Variant report

Variant	rs17301982
Chromosome Location	chr15:59064965-59064966
allele	G/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	REST	chr15:59062530-59064976	H1-neurons	neurons:	n/a	chr15:59063494-59063504 chr15:59063560-59063578 chr15:59064487-59064500
2	MXI1	chr15:59062083-59065755	SK-N-SH	brain:	n/a	chr15:59063345-59063354 chr15:59063345-59063354 chr15:59063347-59063356
3	JUN	chr15:59062762-59065164	K562	blood:	n/a	chr15:59063580-59063589
4	CHD1	chr15:59064942-59065082	GM12878	blood:	n/a	n/a
5	MYC	chr15:59062548-59065214	A549	lung:	n/a	chr15:59063346-59063355 chr15:59063346-59063356 chr15:59063345-59063356 chr15:59063346-59063355 chr15:59063345-59063355 chr15:59063346-59063355 chr15:59063345-59063356 chr15:59063348-59063357

No.	Distal block	Cell Line	Cell type
1	chr15:59064130..59065710-chr15:59066898..59069288,2	MCF-7	breast:
2	chr15:59063628..59066119-chr15:59070101..59071953,2	MCF-7	breast:
3	chr15:59040077..59045685-chr15:59061303..59067063,14	K562	blood:
4	chr15:59064062..59066974-chr15:59068078..59069600,2	MCF-7	breast:
5	chr15:59038832..59043387-chr15:59060936..59065101,7	K562	blood:

Variant related genes	Relation type
ENSG00000245975	TF binding region
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17236146	0.88[CHB][hapmap];0.97[CHD][hapmap];0.84[JPT][hapmap]
rs17236243	0.80[CEU][hapmap]
rs681711	0.80[CEU][hapmap]
rs9646204	0.80[CEU][hapmap]

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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59062200-59065000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:59062200-59065000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr15:59062200-59065000	Active TSS	K562	blood
4	chr15:59062200-59065400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:59062200-59066000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr15:59062200-59066000	Active TSS	NHLF	lung
7	chr15:59062200-59066200	Active TSS	HSMMtube	muscle
8	chr15:59062200-59067800	Active TSS	GM12878-XiMat	blood
9	chr15:59062400-59065200	Active TSS	Brain Hippocampus Middle	brain
10	chr15:59062400-59065400	Active TSS	Brain Germinal Matrix	brain
11	chr15:59062400-59065800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr15:59062400-59065800	Active TSS	Psoas Muscle	Psoas
13	chr15:59062400-59066000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:59062400-59066200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:59062400-59066400	Active TSS	Right Ventricle	heart
16	chr15:59062400-59066600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr15:59062400-59067400	Active TSS	Right Atrium	heart
18	chr15:59062400-59067800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:59062600-59065000	Active TSS	Brain Anterior Caudate	brain
20	chr15:59062600-59065000	Active TSS	Stomach Mucosa	stomach
21	chr15:59062600-59065400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:59062600-59065600	Active TSS	Colonic Mucosa	Colon
23	chr15:59062600-59065800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr15:59062600-59065800	Active TSS	Aorta	Aorta
25	chr15:59062600-59065800	Active TSS	Left Ventricle	heart
26	chr15:59062600-59066000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:59062600-59066400	Active TSS	Ovary	ovary
28	chr15:59062800-59065200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:59062800-59065600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:59062800-59065600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr15:59062800-59065600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr15:59062800-59065800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:59062800-59066800	Active TSS	NHDF-Ad	bronchial
34	chr15:59062800-59067000	Active TSS	Stomach Smooth Muscle	stomach
35	chr15:59063000-59065000	Active TSS	Fetal Muscle Leg	muscle
36	chr15:59063000-59065400	Active TSS	Rectal Smooth Muscle	rectum
37	chr15:59063000-59065600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr15:59063000-59065600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr15:59063000-59065600	Active TSS	HSMM	muscle
40	chr15:59063000-59066000	Active TSS	Fetal Stomach	stomach
41	chr15:59063000-59066000	Active TSS	Thymus	Thymus
42	chr15:59063000-59066200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:59063000-59067400	Active TSS	NHEK	skin
44	chr15:59063200-59065000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:59063200-59065000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:59063200-59065000	Active TSS	Muscle Satellite Cultured Cells	--
47	chr15:59063200-59065600	Active TSS	NH-A	brain
48	chr15:59063200-59065800	Active TSS	Placenta	Placenta
49	chr15:59063200-59065800	Active TSS	Placenta Amnion	Placenta Amnion
50	chr15:59063800-59066200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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