Variant report

Variant	rs56293302
Chromosome Location	chr15:77286946-77286947
allele	C/T
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	ELF1	chr15:77286941-77288022	GM12878	blood:	n/a	chr15:77286974-77286986

Variant related genes	Relation type
PSTPIP1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11637631	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11639459	0.88[EUR][1000 genomes]
rs17465482	0.86[AMR][1000 genomes]
rs2404232	0.86[AMR][1000 genomes]
rs5021805	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55747356	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56307118	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62027291	0.86[AMR][1000 genomes]
rs62027297	0.87[ASN][1000 genomes]
rs62027298	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62027306	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62027308	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833058	chr15:77235895-77393640	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
7	nsv517068	chr15:77254544-77381222	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1808532	chr15:77257714-77332539	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1043017	chr15:77266776-77309938	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1035874	chr15:77266776-77328742	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1822592	chr15:77283956-77332539	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3419745	chr15:77285947-77288745	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv570111	chr15:77286693-77332606	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77274000-77287200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:77281600-77287800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:77281600-77289000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:77281800-77287400	Weak transcription	Brain Anterior Caudate	brain
5	chr15:77281800-77287800	Weak transcription	Brain Angular Gyrus	brain
6	chr15:77281800-77288000	Weak transcription	Liver	Liver
7	chr15:77281800-77288600	Weak transcription	Left Ventricle	heart
8	chr15:77281800-77289000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr15:77282000-77287200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:77282000-77287200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:77282000-77287400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr15:77282000-77287400	Weak transcription	Right Ventricle	heart
13	chr15:77282000-77287600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr15:77283000-77287200	Enhancers	Pancreas	Pancrea
15	chr15:77283000-77291000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr15:77283400-77287000	Weak transcription	GM12878-XiMat	blood
17	chr15:77283600-77287600	Weak transcription	Right Atrium	heart
18	chr15:77284000-77287600	Enhancers	Placenta	Placenta
19	chr15:77284200-77287200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:77284200-77287200	Weak transcription	HSMMtube	muscle
21	chr15:77284400-77287400	Enhancers	Adipose Nuclei	Adipose
22	chr15:77284600-77287400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr15:77284600-77287400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr15:77284800-77287200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:77285000-77287400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr15:77285200-77287200	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:77285200-77287400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:77285400-77287200	Weak transcription	Brain Substantia Nigra	brain
29	chr15:77285600-77287000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr15:77285600-77287000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr15:77285600-77287000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:77285800-77287000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr15:77285800-77287400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:77285800-77287400	Enhancers	Esophagus	oesophagus
35	chr15:77286000-77287000	Enhancers	Primary T cells from cord blood	blood
36	chr15:77286000-77287000	Weak transcription	Fetal Muscle Leg	muscle
37	chr15:77286000-77287200	Enhancers	Primary B cells from peripheral blood	blood
38	chr15:77286000-77287200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:77286000-77287400	Weak transcription	Fetal Brain Female	brain
40	chr15:77286000-77287400	Enhancers	Spleen	Spleen
41	chr15:77286000-77287400	Enhancers	NHEK	skin
42	chr15:77286200-77287400	Enhancers	Primary hematopoietic stem cells	blood
43	chr15:77286200-77288200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:77286400-77287000	Enhancers	Fetal Muscle Trunk	muscle
45	chr15:77286400-77287200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:77286400-77287200	Enhancers	Colonic Mucosa	Colon
47	chr15:77286400-77287400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr15:77286400-77287400	Enhancers	Fetal Thymus	thymus
49	chr15:77286400-77287400	Enhancers	HMEC	breast
50	chr15:77286600-77287000	Weak transcription	Duodenum Mucosa	Duodenum

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