Variant report

Variant	rs1711486
Chromosome Location	chr15:56757291-56757292
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:256)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:56757015-56757728	HepG2	liver:	n/a	n/a
2	ELF1	chr15:56757167-56757540	HepG2	liver:	n/a	n/a
3	MYC	chr15:56757098-56757685	K562	blood:	n/a	n/a
4	YY1	chr15:56757073-56757642	GM12892	blood:	n/a	n/a
5	MTA3	chr15:56757242-56757807	GM12878	blood:	n/a	n/a
6	TBL1XR1	chr15:56757275-56757446	K562	blood:	n/a	n/a
7	HCFC1	chr15:56757087-56757668	K562	blood:	n/a	n/a
8	REST	chr15:56757183-56757688	A549	lung:	n/a	chr15:56757240-56757260 chr15:56757256-56757269 chr15:56757240-56757260
9	TAF1	chr15:56756980-56757700	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr15:56757074-56757350	HCT-116	colon:	n/a	n/a
11	SP1	chr15:56757070-56757681	H1-hESC	embryonic stem cell:	n/a	chr15:56757347-56757368
12	MAX	chr15:56756957-56757923	ECC-1	luminal epithelium:	n/a	n/a
13	SP1	chr15:56756900-56757741	A549	lung:	n/a	chr15:56757347-56757368
14	NRF1	chr15:56757027-56757607	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr15:56757059-56757629	PANC-1	pancreas:	n/a	n/a
16	FOXA1	chr15:56757048-56757439	T-47D	breast:	n/a	chr15:56757122-56757134
17	RUNX3	chr15:56756856-56757721	GM12878	blood:	n/a	chr15:56757521-56757538
18	FOXM1	chr15:56756903-56757756	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:56757209-56757684	GM12891	blood:	n/a	n/a
20	SETDB1	chr15:56757167-56757820	K562	blood:	n/a	n/a
21	MAX	chr15:56756882-56758021	A549	lung:	n/a	n/a
22	SIN3A	chr15:56756746-56757683	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL3	chr15:56757103-56757795	A549	lung:	n/a	n/a
24	ETS1	chr15:56757071-56757339	K562	blood:	n/a	n/a
25	MYC	chr15:56757231-56757302	MCF-7	breast:	n/a	n/a
26	POLR2A	chr15:56756971-56757743	ECC-1	luminal epithelium:	n/a	n/a
27	GTF2F1	chr15:56757115-56757612	H1-hESC	embryonic stem cell:	n/a	n/a
28	ARID3A	chr15:56757183-56757342	HepG2	liver:	n/a	n/a
29	POLR2A	chr15:56757094-56757725	H1-hESC	embryonic stem cell:	n/a	n/a
30	PAX5	chr15:56757036-56757759	GM12878	blood:	n/a	chr15:56757266-56757275
31	YY1	chr15:56757096-56757320	K562	blood:	n/a	n/a
32	MAZ	chr15:56757068-56757622	GM12878	blood:	n/a	n/a
33	MAX	chr15:56757118-56757744	K562	blood:	n/a	n/a
34	KAP1	chr15:56757189-56757389	K562	blood:	n/a	n/a
35	E2F4	chr15:56757146-56757688	GM12878	blood:	n/a	n/a
36	SIN3AK20	chr15:56757141-56757540	HepG2	liver:	n/a	n/a
37	POLR2A	chr15:56757096-56757740	GM12891	blood:	n/a	n/a
38	SIN3AK20	chr15:56757051-56757704	SK-N-SH	brain:	n/a	n/a
39	PAX5	chr15:56757107-56757621	GM12878	blood:	n/a	chr15:56757266-56757275
40	TAF1	chr15:56757276-56757632	SK-N-SH	brain:	n/a	n/a
41	TAF1	chr15:56757096-56757404	K562	blood:	n/a	n/a
42	SIN3AK20	chr15:56757116-56757670	A549	lung:	n/a	n/a
43	POLR2A	chr15:56757124-56757736	GM12878	blood:	n/a	n/a
44	MYC	chr15:56756844-56757493	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr15:56756996-56757728	ProgFib	skin:	n/a	n/a
46	TCF12	chr15:56756830-56757843	A549	lung:	n/a	chr15:56757238-56757248 chr15:56757404-56757414
47	MAZ	chr15:56757107-56757620	K562	blood:	n/a	n/a
48	REST	chr15:56757210-56757785	A549	lung:	n/a	chr15:56757240-56757260 chr15:56757715-56757724 chr15:56757716-56757734 chr15:56757256-56757269 chr15:56757715-56757735 chr15:56757240-56757260
49	POLR2A	chr15:56757116-56757634	A549	lung:	n/a	n/a
50	TEAD4	chr15:56757045-56757491	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:56757290-56757340	ovcar-3	ovarian:	n/a
2	chr15:56757290-56757340	LNCaP	prostate:	n/a
3	chr15:56757290-56757340	HRE	kidney:	n/a
4	chr15:56757290-56757340	U87	brain:	n/a
5	chr15:56757290-56757340	GM12878	blood:	n/a
6	chr15:56757290-56757340	HL-60	blood:	n/a
7	chr15:56757290-56757340	BE2_C	brain:	n/a
8	chr15:56757290-56757340	AG10803	skin:	n/a
9	chr15:56757290-56757340	NB4	blood:	n/a
10	chr15:56757290-56757340	HEEpiC	esophagus:	n/a
11	chr15:56757290-56757340	GM12892	blood:	n/a
12	chr15:56757290-56757340	HCF	heart:	n/a
13	chr15:56757290-56757340	GM12891	blood:	n/a
14	chr15:56757290-56757340	HAEpiC	amniotic membrane:	n/a
15	chr15:56757290-56757340	MCF-7	breast:	n/a
16	chr15:56757290-56757340	PANC-1	pancreas:	n/a
17	chr15:56757290-56757340	HEK293	kidney:	embryo
18	chr15:56757290-56757340	NT2-D1	testis:	n/a
19	chr15:56757290-56757340	GM06990	blood:	n/a
20	chr15:56757290-56757340	Caco-2	colon:	n/a
21	chr15:56757290-56757340	Jurkat	blood:	n/a
22	chr15:56757290-56757340	HMEC	breast:	n/a
23	chr15:56757290-56757340	NH-A	brain:	n/a
24	chr15:56757290-56757340	AoSMC	blood vessel:	n/a
25	chr15:56757290-56757340	SAEC	small airway:	n/a
26	chr15:56757290-56757340	HUVEC	blood vessel:	n/a
27	chr15:56757290-56757340	MCF10A-Er-Src	breast:	n/a
28	chr15:56757290-56757340	Hepatocyte	liver:	n/a
29	chr15:56757290-56757340	A549	lung:	n/a
30	chr15:56757290-56757340	SKMC	muscle:	n/a
31	chr15:56757290-56757340	SK-N-MC	brain:	n/a
32	chr15:56757290-56757340	AG09309	skin:	n/a
33	chr15:56757290-56757340	Hela-S3	cervix:	n/a
34	chr15:56757290-56757340	SK-N-SH	brain:	n/a
35	chr15:56757290-56757340	HepG2	liver:	n/a
36	chr15:56757290-56757340	IMR90	lung:	fetal
37	chr15:56757290-56757340	T-47D	breast:	n/a
38	chr15:56757290-56757340	HCT-116	colon:	n/a
39	chr15:56757290-56757340	AG04450	lung:	fetal
40	chr15:56757290-56757340	NHDF-neo	bronchial:	n/a
41	chr15:56757290-56757340	H1-hESC	embryonic stem cell:	embryo
42	chr15:56757290-56757340	HIPEpiC	eye:	n/a
43	chr15:56757290-56757340	HCPEpiC	choroid plexus:	n/a
44	chr15:56757290-56757340	HRPEpiC	eye:	n/a
45	chr15:56757290-56757340	HCM	heart:	n/a
46	chr15:56757290-56757340	SK-N-SH_RA	brain:	n/a
47	chr15:56757290-56757340	HRCEpiC	kidney:	n/a
48	chr15:56757290-56757340	PFSK-1	brain:	n/a
49	chr15:56757290-56757340	PrEC	prostate:	n/a
50	chr15:56757290-56757340	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
MNS1	TF binding region
MNS1	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11633679	1.00[AMR][1000 genomes]
rs12438627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1593458	1.00[AMR][1000 genomes]
rs1711502	1.00[AMR][1000 genomes]
rs1711503	1.00[AMR][1000 genomes]
rs1711520	1.00[AMR][1000 genomes]
rs1715925	1.00[AMR][1000 genomes]
rs1715928	1.00[AMR][1000 genomes]
rs1715931	1.00[AMR][1000 genomes]
rs2676746	1.00[AMR][1000 genomes]
rs2713927	1.00[AMR][1000 genomes]
rs2718917	1.00[AFR][1000 genomes]
rs35226909	1.00[AMR][1000 genomes]
rs795792	1.00[AFR][1000 genomes]
rs811258	1.00[AFR][1000 genomes]
rs933841	1.00[AMR][1000 genomes]
rs938617	1.00[AMR][1000 genomes]
rs938618	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1545	chr15:56659498-56897381	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1046891	chr15:56659587-56792033	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv471330	chr15:56659709-56896385	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv471506	chr15:56659709-56896385	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv498847	chr15:56667038-56896395	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2525559	chr15:56669294-56897412	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv433294	chr15:56676457-56853535	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3693203	chr15:56676457-56894478	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv35150	chr15:56677730-56896304	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv9270	chr15:56686946-56760420	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2757602	chr15:56736478-56790080	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv2760033	chr15:56736478-56790080	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56756000-56757800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:56756200-56757800	Active TSS	Muscle Satellite Cultured Cells	--
3	chr15:56756200-56757800	Active TSS	K562	blood
4	chr15:56756200-56758000	Active TSS	Fetal Kidney	kidney
5	chr15:56756400-56757400	Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr15:56756400-56758000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:56756400-56758000	Active TSS	A549	lung
8	chr15:56756600-56757400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr15:56756600-56757400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr15:56756600-56757400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:56756600-56757400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr15:56756600-56757400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:56756600-56757400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:56756600-56757400	Active TSS	Brain Angular Gyrus	brain
15	chr15:56756600-56757400	Active TSS	Fetal Muscle Trunk	muscle
16	chr15:56756600-56757400	Active TSS	Stomach Smooth Muscle	stomach
17	chr15:56756600-56757400	Active TSS	GM12878-XiMat	blood
18	chr15:56756600-56757400	Active TSS	HMEC	breast
19	chr15:56756600-56757400	Active TSS	HSMM	muscle
20	chr15:56756600-56757400	Active TSS	NHEK	skin
21	chr15:56756600-56757600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr15:56756600-56757600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:56756600-56757600	Active TSS	Brain Anterior Caudate	brain
24	chr15:56756600-56757600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:56756600-56757600	Active TSS	Brain Substantia Nigra	brain
26	chr15:56756600-56757600	Active TSS	Fetal Intestine Small	intestine
27	chr15:56756600-56757600	Active TSS	Ovary	ovary
28	chr15:56756600-56757600	Active TSS	Placenta Amnion	Placenta Amnion
29	chr15:56756600-56757600	Active TSS	HSMMtube	muscle
30	chr15:56756600-56757800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr15:56756600-56757800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr15:56756600-56757800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr15:56756600-56757800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:56756600-56757800	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr15:56756600-56757800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:56756600-56757800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:56756600-56757800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:56756600-56757800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:56756600-56757800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr15:56756600-56757800	Active TSS	Brain Germinal Matrix	brain
41	chr15:56756600-56757800	Active TSS	Brain Hippocampus Middle	brain
42	chr15:56756600-56757800	Active TSS	Colon Smooth Muscle	Colon
43	chr15:56756600-56757800	Active TSS	Fetal Intestine Large	intestine
44	chr15:56756600-56757800	Flanking Active TSS	Fetal Thymus	thymus
45	chr15:56756600-56757800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr15:56756600-56757800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr15:56756600-56757800	Active TSS	Rectal Smooth Muscle	rectum
48	chr15:56756600-56757800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr15:56756600-56757800	Active TSS	NHLF	lung
50	chr15:56756600-56758000	Active TSS	HUES6 Cell Line	embryonic stem cell

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