11647243	RABEP2	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30962000-30967800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr16:30962000-30968000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:30962000-30968000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr16:30962000-30968000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr16:30962000-30968000	Weak transcription	HSMM	muscle
6	chr16:30962200-30965800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr16:30962200-30968000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:30962200-30968000	Weak transcription	Psoas Muscle	Psoas
9	chr16:30962400-30965600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr16:30962400-30967600	Weak transcription	Dnd41	blood
11	chr16:30962400-30968000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr16:30962400-30968000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:30962400-30968000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr16:30962400-30968400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr16:30962600-30968000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr16:30962600-30968000	Weak transcription	NHEK	skin
17	chr16:30962600-30968200	Enhancers	Liver	Liver
18	chr16:30962800-30968000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr16:30962800-30968000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr16:30963000-30968200	Weak transcription	Fetal Brain Female	brain
21	chr16:30963200-30966200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:30963400-30967800	Weak transcription	Hela-S3	cervix
23	chr16:30963400-30968000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:30963400-30968000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:30963400-30968000	Weak transcription	HMEC	breast
26	chr16:30963600-30968200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:30963800-30965600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:30964200-30965400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
29	chr16:30964400-30965400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:30964400-30965400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:30964400-30965400	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr16:30964400-30965400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr16:30964400-30965600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:30964400-30965600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:30964400-30965600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr16:30964400-30965600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr16:30964400-30965600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:30964400-30965600	Genic enhancers	Fetal Stomach	stomach
39	chr16:30964400-30965600	Enhancers	Ovary	ovary
40	chr16:30964400-30965600	Genic enhancers	NHLF	lung
41	chr16:30964400-30965800	Enhancers	A549	lung
42	chr16:30964400-30966200	Genic enhancers	Spleen	Spleen
43	chr16:30964600-30965400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:30964600-30965400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:30964600-30965400	Enhancers	Colonic Mucosa	Colon
46	chr16:30964600-30965400	Enhancers	Fetal Heart	heart
47	chr16:30964600-30965400	Genic enhancers	Thymus	Thymus
48	chr16:30964600-30965600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:30964600-30965600	Enhancers	Brain Angular Gyrus	brain
50	chr16:30964600-30965600	Enhancers	Stomach Smooth Muscle	stomach

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