Variant report

Variant	rs2414277
Chromosome Location	chr15:54270793-54270794
allele	A/G
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	E2F6	chr15:54270406-54270935	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:54270376-54271098	H1-neurons	neurons:	n/a	n/a
3	CHD2	chr15:54270395-54270817	GM12878	blood:	n/a	n/a
4	MXI1	chr15:54270439-54270995	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:54270418-54270804	H1-neurons	neurons:	n/a	n/a
6	MAX	chr15:54270438-54270843	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr15:54270385-54271032	H1-hESC	embryonic stem cell:	n/a	n/a
8	SMC3	chr15:54270510-54270833	GM12878	blood:	n/a	n/a
9	TBP	chr15:54270426-54270799	GM12878	blood:	n/a	n/a
10	ZNF263	chr15:54270308-54270917	HEK293-T-REx	kidney:	n/a	n/a
11	MAX	chr15:54270353-54270885	H1-hESC	embryonic stem cell:	n/a	n/a
12	EBF1	chr15:54270572-54270830	GM12878	blood:	n/a	n/a
13	RAD21	chr15:54270322-54270846	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000259669	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11857334	0.93[AMR][1000 genomes]
rs1478177	0.85[EUR][1000 genomes]
rs1478218	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17551796	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4145152	1.00[ASW][hapmap];0.96[CEU][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4776196	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4776197	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7175118	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72736943	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8024617	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904223	chr15:53665247-54340070	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1052235	chr15:53677524-54618723	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv542388	chr15:53677524-54618723	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv904226	chr15:53883244-54458310	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv457144	chr15:53890362-54455757	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv569440	chr15:53890362-54455757	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv569441	chr15:53890362-54456754	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv457145	chr15:53890393-54456754	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv569442	chr15:53890393-54456754	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv949528	chr15:54041154-54281981	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv817539	chr15:54132584-55095235	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv833011	chr15:54226235-54421567	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv569491	chr15:54260920-54397493	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv904229	chr15:54267610-54340070	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54269200-54277200	Active TSS	Aorta	Aorta
2	chr15:54269800-54274800	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr15:54270000-54270800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
4	chr15:54270000-54271600	Active TSS	Stomach Smooth Muscle	stomach
5	chr15:54270200-54270800	Active TSS	Brain Substantia Nigra	brain
6	chr15:54270200-54270800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr15:54270200-54271000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:54270200-54271000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
9	chr15:54270200-54271000	Bivalent/Poised TSS	HepG2	liver
10	chr15:54270200-54271200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr15:54270200-54271200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr15:54270200-54271200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:54270200-54271400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr15:54270200-54271400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr15:54270200-54271400	Active TSS	Colon Smooth Muscle	Colon
16	chr15:54270200-54271400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr15:54270200-54271600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr15:54270200-54271800	Active TSS	Brain Angular Gyrus	brain
19	chr15:54270200-54273200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:54270400-54270800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:54270400-54270800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:54270400-54270800	Bivalent/Poised TSS	Colonic Mucosa	Colon
23	chr15:54270400-54270800	Flanking Active TSS	Esophagus	oesophagus
24	chr15:54270400-54270800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr15:54270400-54270800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
26	chr15:54270400-54270800	Flanking Active TSS	Gastric	stomach
27	chr15:54270400-54270800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr15:54270400-54270800	Active TSS	Right Ventricle	heart
29	chr15:54270400-54270800	Bivalent/Poised TSS	Stomach Mucosa	stomach
30	chr15:54270400-54271000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:54270400-54271000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:54270400-54271000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:54270400-54271000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:54270400-54271000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr15:54270400-54271000	Bivalent Enhancer	Liver	Liver
36	chr15:54270400-54271000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr15:54270400-54271000	Bivalent/Poised TSS	Fetal Stomach	stomach
38	chr15:54270400-54271000	Flanking Active TSS	Ovary	ovary
39	chr15:54270400-54271000	Flanking Active TSS	Pancreas	Pancrea
40	chr15:54270400-54271200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:54270400-54271200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:54270400-54271200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:54270400-54271200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:54270400-54271200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:54270400-54271200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
46	chr15:54270400-54271200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:54270400-54271200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
48	chr15:54270400-54271200	Active TSS	Placenta Amnion	Placenta Amnion
49	chr15:54270400-54271200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr15:54270400-54271200	Active TSS	Right Atrium	heart

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